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Results: 1 to 10 of 10

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Wasting mechanisms in muscular dystrophy.
Shin J, Tajrishi MM, Ogura Y, Kumar A
(2013) Int J Biochem Cell Biol 45: 2266-79
MeSH Terms: Animals, Humans, Muscle, Skeletal, Muscular Dystrophies, NF-kappa B, Signal Transduction
Show Abstract · Added March 3, 2014
Muscular dystrophy is a group of more than 30 different clinical genetic disorders that are characterized by progressive skeletal muscle wasting and degeneration. Primary deficiency of specific extracellular matrix, sarcoplasmic, cytoskeletal, or nuclear membrane protein results in several secondary changes such as sarcolemmal instability, calcium influx, fiber necrosis, oxidative stress, inflammatory response, breakdown of extracellular matrix, and eventually fibrosis which leads to loss of ambulance and cardiac and respiratory failure. A number of molecular processes have now been identified which hasten disease progression in human patients and animal models of muscular dystrophy. Accumulating evidence further suggests that aberrant activation of several signaling pathways aggravate pathological cascades in dystrophic muscle. Although replacement of defective gene with wild-type is paramount to cure, management of secondary pathological changes has enormous potential to improving the quality of life and extending lifespan of muscular dystrophy patients. In this article, we have reviewed major cellular and molecular mechanisms leading to muscle wasting in muscular dystrophy. This article is part of a Directed Issue entitled: Molecular basis of muscle wasting.
Copyright © 2013 Elsevier Ltd. All rights reserved.
0 Communities
1 Members
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6 MeSH Terms
Splicing fidelity, enhancers, and disease.
Solis AS, Shariat N, Patton JG
(2008) Front Biosci 13: 1926-42
MeSH Terms: Alternative Splicing, Animals, Chromosome Mapping, Enhancer Elements, Genetic, Exons, Gene Silencing, Growth Hormone, Heterogeneous-Nuclear Ribonucleoproteins, Humans, Introns, Muscular Dystrophies, Mutation, Parkinsonian Disorders, RNA Splicing, Spliceosomes
Show Abstract · Added May 27, 2014
Eukaryotic pre-mRNA splicing allows for a large, diverse proteome to be coded by a relatively small genome. Alternative splicing events are well regulated, but when mutations disrupt the splice sites or regulatory elements, disease can occur. Similarly, mutations can cause disease through aberrant transcript production. Enhancers, one of the splicing regulatory elements, are frequent targets of disease causing mutations. This review provides an overview of the splicing reaction and mechanisms of alternative splicing and provides examples of enhancer defects that cause disease.
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15 MeSH Terms
Functional magnetic resonance imaging evidence for task-specific activation of developmentally abnormal visual association cortex.
Smith CD, Trevathan ER, Zhang M, Andersen AH, Avison MJ
(1999) Ann Neurol 45: 515-8
MeSH Terms: Adult, Female, Humans, Magnetic Resonance Imaging, Muscular Dystrophies, Photic Stimulation, Task Performance and Analysis, Visual Cortex
Show Abstract · Added December 10, 2013
Functional magnetic resonance imaging was performed on a 36-year-old woman with muscular dystrophy, intractable epilepsy, and bilateral temporo-occipital lissencephaly. We observed islands of task-specific activation in lissencephalic cortex homologous to visual association regions activated in normal subjects on the same visual confrontation naming task. This result suggests lissencephalic cortex may develop specific functional connections with other brain regions.
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8 MeSH Terms
Multiple episodes of thrombosis with biventricular support devices with inadequate anticoagulation and evidence of accelerated intravascular coagulation.
Despotis GJ, Levine V, Joist H, Santoro SA, Mendeloff E
(1997) J Thorac Cardiovasc Surg 113: 419-22
MeSH Terms: Adolescent, Anticoagulants, Cardiomyopathy, Dilated, Coronary Thrombosis, Heart-Assist Devices, Heparin, Humans, Male, Muscular Dystrophies, Platelet Activation, Warfarin
Added March 5, 2014
1 Communities
1 Members
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11 MeSH Terms
Human selenoprotein P gene maps to 5q31.
