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1. Changes in the Nervous System and Musculature of Old Rats

Author:
van Steenis, G.; Kroes, R.
ISSN:
1544-2217
Subject:
muscular atrophy,   etc   ; animal pathology; brain stem; nerve tissue; neurons; peripheral nervous system; rats;     Show all 7 Subjects
Abstract:
... Changes in the nervous system and musculature of normal 34-month-old rats are described. Wallerian degeneration as well as segmental demyelination were observed in the peripheral nervous system, with changes more severe in the sciatic than in the brachial nerves. Signs of nerve-fibre degeneration were also seen in the cord and lower brain stem. The degenerative changes were usually mild, but in a ...
DOI:
10.1177/030098587100800404

2. Generalized Amyloidosis in Rhesus Monkeys

Author:
Blanchard, J. L.; Baskin, G. B.; Watson, E. A.
ISSN:
1544-2217
Subject:
muscular atrophy,   etc   ; Macaca mulatta; Shigella; adrenal glands; amyloid; amyloidosis; animal pathology; cachexia; colitis; diarrhea; feces; histology; large intestine; liver; lungs; lymph nodes; mites; muscles; necropsy; osteoarthritis; small intestine; spleen; splenomegaly; stomach;     Show all 24 Subjects
Abstract:
... Necropsy materials from 57 cases of generalized amyloidosis in rhesus monkeys were reviewed. Clinically, animals with the disease were characterized by cachexia with muscle wasting, recurrent diarrhea, and arthritis. Gross lesions included hepatomegaly, splenomegaly, chronic/active colitis, fibrous strictures of the cecocolic junction, osteoarthritis, and generalized muscle atrophy. Histologic exa ...
DOI:
10.1177/030098588602300412

3. Idiopathic Polyneuropathy in Alaskan Malamutes

Author:
Braund, Kyle G.; Shores, Andy; Lowrie, Chuck T.; Steinberg, H. Steven; Moore, Michael P.; Bagley, Rod S.; Steiss, Janet E.
Source:
Journal of veterinary internal medicine 1997 v.11 no.4 pp. 243-249
ISSN:
0891-6640
Subject:
muscular atrophy,   etc   ; electromyography; electrophysiology; exercise; gait; muscles; necrosis; nerve fibers; pelvis; peripheral nerves; signs and symptoms (animals and humans); skeletal muscle; stifle;     Show all 13 Subjects
Abstract:
... Clinical and morphologic features of a progressive polyneuropathy in young mature Alaskan Malamutes are described. Clinical signs included progressive paraparesis, synchronous pelvic limb gait, exercise intolerance, hyperesthesia, hypore‐flexia, muscle atrophy, and tetraplegia. Electromyographic testing revealed diffuse fibrillation potentials and positive sharp waves in limb muscles, especially i ...
DOI:
10.1111/j.1939-1676.1997.tb00098.x

4. Hereditary canine spinal muscular atrophy is phenotypically similar but molecularly distinct from human spinal muscular atrophy

Author:
Blazej, R.G.; Mellersh, C.S.; Cork, L.C.; Ostrander, E.A.
Source:
Journal of heredity 1998 v.89 no.6 pp. 531-537
ISSN:
0022-1503
Subject:
muscular atrophy,   etc   ; DNA; cell lines; chromosomes; dogs; genes; germ cells; humans; hybrids; linkage groups; microsatellite repeats; mixed breeds; motor neurons; mutation; rodents;     Show all 15 Subjects
Abstract:
... Hereditary canine spinal muscular atrophy (HCSMA) is an autosomal dominant motor neuron disease that is similar in pathology and clinical presentation to various forms of human motor neuron disease. We have tested the hypothesis that the canine survival motor neuron (SMN) gene is responsible for HCSMA by genetic and molecular analysis of a colony of mixed breed dogs, all descended from a single af ...
DOI:
10.1093/jhered/89.6.531
PubMed:
9864863

5. Cell death in polyglutamine diseases

Author:
Evert, Bernd O.; Wüllner, Ullrich; Klockgether, Thomas
Source:
Cell and tissue research 2000 v.301 no.1 pp. 189-204
ISSN:
0302-766X
Subject:
muscular atrophy,   etc   ; proteasome endopeptidase complex; caspases; molecular chaperones; genes; neuropathology; neurodegenerative diseases; apoptosis; disease course;     Show all 9 Subjects
Abstract:
... An increasing number of inherited neurodegenerative diseases are known to be caused by trinucleotide repeat expansions in the respective genes. At least nine disorders result from a CAG trinucleotide repeat expansion which is translated into a polyglutamine stretch in the respective proteins: Huntington's disease (HD), dentatorubral pallidolysian atrophy (DRPLA), spinal bulbar muscular atrophy (SB ...
DOI:
10.1007/s004410000228
PubMed:
10928291

6. Mice, the Motor System, and Human Motor Neuron Pathology

Author:
Nicholson, Sharon J.; Witherden, Abi S.; Hafezparast, Majid; Martin, Joanne E.; Fisher, Elizabeth M.C.
Source:
Mammalian genome 2000 v.11 no.12 pp. 1041-1052
ISSN:
0938-8990
Subject:
muscular atrophy,   etc   ; Alzheimer disease; Americans; Parkinson disease; adults; amyotrophic lateral sclerosis; animal models; brain; children; death; humans; mice; motor neurons; muscles; sclerosis; England; Wales;     Show all 17 Subjects
Abstract:
... Motor neurons are among some of the most unusual cells in the body becaue of their immense size and their role as the critical link between the motor centers of the brain and the muscles. In addition to their intrinsic biological interest, it is vital that we gain a better understanding of these cells and their pathology, since motor neuron degenerative diseases are lethal disorders that affect yo ...
DOI:
10.1007/s003350010205

7. Laminin α2 deficiency-associated muscular dystrophy in a Maine coon cat

Author:
Poncelet, L.; Resibois, A.; Engvall, E.; Shelton, G.D.
Source:
journal of small animal practice 2003 v.44 no.12 pp. 550-552
ISSN:
0022-4510
Subject:
muscular atrophy,   etc   ; biopsy; cats; contracture; disease transmission; fibrosis; immunohistochemistry; laminin; muscular dystrophy; necropsy; nerve fibers; nerve tissue; pedigree; phenotype; reflexes; United States;     Show all 16 Subjects
Abstract:
... A European case of lamininα2 deficiency-associated muscular dystrophy in a 12-month-old, female Maine coon pedigree cat is reported. The history and eventual clinical presentation of this cat differed from those of two cats reported in the USA. In this case, the myopathy was characterised by progressively worsening weakness, muscle atrophy and joint contracture. Tendon reflexes were diminished, an ...
DOI:
10.1111/j.1748-5827.2003.tb00120.x

