دورية أكاديمية
Abnormal expression of intermediate filament proteins in X-linked myotubular myopathy is not reproduced in vitro.
| العنوان: | Abnormal expression of intermediate filament proteins in X-linked myotubular myopathy is not reproduced in vitro. |
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| المؤلفون: | Van der Ven PF; Department of Cell Biology and Histology, University of Nijmegen, The Netherlands., Jap PH, Barth PG, Sengers RC, Ramaekers FC, Stadhouders AM |
| المصدر: | Neuromuscular disorders : NMD [Neuromuscul Disord] 1995 Jul; Vol. 5 (4), pp. 267-75. |
| نوع المنشور: | Case Reports; Journal Article |
| اللغة: | English |
| بيانات الدورية: | Publisher: Pergamon Press Country of Publication: England NLM ID: 9111470 Publication Model: Print Cited Medium: Print ISSN: 0960-8966 (Print) Linking ISSN: 09608966 NLM ISO Abbreviation: Neuromuscul Disord Subsets: MEDLINE |
| أسماء مطبوعة: | Original Publication: Oxford ; New York : Pergamon Press, c1991- |
| مواضيع طبية MeSH: | Genetic Linkage* , X Chromosome*, Intermediate Filaments/*genetics , Muscular Diseases/*genetics, Cells, Cultured/chemistry ; Desmin/analysis ; Desmin/genetics ; Fluorescent Antibody Technique ; Genetic Markers ; Humans ; In Vitro Techniques ; Infant, Newborn ; Male ; Muscle, Skeletal/chemistry ; Muscle, Skeletal/cytology ; Myosins/analysis ; Myosins/classification ; Vimentin/analysis ; Vimentin/genetics |
| مستخلص: | Expression patterns of the intermediate filament proteins (IFPs) desmin and vimentin, in biopsy material taken from a 1 day old boy with fatal neonatal X-linked myotubular myopathy (XLMTM) were compared with the expression of these proteins in cultured myotubes, from the same patient. Immunohistochemical studies revealed the persistence of high levels of desmin in virtually all, and vimentin in most, of the myofibres within the patient's biopsy. Analysis of intermediate filament expression in differentiating, cultured muscle cells did not reveal overt differences between XLMTM cultures and cultures of control muscle. Titin distribution patterns indicated a normal process of myofibrillogenesis in XLMTM myotubes. We conclude that the failure to properly regulate IFP-expression is not intrinsic to XLMTM muscle fibres. The possibility that this failure is due to a defective external, possibly neural factor, is discussed. |
| المشرفين على المادة: | 0 (Desmin) 0 (Genetic Markers) 0 (Vimentin) EC 3.6.4.1 (Myosins) |
| تواريخ الأحداث: | Date Created: 19950701 Date Completed: 19951127 Latest Revision: 20191023 |
| رمز التحديث: | 20240627 |
| DOI: | 10.1016/0960-8966(94)00067-j |
| PMID: | 7580238 |
| قاعدة البيانات: | MEDLINE |
Full Text Finder | تدمد: | 0960-8966 |
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| DOI: | 10.1016/0960-8966(94)00067-j |