Protein defects in neuromuscular diseases
نویسندگان
چکیده
منابع مشابه
Respiratory failure in neuromuscular diseases.
A series is reported of five patients with acute respiratory failure complicating neuromuscular diseases, three of whom required assisted ventilation. Initially the arterial carbon dioxide tension fell to levels below the normal range in all the patients and this change reflects alveolar hyperventilation which is probably produced by a combination of fear, small airway collapse, and reflex tach...
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While transfer of a protein encoded by a single nucleus to nearby nuclei in multinucleated cells has been known for almost 25 years, the biological consequences for gain-of-function diseases have not been considered. Here, we have investigated nuclear protein spreading and its potential consequences in two of the three most prevalent neuromuscular diseases. By performing co-cultures between dis...
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The nephron, the basic structural and functional unit of the kidney, is lined by different, highly differentiated polarized epithelial cells. Their concerted action modifies the composition of the glomerular ultrafiltrate through reabsorption and secretion of essential solutes to finally produce urine. The highly specialized properties of the different epithelial cell types of the nephron are r...
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Utrophin is a large cytoskeletal protein that is homologous to dystrophin, the protein mutated in Duchenne and Becker muscular dystrophy. In skeletal muscle, dystrophin is broadly distributed along the sarcolemma whereas utrophin is concentrated at the neuromuscular junction. This differential localization, along with studies on cultured cells, led to the suggestion that utrophin is required fo...
متن کاملAdvances in translational research in neuromuscular diseases.
New therapies developed over the past 3 years for previously intractable diseases of skeletal muscle, neuromuscular junctions, peripheral nerves, and motor neurons are now being incorporated into our standard neuromuscular clinical practice. The past 3 years were also marked by important advances in our understanding of the pathogenesis and pathophysiology of inherited and acquired neuromuscula...
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ژورنال
عنوان ژورنال: Brazilian Journal of Medical and Biological Research
سال: 2003
ISSN: 0100-879X
DOI: 10.1590/s0100-879x2003000500001