8. Mapping of the bovine spinal muscular atrophy locus to Chromosome 24

Author:
Medugorac, Ivica; Kemter, Juliane; Russ, Ingolf; Pietrowski, Detlef; Nüske, Stefan; Reichenbach, Horst-Dieter; Schmahl, Wolfgang; Förster, Martin
Source:
Mammalian genome 2003 v.14 no.6 pp. 383-391
ISSN:
0938-8990
Subject:
muscular atrophy,   etc   ; Braunvieh; Brown Swiss; animal models; backcrossing; calves; genetic markers; homozygosity; humans; loci; marker-assisted selection; muscles; pedigree; peripheral nervous system diseases; phenotype; recessive genes; telomeres;     Show all 17 Subjects
Abstract:
... A hereditary form of spinal muscular atrophy (SMA) caused by an autosomal recessive gene has been reported for American Brown-Swiss cattle and in advanced backcrosses between American Brown-Swiss and many European brown cattle breeds. Bovine SMA (bovSMA) bears remarkable resemblance to the human SMA (SMA1). Affected homozygous calves also show progressive symmetric weakness and neurogenic atrophy ...
DOI:
10.1007/s00335-002-3024-3

9. Magneticf resonance imaging in the diagnosis of lymphoma involving the brachial plexus in a cat

Author:
Mellanby, R.J.; Jeffery, N.D.; Baines, E.A.; Woodger, N.; Herrtage, M.E.
Source:
Veterinary radiology & ultrasound 2003 v.44 no.5 pp. 522-525
ISSN:
1058-8183
Subject:
muscular atrophy,   etc   ; amputation; cats; forelimbs; hairs; histopathology; hops; image analysis; lameness; lymphoma; magnetic resonance imaging; muscles; plexus; proprioception; reflexes;     Show all 15 Subjects
Abstract:
... An 11-year-old, neutered, female Domestic Long Hair cat had a 3-week history of left forelimb lameness. Conscious proprioception and postural reflexes were absent on the left thoracic limb. The cat had slightly reduced placing and hopping responses on the left pelvic limb, absent cutaneous trunci muscle reflex on the left side, and left triceps muscle atrophy. Magnetic resonance imaging revealed a ...
DOI:
10.1111/j.1740-8261.2003.tb00500.x

10. Foot Small Muscle Atrophy Is Present Before the Detection of Clinical Neuropathy

Author:
Greenman, Robert L.; Khaodhiar, Lalita; Lima, Christina; Dinh, Thanh; Giurini, John M.; Veves, Aristidis
Source:
Diabetes care 2005 v.28 no.6 pp. 1425-1430
ISSN:
0149-5992
Subject:
muscular atrophy,   etc   ; magnetic resonance imaging; muscles; vibration; head; diabetic neuropathy; muscle tissues; patients;     Show all 8 Subjects
Abstract:
... OBJECTIVE:--To characterize structural changes and the metabolic profile of foot muscles and correlate them with diabetic neuropathy measurements using phosphorus-31 (³¹P) rapid acquisition with relaxation enhancement (RARE) magnetic resonance imaging (MRI). RESEARCH DESIGN AND METHODS--We studied 12 control subjects, 9 nonneuropathic diabetic patients, and 12 neuropathic diabetic patients using ³ ...
DOI:
10.2337/diacare.28.6.1425
PubMed:
15920063
PubMed Central:
PMC1224714

11. The C-terminal domain of coilin interacts with Sm proteins and U snRNPs

Author:
Xu, Hongzhi; Pillai, Ramesh S.; Azzouz, Teldja N.; Shpargel, Karl B.; Kambach, Christian; Hebert, Michael D.; Schümperli, Daniel; Matera, A. Gregory
Source:
Chromosoma 2005 v.114 no.3 pp. 155-166
ISSN:
0009-5915
Subject:
muscular atrophy,   etc   ; glutathione transferase; mice; motor neurons; ribonucleoproteins;     Show all 5 Subjects
Abstract:
... Coilin is the signature protein of the Cajal body (CB), a nuclear suborganelle involved in the biogenesis of small nuclear ribonucleoproteins (snRNPs). Newly imported Sm-class snRNPs are thought to traffic through CBs before proceeding to their final nuclear destinations. Loss of coilin function in mice leads to significant viability and fertility problems. Coilin interacts directly with the spina ...
DOI:
10.1007/s00412-005-0003-y
PubMed:
16003501
PubMed Central:
PMC1389727

12. Carpal hyperflexion in a growing dog following neural injury to the distal brachium

Author:
Holland, C. T.
Source:
journal of small animal practice 2005 v.46 no.1 pp. 22-26
ISSN:
0022-4510
Subject:
muscular atrophy,   etc   ; animal injuries; carpus; dogs; fibrosis; muscles; nerve tissue;     Show all 7 Subjects
Abstract:
... A three‐month‐old dobermann was presented with hyperflexion of the right carpus. The abnormality had evolved over a three‐week period, following circumferential soft tissue trauma to the distal brachium. The carpal joint angle measured at the limit of passive extension was 105° compared with 175° for the left carpus, and prevented placement of metacarpal and digital pads on the ground. Neurologica ...
DOI:
10.1111/j.1748-5827.2005.tb00270.x
PubMed:
15682736

13. Atrophy of Foot Muscles in Diabetic Patients Can Be Detected With Ultrasonography

Author:
Severinsen, Kaare; Obel, Annette; Jakobsen, Johannes; Andersen, Henning
Source:
Diabetes care 2007 v.30 no.12 pp. 3053-3057
ISSN:
0149-5992
Subject:
muscular atrophy,   etc   ; magnetic resonance imaging; muscles; diabetic neuropathy; patients; ultrasonography;     Show all 6 Subjects
Abstract:
... OBJECTIVE:--To establish a bedside test with ultrasonography for evaluation of foot muscle atrophy in diabetic patients. RESEARCH DESIGN AND METHODS--Thickness and cross-sectional area (CSA) of the extensor digitorum brevis muscle (EDB) and of the muscles of the first interstitium (MILs) were determined in 26 diabetic patients and in 26 matched control subjects using ultrasonography. To estimate t ...
DOI:
10.2337/dc07-0108
PubMed:
17717286

14. Modulating role of RNA structure in alternative splicing of a critical exon in the spinal muscular atrophy genes

Author:
Singh, Natalia N.; Singh, Ravindra N.; Androphy, Elliot J.
Source:
Nucleic acids research 2007 v.35 no.2 pp. 371-389
ISSN:
0305-1048
Subject:
muscular atrophy,   etc   ; alternative splicing; motor neurons; humans; homozygosity; RNA; exons; point mutation;     Show all 8 Subjects
Abstract:
... Humans have two nearly identical copies of the survival motor neuron (SMN ) gene, SMN1 and SMN2. Homozygous loss of SMN1 causes spinal muscular atrophy (SMA). SMN2 is unable to prevent the disease due to skipping of exon 7. Using a systematic approach of in vivo selection, we have previously demonstrated that a weak 5' splice site (ss) serves as the major cause of skipping of SMN2 exon 7. Here we ...
DOI:
10.1093/nar/gkl1050
PubMed:
17170000
PubMed Central:
PMC1802598