Hill KE, Dasouki M, Phillips JA, Burk RF
(1996) Genomics 36: 550-1
MeSH Terms: Chromosome Mapping, Chromosomes, Human, Pair 5, Humans, In Situ Hybridization, Fluorescence, Leukemia, Myeloid, Acute, Muscular Dystrophies, Myelodysplastic Syndromes, Proteins, Selenoprotein P, Selenoproteins
Added March 5, 2014
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10 MeSH Terms
A generalized membrane defect in heritable myotonia: studies of erythrocytes in an animal model and patients.
Atkinson JB, Swift LL, Lankford PG, LeQuire VS
(1980) Proc Soc Exp Biol Med 163: 69-75
MeSH Terms: Animals, Calcium, Erythrocyte Membrane, Erythrocytes, Female, Goats, Humans, Male, Membrane Lipids, Membrane Proteins, Membranes, Muscular Dystrophies, Myotonia, Osmotic Fragility, Phospholipids, Sialic Acids
Added May 27, 2014
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16 MeSH Terms
Erythrocytes in Duchenne dystrophy.
Atkinson JB, Swift LL, LeQuire VS
(1981) Neurology 31: 364-5
MeSH Terms: Erythrocyte Indices, Erythrocyte Membrane, Humans, Muscular Dystrophies
Added May 27, 2014
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1 Members
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4 MeSH Terms
A pilot trial of plasma infusions in Duchenne muscular dystrophy.
Arthur H, Austin L, Roberts LJ
(1988) Aust Paediatr J 24 Suppl 1: 24-30
MeSH Terms: Adolescent, Blood Transfusion, Child, Disability Evaluation, Humans, Male, Muscular Dystrophies, Pilot Projects, Plasma, Tocopherols, Vitamin E, alpha-Tocopherol
Show Abstract · Added December 10, 2013
It has been proposed that a defect in tocopherol transport may lead to a chronic vitamin deficiency in Duchenne muscular dystrophy (DMD). To test this hypothesis, a pilot clinical trial which involved the infusion of tocopherol-laden plasma was carried out. An increased uptake of tocopherol into erythrocyte membranes during infusions failed to produce a significant reduction in plasma enzyme levels or to arrest the dystrophic process in the two children examined. Further studies to investigate treatments with increased amounts of tocopherol, in conjunction with other antioxidants, may prove a more fruitful avenue of research.
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12 MeSH Terms
Myoblast therapy.
Epstein HF, Fischman DA, Bader D, Changeux JP, Buckhold K, Ordahl CP, Hoffman E, Kedes LH, Konieczny S, Leinwand LA
(1992) Science 257: 738
MeSH Terms: Adult, Child, Humans, Male, Muscles, Muscular Dystrophies, Transplantation
Added September 28, 2015
1 Communities
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7 MeSH Terms
Erythrocyte membrane abnormalities in Duchenne muscular dystrophy monitored by saturation transfer electron paramagnetic resonance spectroscopy.
Wilkerson LS, Perkins RC, Roelofs R, Swift L, Dalton LR, Park JH
(1978) Proc Natl Acad Sci U S A 75: 838-41
MeSH Terms: Adolescent, Child, Child, Preschool, Electron Spin Resonance Spectroscopy, Erythrocyte Membrane, Erythrocytes, Humans, Male, Muscular Dystrophies, Time Factors
Show Abstract · Added May 27, 2014
Saturation transfer electron paramagnetic resonance and the spin label 2-(3-carboxypropyl)-4,4-dimethyl-2-tridecyl-3-oxazolidinyloxyl were used to study erythrocytes from patients with Duchenne muscular dystrophy or Becker syndrome and from age-matched normal boys. There were significant differences in the spectral intensities of erythrocytes from Duchenne patients when compared to controls. Spectral intensities increased with time in the former; no such change was observed in the latter. Saturation transfer electron paramagnetic resonance spectra of erythrocytes from patients with Becker syndrome were significantly different from those from Duchenne patients but were not significantly different from normals. These observations suggest the possible usefulness of these techniques in the differential diagnosis of Duchenne muscular dystrophy. Spin label concentration spectral studies suggest that the observed spectral differences between Duchenne patients and controls were due to differential spin exchange phenomena.
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10 MeSH Terms