دورية أكاديمية
Abnormal myotonic dystrophy protein kinase levels produce only mild myopathy in mice.
| العنوان: | Abnormal myotonic dystrophy protein kinase levels produce only mild myopathy in mice. |
|---|---|
| المؤلفون: | Jansen G; Department of Cell Biology and Histology, Medical Faculty, University of Nijmegen, The Netherlands., Groenen PJ, Bächner D, Jap PH, Coerwinkel M, Oerlemans F, van den Broek W, Gohlsch B, Pette D, Plomp JJ, Molenaar PC, Nederhoff MG, van Echteld CJ, Dekker M, Berns A, Hameister H, Wieringa B |
| المصدر: | Nature genetics [Nat Genet] 1996 Jul; Vol. 13 (3), pp. 316-24. |
| نوع المنشور: | Journal Article; Research Support, Non-U.S. Gov't |
| اللغة: | English |
| بيانات الدورية: | Publisher: Nature Pub. Co Country of Publication: United States NLM ID: 9216904 Publication Model: Print Cited Medium: Print ISSN: 1061-4036 (Print) Linking ISSN: 10614036 NLM ISO Abbreviation: Nat Genet Subsets: MEDLINE |
| أسماء مطبوعة: | Original Publication: New York, NY : Nature Pub. Co., c1992- |
| مواضيع طبية MeSH: | Cardiomegaly/*pathology , Myotonic Dystrophy/*enzymology , Protein Serine-Threonine Kinases/*biosynthesis, Animals ; Base Sequence ; Cardiomegaly/genetics ; Gene Expression Regulation, Developmental ; Homozygote ; Humans ; Mice ; Mice, Inbred C57BL ; Mice, Transgenic ; Molecular Sequence Data ; Muscle Fibers, Skeletal/pathology ; Mutation ; Myotonic Dystrophy/genetics ; Myotonic Dystrophy/pathology ; Myotonin-Protein Kinase ; Protein Serine-Threonine Kinases/deficiency ; Protein Serine-Threonine Kinases/genetics ; RNA, Messenger/analysis ; Tissue Distribution |
| مستخلص: | Myotonic dystrophy (DM) is commonly associated with CTG repeat expansions within the gene for DM-protein kinase (DMPK). The effect of altered expression levels of DMPK, which is ubiquitously expressed in all muscle cell lineages during development, was examined by disrupting the endogenous Dmpk gene and overexpressing a normal human DMPK transgene in mice. Nullizygous (-/-) mice showed only inconsistent and minor size changes in head and neck muscle fibres at older age, animals with the highest DMPK transgene expression showed hypertrophic cardiomyopathy and enhanced neonatal mortality. However, both models lack other frequent DM symptoms including the fibre-type dependent atrophy, myotonia, cataract and male-infertility. These results strengthen the contention that simple loss- or gain-of-expression of DMPK is not the only crucial requirement for development of the disease. |
| التعليقات: | Comment in: Nat Genet. 1996 Jul;13(3):259-60. (PMID: 8673118) |
| المشرفين على المادة: | 0 (DMPK protein, human) 0 (DMPK protein, mouse) 0 (RNA, Messenger) EC 2.7.11.1 (Myotonin-Protein Kinase) EC 2.7.11.1 (Protein Serine-Threonine Kinases) |
| تواريخ الأحداث: | Date Created: 19960701 Date Completed: 19960812 Latest Revision: 20211203 |
| رمز التحديث: | 20231215 |
| DOI: | 10.1038/ng0796-316 |
| PMID: | 8673131 |
| قاعدة البيانات: | MEDLINE |
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