15. Cdc42 GTPase-activating protein deficiency promotes genomic instability and premature aging-like phenotypes

Author:
Wang, Lei; Yang, Linda; Debidda, Marcella; Witte, David; Zheng, Yi
Source:
Proceedings of the National Academy of Sciences of the United States of America 2007 v.104 no.4 pp. 1248-1253
ISSN:
0027-8424
Subject:
muscular atrophy,   etc   ; DNA repair; GTPase-activating proteins; adipose tissue; adults; beta-galactosidase; cell senescence; fibroblasts; gene targeting; guanosinetriphosphatase; longevity; mice; microfilaments; osteoporosis; phenotype; protein deficiencies;     Show all 16 Subjects
Abstract:
... Cdc42 is a member of the Rho GTPase family known to regulate cell actin cytoskeleton organization, polarity, and growth, but its function in mammalian organismal physiology remains unclear. We found that natural aging of WT mice is marked with increased Cdc42 activity in various tissues. Among the negative regulators of Cdc42, gene targeting of Cdc42 GTPase-activating protein (Cdc42GAP) results in ...
DOI:
10.1073/pnas.0609149104
PubMed:
17227869
PubMed Central:
PMC1783128

16. Axonal-SMN (a-SMN), a protein isoform of the survival motor neuron gene, is specifically involved in axonogenesis

Author:
Setola, Veronica; Terao, Mineko; Locatelli, Denise; Bassanini, Stefania; Garattini, Enrico; Battaglia, Giorgio
Source:
Proceedings of the National Academy of Sciences of the United States of America 2007 v.104 no.6 pp. 1959-1964
ISSN:
0027-8424
Subject:
muscular atrophy,   etc   ; alternative splicing; motor neurons; humans; telomeres; early development; axons; spinal cord; pathogenesis; childhood; exons; tissues;     Show all 12 Subjects
Abstract:
... Spinal muscular atrophy (SMA) is an autosomal recessive disease of childhood due to loss of the telomeric survival motor neuron gene, SMN1. The general functions of the main SMN1 protein product, full-length SMN (FL-SMN), do not explain the selective motoneuronal loss of SMA. We identified axonal-SMN (a-SMN), an alternatively spliced SMN form, preferentially encoded by the SMN1 gene in humans. The ...
DOI:
10.1073/pnas.0610660104
PubMed:
17261814
PubMed Central:
PMC1794299

17. An intronic element contributes to splicing repression in spinal muscular atrophy

Author:
Kashima, Tsuyoshi; Rao, Nishta; Manley, James L.
Source:
Proceedings of the National Academy of Sciences of the United States of America 2007 v.104 no.9 pp. 3426-3431
ISSN:
0027-8424
Subject:
muscular atrophy,   etc   ; motor neurons; ribonucleoproteins; mutation; binding sites; neurodegenerative diseases; exons; introns;     Show all 8 Subjects
Abstract:
... The neurodegenerative disease spinal muscular atrophy is caused by mutation of the survival motor neuron 1 (SMN1) gene. SMN2 is a nearly identical copy of SMN1 that is unable to prevent disease, because most SMN2 transcripts lack exon 7 and thus produce a nonfunctional protein. A key cause of inefficient SMN2 exon 7 splicing is a single nucleotide difference between SMN1 and SMN2 within exon 7. We ...
DOI:
10.1073/pnas.0700343104
PubMed:
17307868
PubMed Central:
PMC1805620

18. Inducible overexpression of wild-type prion protein in the muscles leads to a primary myopathy in transgenic mice

Author:
Huang, Shenghai; Liang, Jingjing; Zheng, Mengjie; Li, Xinyi; Wang, Meiling; Wang, Ping; Vanegas, Difernando; Wu, Di; Chakraborty, Bikram; Hays, Arthur P.; Chen, Ken; Chen, Shu G.; Booth, Stephanie; Cohen, Mark; Gambetti, Pierluigi; Kong, Qingzhong
Source:
Proceedings of the National Academy of Sciences of the United States of America 2007 v.104 no.16 pp. 6800-6805
ISSN:
0027-8424
Subject:
muscular atrophy,   etc   ; cytotoxicity; dermatomyositis; digestion; doxycycline; fibrosis; gene overexpression; mice; muscles; patients; peripheral nervous system diseases; polymyositis; prions; proteinases; skeletal muscle; transgenic animals; vacuoles;     Show all 17 Subjects
Abstract:
... The prion protein (PrP) level in muscle has been reported to be elevated in patients with inclusion-body myositis, polymyositis, dermatomyositis, and neurogenic muscle atrophy, but it is not clear whether the elevated PrP accumulation in the muscles is sufficient to cause muscle diseases. We have generated transgenic mice with muscle-specific expression of PrP under extremely tight regulation by d ...
DOI:
10.1073/pnas.0608885104
PubMed:
17420473
PubMed Central:
PMC1871865

19. The zebrafish candyfloss mutant implicates extracellular matrix adhesion failure in laminin α2-deficient congenital muscular dystrophy

Author:
Hall, Thomas E.; Bryson-Richardson, Robert J.; Berger, Silke; Jacoby, Arie S.; Cole, Nicholas J.; Hollway, Georgina E.; Berger, Joachim; Currie, Peter D.
Source:
Proceedings of the National Academy of Sciences of the United States of America 2007 v.104 no.17 pp. 7092-7097
ISSN:
0027-8424
Subject:
muscular atrophy,   etc   ; Danio rerio; Schwann cells; adhesion; apoptosis; basement membrane; extracellular matrix; genes; humans; innervation; laminin; membrane permeability; molecular models; motor neurons; muscle contraction; muscle tissues; muscles; muscular dystrophy; mutants; mutation; myoblasts; necrosis; peripheral nerves; phenotype;     Show all 24 Subjects
Abstract:
... Mutations in the human laminin α2 (LAMA2) gene result in the most common form of congenital muscular dystrophy (MDC1A). There are currently three models for the molecular basis of cellular pathology in MDC1A: (i) lack of LAMA2 leads to sarcolemmal weakness and failure, followed by cellular necrosis, as is the case in Duchenne muscular dystrophy (DMD); (ii) loss of LAMA2-mediated signaling during t ...
DOI:
10.1073/pnas.0700942104
PubMed:
17438294
PubMed Central:
PMC1855385

20. Common molecular signature in SOD1 for both sporadic and familial amyotrophic lateral sclerosis

Author:
Gruzman, Arie; Wood, William L.; Alpert, Evgenia; Prasad, M. Dharma; Miller, Robert G.; Rothstein, Jeffery D.; Bowser, Robert; Hamilton, Ronald; Wood, Troy D.; Cleveland, Don W.; Lingappa, Vishwanath R.; Liu, Jian
Source:
Proceedings of the National Academy of Sciences of the United States of America 2007 v.104 no.30 pp. 12524-12529
ISSN:
0027-8424
Subject:
muscular atrophy,   etc   ; Alzheimer disease; amyotrophic lateral sclerosis; biomarkers; biotinylation; copper; crosslinking; etiology; genes; motor neurons; mutation; pathogenesis; spinal cord; spinal diseases; superoxide dismutase; tissues; zinc;     Show all 17 Subjects
Abstract:
... Amyotrophic lateral sclerosis (ALS) is a devastating motor neuron degenerative disease whose etiology and pathogenesis remain poorly understood. Most cases of ALS ([almost equal to]90%) are sporadic (SALS), occurring in the absence of genetic associations. Approximately 20% of familial ALS (FALS) cases are due to known mutations in the copper, zinc superoxide dismutase (SOD1) gene. Molecular evide ...
DOI:
10.1073/pnas.0705044104
PubMed:
17636119
PubMed Central:
PMC1941502

21. Capillary electrophoresis for the detection of PMP22 gene duplication: Study in Mexican patients

Author:
Hernández-Zamora, Edgar; de la Luz Arenas-Sordo, María; Maldonado-Rodríguez, Rogelio
Source:
Electrophoresis 2008 v.29 no.7 pp. 1582-1584
ISSN:
0173-0835
Subject:
muscular atrophy,   etc   ; phenotype; humans; nerve fibers; chromatids; DNA; disease severity; gene duplication; genetic disorders; capillary electrophoresis; myelin sheath; patients; meiosis; exons; nerve tissue;     Show all 15 Subjects
Abstract:
... Charcot-Marie-Tooth (CMT) disease is the most common inherited disorder of the human peripheral nerve, with an estimated overall prevalence of 17-40/10 000 [1]. The typical phenotype presents peroneal muscular atrophy and pes cavus [2]. CMT is usually divided into two large types, about two-thirds of the patients have CMT type 1 (CMT1), that affects the layer of myelin (demyelination). In type 2 ( ...
DOI:
10.1002/elps.200700614

22. Plastin 3 Is a Protective Modifier of Autosomal Recessive Spinal Muscular Atrophy

Author:
Oprea, Gabriela E.; Kröber, Sandra; McWhorter, Michelle L.; Rossoll, Wilfried; Müller, Stefan; Krawczak, Michael; Bassell, Gary J.; Beattie, Christine E.; Wirth, Brunhilde
Source:
Science 2008 v.320 no.5875 pp. 524-527
ISSN:
0036-8075
Subject:
muscular atrophy,   etc   ; Danio rerio; actin; childhood; females; homozygosity; mice; modifiers (genes); motor neurons; mutation; siblings;     Show all 11 Subjects
Abstract:
... Homozygous deletion of the survival motor neuron 1 gene (SMN1) causes spinal muscular atrophy (SMA), the most frequent genetic cause of early childhood lethality. In rare instances, however, individuals are asymptomatic despite carrying the same SMN1 mutations as their affected siblings, thereby suggesting the influence of modifier genes. We discovered that unaffected SMN1-deleted females exhibit ...
DOI:
10.1126/science.1155085
PubMed:
18440926
PubMed Central:
PMC4908855

23. Quantification of SMN1 and SMN2 genes by capillary electrophoresis for diagnosis of spinal muscular atrophy

Author:
Wang, Chun-Chi; Chang, Jan-Gowth; Ferrance, Jerome; Chen, Hsin-Yi; You, Chung-Yee; Chang, Yung-Fu; Jong, Yuh-Jyh; Wu, Shou-Mei; Yeh, Chao-Hung
Source:
Electrophoresis 2008 v.29 no.13 pp. 2904-2911
ISSN:
0173-0835
Subject:
muscular atrophy,   etc   ; DNA; capillary electrophoresis; composite polymers; gel electrophoresis; genes; genotyping; high performance liquid chromatography; parents; patients; polymerase chain reaction; sequence analysis;     Show all 12 Subjects
Abstract:
... We present the first CE method for the separation and quantification of SMN1 and SMN2 genes. Spinal muscular atrophy (SMA) is an inherited neuromuscular disorder deleted or mutated in SMN1 gene and retained at least one copy of SMN2 gene. However, these two genes are highly homologous, differentiation and quantification of SMN1 and SMN2 are therefore required in diagnosis to identify SMA patients ...
DOI:
10.1002/elps.200700799

24. Manipulating the Metazoan Mitochondrial Genome with Targeted Restriction Enzymes

Author:
Xu, Hong; DeLuca, Steven Z.; O'Farrell, Patrick H.
Source:
Science 2008 v.321 no.5888 pp. 575-577
ISSN:
0036-8075
Subject:
muscular atrophy,   etc   ; Drosophila; cytochrome-c oxidase; genes; genetic techniques and protocols; genomics; germ cells; growth retardation; humans; longevity; male fertility; males; mitochondria; mitochondrial DNA; mitochondrial genome; models; mutants; mutation; neurodegenerative diseases; progeny; restriction endonucleases;     Show all 21 Subjects
Abstract:
... High copy number and random segregation confound genetic analysis of the mitochondrial genome. We developed an efficient selection for heritable mitochondrial genome (mtDNA) mutations in Drosophila, thereby enhancing a metazoan model for study of mitochondrial genetics and mutations causing human mitochondrial disease. Targeting a restriction enzyme to mitochondria in the germline compromised fert ...
DOI:
10.1126/science.1160226
PubMed:
18653897
PubMed Central:
PMC2754248

25. Pathologic Findings in Equine Muscle (Excluding Polysaccharide Storage): A Necropsy Study

Author:
Valentine, Beth A.
Source:
Journal of veterinary diagnostic investigation 2008 v.20 no.5 pp. 572-579
ISSN:
1040-6387
Subject:
muscular atrophy,   etc   ; Protozoa; asses; bacterial infections; bone fractures; eosin; formalin; glycogen; histopathology; horses; injection site; mules; muscles; necropsy; neoplasms; nutrient deficiencies; rhabdomyolysis; selenium; skeletal muscle; Oregon;     Show all 20 Subjects
Abstract:
... Gross and histopathologic evaluation of skeletal muscle was performed in 229 equids (217 horses, 8 ponies, 3 donkeys, and 1 mule) 1 year of age or older undergoing postmortem examination at Oregon State University in a 2.5-year period. Animals were evaluated for grossly evident muscle lesions, and muscle samples were fixed in formalin, processed routinely, and stained with hematoxylin and eosin (H ...
DOI:
10.1177/104063870802000506

26. Molecular genetic basis of proximal spinal muscular atrophy and experience in its pharmaceutical treatment

Author:
Baranov, V. S.; Kiselev, A. V.; Vakharlovsky, V. G.; Zheleznjakova, G. Ju.; Komantzev, V. N.; Malisheva, O. V.; Glotov, A. S.; Ivashchenko, T. E.; Baranov, A. N.
Source:
Russian journal of genetics 2008 v.44 no.10 pp. 1148-1159
ISSN:
1022-7954
Subject:
muscular atrophy,   etc   ; biogenesis; mutation; patients; pseudogenes; ribonucleoproteins; therapeutics; valproic acid;     Show all 8 Subjects
Abstract:
... The review considers the original and published data on the molecular genetic basis of proximal spinal muscular atrophy (SMA), the most common monogenic neuromuscular disease. The structures of the SMN1 gene and SMN2 pseudogene, mutations distorting the SMN1 function, the structure and functions of the Smn neurotrophic protein, its role in biogenesis of small nuclear ribonucleoproteins (snRNPs), a ...
DOI:
10.1134/S1022795408100049

27. Porcine muscle sensory attributes associate with major changes in gene networks involving CAPZB, ANKRD1, and CTBP2

Author:
Ponsuksili, S.; Murani, E.; Phatsara, C.; Schwerin, M.; Schellander, K.; Wimmers, K.
Source:
Functional & integrative genomics 2009 v.9 no.4 pp. 455-471
ISSN:
1438-793X
Subject:
muscular atrophy,   etc   ; actin; calcium; epidermal growth factor; gene expression regulation; genes; integrins; longissimus muscle; meat; meat carcasses; meat quality; microarray technology; phosphorylation; platelet-derived growth factor; principal component analysis; sensory properties; signal transduction; swine; ubiquitination; vascular endothelial growth factors;     Show all 20 Subjects
Abstract:
... Principal component analysis of traits related to carcass and meat properties were combined with microarray expression data for the identification of functional networks of genes and biological processes taking place during the conversion of muscle to meat. Principal components (PCs) with high loadings of meat quality traits were derived from phenotypic data of 572 animals of a porcine crossbreed ...
DOI:
10.1007/s10142-009-0131-1
PubMed:
19597856

28. Role of Intrinsic Muscle Atrophy in the Etiology of Claw Toe Deformity in Diabetic Neuropathy May Not Be as Straightforward as Widely Believed

Author:
Bus, Sicco A.; Maas, Mario; Michels, Robert P.J.; Levi, Marcel
Source:
Diabetes care 2009 v.32 no.6 pp. 1063-1067
ISSN:
0149-5992
Subject:
muscular atrophy,   etc   ; correlation; etiology; magnetic resonance imaging; muscles; diabetic neuropathy; patients; feet;     Show all 8 Subjects
Abstract:
... OBJECTIVE: Clawing of the toes in the diabetic neuropathic foot is believed to be caused by muscle imbalance resulting from intrinsic muscle atrophy. However, experimental data that support this mechanism are lacking. The aim of this study was to evaluate this hypothesis using magnetic resonance imaging (MRI). RESEARCH DESIGN AND METHODS: In 20 neuropathic diabetic patients, 10 with claw toe defor ...
DOI:
10.2337/dc08-2174
PubMed:
19279305
PubMed Central:
PMC2681028

29. Storage‐associated artefact in equine muscle biopsy samples

Author:
Stanley, R. L.; Maile, C.; Piercy, R. J.
Source:
Equine veterinary journal 2009 v.41 no.1 pp. 82-86
ISSN:
0425-1644
Subject:
muscular atrophy,   etc   ; biopsy; body water; collagen; containers; euthanasia; freezing; horses; ice; muscles; muscular diseases; nitrogen; pentane; skeletal muscle; staining; storage time; temperature; veterinary clinics;     Show all 18 Subjects
Abstract:
... Reasons for performing study: Muscle biopsy is increasingly used in equine veterinary practice for investigating exertional, inflammatory or immune mediated myopathies and unexplained muscle atrophy. Although formalin‐fixed samples are often used, for complete evaluation, fresh‐frozen tissue is required. Freezing muscle in veterinary practice is impractical: samples sent to specialist laboratories ...
DOI:
10.2746/042516408X330374

30. Evidence that a maternal “junk food” diet during pregnancy and lactation can reduce muscle force in offspring

Author:
Bayol, Stéphanie A.; Macharia, Raymond; Farrington, Samantha J.; Simbi, Bigboy H.; Stickland, Neil C.
Source:
European journal of nutrition 2009 v.48 no.1 pp. 62-65
ISSN:
1436-6207
Subject:
muscular atrophy,   etc   ; adiposity; adolescence; animal models; diet; exercise; food choices; lactation; malnutrition; maternal nutrition; mothers; muscle development; muscles; obesity; overeating; pregnancy; processed foods; progeny; rats; salts; sugars;     Show all 21 Subjects
Abstract:
... Background Obesity is a multi-factorial condition generally attributed to an unbalanced diet and lack of exercise. Recent evidence suggests that maternal malnutrition during pregnancy and lactation can also contribute to the development of obesity in offspring. We have developed an animal model in rats to examine the effects of maternal overeating on a westernised “junk food” diet using palatable ...
DOI:
10.1007/s00394-008-0760-5
PubMed:
19099241

31. Splice-site pairing is an intrinsically high fidelity process

Author:
Fox-Walsh, Kristi L.; Hertel, Klemens J.
Source:
Proceedings of the National Academy of Sciences of the United States of America 2009 v.106 no.6 pp. 1766-1771
ISSN:
0027-8424
Subject:
muscular atrophy,   etc   ; messenger RNA; alternative splicing; motor neurons; humans; eukaryotic cells; spliceosomes; neurodegenerative diseases; exons;     Show all 9 Subjects
Abstract:
... The extensive alternative splicing in higher eukaryotes has initiated a debate whether alternative mRNA isoforms are generated by an inaccurate spliceosome or are the consequence of highly degenerate splice sites within the human genome. Here, we established a quantitative assay to evaluate the accuracy of splice-site pairing by determining the number of incorrect exon-skipping events made from co ...
DOI:
10.1073/pnas.0813128106
PubMed:
19179398
PubMed Central:
PMC2644112

32. Aberrant E2F activation by polyglutamine expansion of androgen receptor in SBMA neurotoxicity

Author:
Suzuki, Eriko; Zhao, Yue; Ito, Saya; Sawatsubashi, Shun; Murata, Takuya; Furutani, Takashi; Shirode, Yuko; Yamagata, Kaoru; Tanabe, Masahiko; Kimura, Shuhei; Ueda, Takashi; Fujiyama, Sally; Lim, Jinseon; Matsukawa, Hiroyuki; Kouzmenko, Alexander P.; Aigaki, Toshiro; Tabata, Tetsuya; Takeyama, Ken-ichi; Kato, Shigeaki
Source:
Proceedings of the National Academy of Sciences of the United States of America 2009 v.106 no.10 pp. 3818-3822
ISSN:
0027-8424
Subject:
muscular atrophy,   etc   ; Drosophila; androgen receptors; eyes; gene overexpression; histones; humans; mutants; neurodegenerative diseases; neurotoxicity; transcriptional activation;     Show all 11 Subjects
Abstract:
... Spinal and bulbar muscular atrophy (SBMA) is a neurodegenerative disorder caused by a polyglutamine repeat (polyQ) expansion within the human androgen receptor (AR). Unlike other neurodegenerative diseases caused by abnormal polyQ expansion, the onset of SBMA depends on androgen binding to mutant human polyQ-AR proteins. This is also observed in Drosophila eyes ectopically expressing the polyQ-AR ...
DOI:
10.1073/pnas.0809819106
PubMed:
19237573
PubMed Central:
PMC2656163

33. Universal multiplex PCR and CE for quantification of SMN1/SMN2 genes in spinal muscular atrophy

Author:
Wang, Chun-Chi; Chang, Jan-Gowth; Jong, Yuh-Jyh; Wu, Shou-Mei
Source:
Electrophoresis 2009 v.30 no.7 pp. 1102-1110
ISSN:
0173-0835
Subject:
muscular atrophy,   etc   ; DNA; cellulose; electrophoresis; fluorescence; genes; genotyping; high performance liquid chromatography; neurons; parents; patients; polymerase chain reaction; screening; sequence analysis;     Show all 14 Subjects
Abstract:
... We established a universal multiplex PCR and CE to calculate the copy number of survival motor neuron (SMN1 and SMN2) genes for clinical screening of spinal muscular atrophy (SMA). In this study, one universal fluorescent primer was designed and applied for multiplex PCR of SMN1, SMN2 and two internal standards (CYBB and KRIT1). These amplicons were separated by conformation sensitive CE. Mixture ...
DOI:
10.1002/elps.200800375

34. Verminous Myelitis in a Pit Bull Puppy [Erratum: 2009 Sept. 1, v. 21, no. 5, p. 729.]

Author:
Snook, Eric R.; Baker, David G.; Bauer, Rudy W.
Source:
Journal of veterinary diagnostic investigation 2009 v.21 no.3 pp. 400-402
ISSN:
1040-6387
Subject:
muscular atrophy,   etc   ; Bull Terrier; Strongyloides stercoralis; hindlimbs; males; necropsy; nematode larvae; paresis; puppies; spinal cord; veterinarians;     Show all 11 Subjects
Abstract:
... A 10-week-old, male pit bull dog presented to the referring veterinarian with hind limb paresis and epaxial muscle atrophy. No spinal lesions were identified at gross necropsy; however, histologically there was marked granulomatous myelitis in the spinal cord between T13 and L2 with occasional, intralesional nematode larvae. Based on morphologic characteristics, the nematode larvae were identified ...
DOI:
10.1177/104063870902100320

35. Fibroblast growth factor-2 regulates the stability of nuclear bodies

Author:
Bruns, Alexander-Francisco; van Bergeijk, Jeroen; Lorbeer, Christina; Nölle, Anna; Jungnickel, Julia; Grothe, Claudia; Claus, Peter
Source:
Proceedings of the National Academy of Sciences of the United States of America 2009 v.106 no.31 pp. 12747-12752
ISSN:
0027-8424
Subject:
muscular atrophy,   etc   ; fibroblast growth factor 2; gene expression regulation; genes; mice; motor neurons; neurodegenerative diseases; patients; small interfering RNA; transgenic animals;     Show all 10 Subjects
Abstract:
... Nuclear bodies are distinct subnuclear structures. The survival of motoneuron (SMN) gene is mutated or deleted in patients with the neurodegenerative disease spinal muscular atrophy (SMA). The gene product SMN is a marker protein for one class of nuclear bodies denoted as nuclear gems. SMN has also been found in Cajal bodies, which co-localize with gems in many cell types. Interestingly, SMA patie ...
DOI:
10.1073/pnas.0900122106
PubMed:
19617559
PubMed Central:
PMC2722362

36. MSC p43 required for axonal development in motor neurons

Author:
Zhu, Xiaodong; Liu, Yang; Yin, Yanqing; Shao, Aiyun; Zhang, Bo; Kim, Sunghoon; Zhou, Jiawei
Source:
Proceedings of the National Academy of Sciences of the United States of America 2009 v.106 no.37 pp. 15944-15949
ISSN:
0027-8424
Subject:
muscular atrophy,   etc   ; cytoskeleton; mice; motor development; motor neurons; phosphorylation; synapse;     Show all 7 Subjects
Abstract:
... Neuron connectivity and correct neural function largely depend on axonal integrity. Neurofilaments (NFs) constitute the main cytoskeletal network maintaining the structural integrity of neurons and exhibit dynamic changes during axonal and dendritic growth. However, the mechanisms underlying axonal development and maintenance remain poorly understood. Here, we identify that multisynthetase complex ...
DOI:
10.1073/pnas.0901872106
PubMed:
19717447
PubMed Central:
PMC2747223

37. Triplet repeat length bias and variation in the human transcriptome

Author:
Molla, Michael; Delcher, Arthur; Sunyaev, Shamil; Cantor, Charles; Kasif, Simon
Source:
Proceedings of the National Academy of Sciences of the United States of America 2009 v.106 no.40 pp. 17095-17100
ISSN:
0027-8424
Subject:
muscular atrophy,   etc   ; Pan troglodytes; alleles; cost effectiveness; exons; humans; intergenic DNA; introns; microsatellite repeats; natural selection; risk; single nucleotide polymorphism; surveys; transcriptome;     Show all 14 Subjects
Abstract:
... Length variation in short tandem repeats (STRs) is an important family of DNA polymorphisms with numerous applications in genetics, medicine, forensics, and evolutionary analysis. Several major diseases have been associated with length variation of trinucleotide (triplet) repeats including Huntington's disease, hereditary ataxias and spinobulbar muscular atrophy. Using the reference human genome, ...
DOI:
10.1073/pnas.0907112106
PubMed:
19805156
PubMed Central:
PMC2746125

38. SH3TC2/KIAA1985 protein is required for proper myelination and the integrity of the node of Ranvier in the peripheral nervous system

Author:
Arnaud, Estelle; Zenker, Jennifer; de Preux Charles, Anne-Sophie; Stendel, Claudia; Roos, Andreas; Médard, Jean-Jacques; Tricaud, Nicolas; Weis, Joachim; Suter, Ueli; Senderek, Jan; Chrast, Roman
Source:
Proceedings of the National Academy of Sciences of the United States of America 2009 v.106 no.41 pp. 17528-17533
ISSN:
0027-8424
Subject:
muscular atrophy,   etc   ; scoliosis; plasma membrane; peripheral nerves; myelination; animals; phenotype; peripheral nervous system diseases; models; transcription (genetics); knockout mutants; biopsy; myelin sheath; patients; Schwann cells; walking; exons; cell adhesion; nerve tissue;     Show all 19 Subjects
Abstract:
... Charcot-Marie-Tooth disease type 4C (CMT4C) is an early-onset, autosomal recessive form of demyelinating neuropathy. The clinical manifestations include progressive scoliosis, delayed age of walking, muscular atrophy, distal weakness, and reduced nerve conduction velocity. The gene mutated in CMT4C disease, SH3TC2/KIAA1985, was recently identified; however, the function of the protein it encodes r ...
DOI:
10.1073/pnas.0905523106
PubMed:
19805030
PubMed Central:
PMC2765159

39. MicroRNA-206 Delays ALS Progression and Promotes Regeneration of Neuromuscular Synapses in Mice

Author:
Williams, Andrew H.; Valdez, Gregorio; Moresi, Viviana; Qi, Xiaoxia; McAnally, John; Elliott, Jeffrey L.; Bassel-Duby, Rhonda; Sanes, Joshua R.; Olson, Eric N.
Source:
Science 2009 v.326 no.5959 pp. 1549-1554
ISSN:
0036-8075
Subject:
muscular atrophy,   etc   ; amyotrophic lateral sclerosis; animal models; disease course; fibroblast growth factors; histone deacetylase; mice; microRNA; motor neurons; muscles; myotubes; nerve tissue; paralysis; pathogenesis; signal transduction; synapse;     Show all 16 Subjects
Abstract:
... Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease characterized by loss of motor neurons, denervation of target muscles, muscle atrophy, and paralysis. Understanding ALS pathogenesis may require a fuller understanding of the bidirectional signaling between motor neurons and skeletal muscle fibers at neuromuscular synapses. Here, we show that a key regulator of this signaling is mi ...
DOI:
10.1126/science.1181046
PubMed:
20007902
PubMed Central:
PMC2796560

40. Multi-exon genotyping of SMN gene in spinal muscular atrophy by universal fluorescent PCR and capillary electrophoresis

Author:
Wang, Chun-Chi; Chang, Jan-Gowth; Chen, Yen-Ling; Jong, Yuh-Jyh; Wu, Shou-Mei
Source:
Electrophoresis 2010 v.31 no.14 pp. 2396-2404
ISSN:
0173-0835
Subject:
muscular atrophy,   etc   ; neurons; telomeres; fluorescence; polymerase chain reaction; mutation; gene conversion; fluorescent labeling; capillary electrophoresis; genotyping; patients; exons;     Show all 12 Subjects
Abstract:
... In this study, we established the first method for simultaneous evaluation of nine exons in the survival motor neuron (SMN) genes for full-scale genotyping. This method was used not only to quantify the copy numbers of highly homogenous telomeric SMN (SMN1)/centromeric SMN genes in exons 7 and 8 but also to determine intragenic mutations in all nine exons for complete diagnosis of spinal muscular ...
DOI:
10.1002/elps.201000124

41. Universal fluorescent multiplex PCR and capillary electrophoresis for evaluation of gene conversion between SMN1 and SMN2 in spinal muscular atrophy

Author:
Wang, Chun-Chi; Jong, Yuh-Jyh; Chang, Jan-Gowth; Chen, Yen-Ling; Wu, Shou-Mei
Source:
Analytical and bioanalytical chemistry 2010 v.397 no.6 pp. 2375-2383
ISSN:
1618-2642
Subject:
muscular atrophy,   etc   ; fluorescence; polymerase chain reaction; gene conversion; capillary electrophoresis; genotyping; patients; gene deletion; exons;     Show all 9 Subjects
Abstract:
... We have developed a capillary electrophoresis (CE) method with universal fluorescent multiplex PCR to simultaneously detect the SMN1 and SMN2 genes in exons 7 and 8. Spinal muscular atrophy (SMA) is a very frequent inherited disease caused by the absence of the SMN1 gene in approximately 94% of patients. Those patients have deletion of the SMN1 gene or gene conversion between SMN1 and SMN2. Howeve ...
DOI:
10.1007/s00216-010-3761-1
PubMed:
20563565

42. miRNA malfunction causes spinal motor neuron disease

Author:
Haramati, Sharon; Chapnik, Elik; Sztainberg, Yehezkel; Eilam, Raya; Zwang, Raaya; Gershoni, Noga; McGlinn, Edwina; Heiser, Patrick W.; Wills, Anne-Marie; Wirguin, Itzhak; Rubin, Lee L.; Misawa, Hidemi; Tabin, Clifford J.; Brown, Robert Jr.; Chen, Alon; Hornstein, Eran
Source:
Proceedings of the National Academy of Sciences of the United States of America 2010 v.107 no.29 pp. 13111-13116
ISSN:
0027-8424
Subject:
muscular atrophy,   etc   ; adults; gene expression regulation; metabolism; mice; microRNA; models; motor neurons; neurodegenerative diseases; pathogenesis; sclerosis; spinal cord;     Show all 12 Subjects
Abstract:
... Defective RNA metabolism is an emerging mechanism involved in ALS pathogenesis and possibly in other neurodegenerative disorders. Here, we show that microRNA (miRNA) activity is essential for long-term survival of postmitotic spinal motor neurons (SMNs) in vivo. Thus, mice that do not process miRNA in SMNs exhibit hallmarks of spinal muscular atrophy (SMA), including sclerosis of the spinal cord v ...
DOI:
10.1073/pnas.1006151107
PubMed:
20616011
PubMed Central:
PMC2919953

43. Structural basis for the wobbler mouse neurodegenerative disorder caused by mutation in the Vps54 subunit of the GARP complex

Author:
Pérez-Victoria, F. Javier; Abascal-Palacios, Guillermo; Tascón, Igor; Kajava, Andrey; Magadán, Javier G.; Pioro, Erik P.; Bonifacino, Juan S.; Hierro, Aitor
Source:
Proceedings of the National Academy of Sciences of the United States of America 2010 v.107 no.29 pp. 12860-12865
ISSN:
0027-8424
Subject:
muscular atrophy,   etc   ; amyotrophic lateral sclerosis; animal models; crystal structure; glutamine; half life; hydrophobic bonding; mice; mutants; mutation; phenotype; sequence analysis;     Show all 12 Subjects
Abstract:
... The multisubunit Golgi-associated retrograde protein (GARP) complex is required for tethering and fusion of endosome-derived transport vesicles to the trans-Golgi network. Mutation of leucine-967 to glutamine in the Vps54 subunit of GARP is responsible for spinal muscular atrophy in the wobbler mouse, an animal model of amyotrophic lateral sclerosis. The crystal structure at 1.7 Å resolution of th ...
DOI:
10.1073/pnas.1004756107
PubMed:
20615984
PubMed Central:
PMC2919957

44. MTM1 mutation associated with X-linked myotubular myopathy in Labrador Retrievers

Author:
Beggs, Alan H.; Böhm, Johann; Snead, Elizabeth; Kozlowski, Marek; Maurer, Marie; Minor, Katie; Childers, Martin K.; Taylor, Susan M.; Hitte, Christophe; Mickelson, James R.; Guo, Ling T.; Mizisin, Andrew P.; Buj-Bello, Anna; Tiret, Laurent; Laporte, Jocelyn; Shelton, G. Diane
Source:
Proceedings of the National Academy of Sciences of the United States of America 2010 v.107 no.33 pp. 14697-14702
ISSN:
0027-8424
Subject:
muscular atrophy,   etc   ; muscular diseases; sequence analysis; haplotypes; humans; muscles; dogs; males; models; mutation; Labrador Retriever; biopsy; mutants; myotubes; exons;     Show all 15 Subjects
Abstract:
... Mutations in the MTM1 gene encoding myotubularin cause X-linked myotubular myopathy (XLMTM), a well-defined subtype of human centronuclear myopathy. Seven male Labrador Retrievers, age 14-26 wk, were clinically evaluated for generalized weakness and muscle atrophy. Muscle biopsies showed variability in fiber size, centrally placed nuclei resembling fetal myotubes, and subsarcolemmal ringed and cen ...
DOI:
10.1073/pnas.1003677107
PubMed:
20682747
PubMed Central:
PMC2930454

45. A new pathway encompassing calpain 3 and its newly identified substrate cardiac ankyrin repeat protein is involved in the regulation of the nuclear factor-κB pathway in skeletal muscle

Author:
Laure, Lydie; Danièle, Nathalie; Suel, Laurence; Marchand, Sylvie; Aubert, Sophie; Bourg, Nathalie; Roudaut, Carinne; Duguez, Stéphanie; Bartoli, Marc; Richard, Isabelle
Source:
FEBS journal 2010 v.277 no.20 pp. 4322-4337
ISSN:
1742-464X
Subject:
muscular atrophy,   etc   ; calpain; cell viability; gene overexpression; hybrids; multiprotein complexes; muscles; muscular dystrophy; skeletal muscle; transcription factor NF-kappa B;     Show all 10 Subjects
Abstract:
... A multiprotein complex encompassing a transcription regulator, cardiac ankyrin repeat protein (CARP), and the calpain 3 protease was identified in the N2A elastic region of the giant sarcomeric protein titin. The present study aimed to investigate the function(s) of this complex in the skeletal muscle. We demonstrate that CARP subcellular localization is controlled by the activity of calpain 3: th ...
DOI:
10.1111/j.1742-4658.2010.07820.x
PubMed:
20860623

46. Molecular characterization and association analysis of FBXO40 with partial hematological indexes in pig

Author:
Wang, Z. W.; Li, X. Y.; Tang, Z. L.; Yang, S. L.; Ying, Z. Z.; Fu, T.; Fan, B.; Mu, Y. L.; Ao, H.; Li, K.
Source:
Molecular biology reports 2010 v.37 no.7 pp. 3393-3400
ISSN:
0301-4851
Subject:
muscular atrophy,   etc   ; F-box proteins; Large White; alleles; animal ovaries; brain; chromosomes; crossbreds; eukaryotic cells; heart; hemoglobin; kidneys; landraces; large intestine; liver; longissimus muscle; phylogeny; pituitary gland; polymerase chain reaction; restriction fragment length polymorphism; single nucleotide polymorphism; small intestine; spleen; statistical analysis; stomach; swine; testes; thymus gland; thyroid gland; uterus;     Show all 30 Subjects
Abstract:
... F-box proteins are quite significant ubiquitin-proteasome pathway regulators in eukaryotic cells. FBXO40, a member of this large family, alters its expression pattern in muscle atrophy. Here we isolated most of the verified porcine FBXO40 coding sequence (CDS) (2258 bp) and assigned it to the porcine chromosome 13q4.1-4.6 by using the INRA-Minnesota porcine radiation hybrid panel, and we also expl ...
DOI:
10.1007/s11033-009-9928-1
PubMed:
19943117

47. Inflammatory Myopathy with Severe Tongue Atrophy in Pembroke Welsh Corgi Dogs

Author:
Toyoda, Kaoru; Uchida, Kazuyuki; Matsuki, Naoaki; Sakai, Hideo; Kitagawa, Masato; Saito, Miyoko; Sasaki, Jun; Nakayama, Hiroyuki
ISSN:
1040-6387
Subject:
muscular atrophy,   etc   ; Western blotting; autoantibodies; biopsy; breeds; dog diseases; dogs; etiology; histopathology; muscles; muscular diseases; skeletal muscle; striated muscle; tongue; Japan;     Show all 15 Subjects
Abstract:
... A disease characterized by tongue and facial muscle atrophy has been recognized sporadically among Pembroke Welsh Corgi (PWC) dogs in Japan. The present study describes the pathologic findings of this canine syndrome. Histopathologic examinations were performed in 2 dogs, including a case of muscular biopsy. Identification and characterization of autoantibodies were attempted by fluorescent antibo ...
DOI:
10.1177/104063871002200605
PubMed:
21088170

48. Nutrition Implications of Heart Failure and Heart Transplantation in Children With Dilated Cardiomyopathy : A Case Series

Author:
Bailer, Judy; Kaufman, Beth D.
Source:
Infant, child & adolescent nutrition 2010 v.2 no.6 pp. 377-384
ISSN:
1941-4072
Subject:
muscular atrophy,   etc   ; adolescents; appetite; cardiomyopathy; children; heart failure; heart transplant; hospitals; immune response; infants; malnutrition; nutritional status; pain; pancreatitis; patients; tachypnea; tissue repair; total parenteral nutrition; vomiting; weight loss;     Show all 20 Subjects
Abstract:
... This article describes nutrition implications of pediatric dilated cardiomyopathy leading to heart transplantation with a focus on nutritional management of patients during the waiting time for a donor organ and the inpatient postoperative period. Optimization of nutritional status is essential during these periods as weight loss and malnutrition contribute to muscle atrophy, decreased functional ...
DOI:
10.1177/1941406410390937

49. SMN and Gemins: ‘We are family' … or are we?: Insights into the partnership between Gemins and the spinal muscular atrophy disease protein SMN

Author:
Cauchi, Ruben J.
Source:
BioEssays 2010 v.32 no.12 pp. 1077-1089
ISSN:
0265-9247
Subject:
muscular atrophy,   etc   ; genes; motor neurons; mutation; ribonucleoproteins; skeletal muscle; spliceosomes;     Show all 7 Subjects
Abstract:
... Gemins 2-8 and Unr‐interacting protein (UNRIP) are intimate partners of the survival motor neuron (SMN) protein, which is the determining factor for the neuromuscular disorder spinal muscular atrophy (SMA). The most documented role of SMN, Gemins and UNRIP occurs within the large macromolecular SMN complex and involves the cytoplasmic assembly of spliceosomal uridine‐rich small nuclear ribonucleop ...
DOI:
10.1002/bies.201000088

50. Spinal Muscular Atrophy— Summary for Nutritional Care : The Consensus Statement for Standard of Care in Spinal Muscular Atrophy

Author:
DiVito, Donna; Konek, Susan
Source:
Infant, child & adolescent nutrition 2010 v.2 no.6 pp. 348-354
ISSN:
1941-4072
Subject:
muscular atrophy,   etc   ; case studies; children; clinical trials; experts; guidelines; nutrition; patients; surveys; teams;     Show all 10 Subjects
Abstract:
... The Consensus Statement for Standard of Care in Spinal Muscular Atrophy was published in 2007 and provided guidance for interdisciplinary teams charged with the care of patients with spinal muscular atrophy (SMA). This standard was developed by the International Standard of Care Committee for Spinal Muscular Atrophy, which was formed in 2005. It was the goal of this committee to establish practice ...
DOI:
10.1177/1941406410390938