کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
3081787 | 1189398 | 2007 | 12 صفحه PDF | دانلود رایگان |
عنوان انگلیسی مقاله ISI
Dystrobrevins in muscle and non-muscle tissues
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کلمات کلیدی
CMDBMDNMJAChRsnNOSLGMDDMDBLOC-1Neuromuscular junction - اتصال عصبی عضلانیDamage - خسارتBecker muscular dystrophy - دیستروفی عضلانی بکرDuchenne muscular dystrophy - دیستروفی عضلانی دوشنCongenital muscular dystrophy - دیستروفی عضلانی مادرزادیlimb girdle muscular dystrophy - دیستروفی عضلانی کمربند کمرMuscular dystrophy - دیستروفی ماهیچهای، دیستروفی عضلانیneuronal nitric oxide synthase - سنتاز اکسید نیتریک عصبیGABAA - گاباAcetylcholine receptors - گیرنده های استیل کولین
موضوعات مرتبط
علوم زیستی و بیوفناوری
علم عصب شناسی
علوم اعصاب تکاملی
پیش نمایش صفحه اول مقاله
![عکس صفحه اول مقاله: Dystrobrevins in muscle and non-muscle tissues Dystrobrevins in muscle and non-muscle tissues](/preview/png/3081787.png)
چکیده انگلیسی
The α- and β-dystrobrevins belong to the family of dystrophin-related and dystrophin-associated proteins. As constituents of the dystrophin-associated protein complex, α-dystrobrevin was believed to have a role predominantly in muscles and β-dystrobrevin in non-muscle tissues. Recent reports described novel localisations and molecular characteristics of α-dystrobrevin isoforms in non-muscle tissues (developing and adult). While single and double knockout studies have revealed distinct functions of dystrobrevin in some tissues, these also suggested a strong compensatory mechanism, where dystrobrevins displaying overlapping tissue expression pattern and structure/function similarity can substitute each other. No human disease has been unequivocally associated within mutations of dystrobrevin genes. However, some significant exceptions to these overlapping expression patterns, mainly in the brain, suggest that dystrobrevin mutations might underlie some specific motor, behavioural or cognitive defects. Dystrobrevin binding partner DTNBP1 (dysbindin) is a probable susceptibility gene for schizophrenia and bipolar affective disorder in some populations. As dysbindin abnormality is linked to Hermansky-Pudlak syndrome, dystrobrevins and/or their binding partners may also be required for proper function of other non-muscle tissues.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Neuromuscular Disorders - Volume 17, Issue 2, February 2007, Pages 123-134
Journal: Neuromuscular Disorders - Volume 17, Issue 2, February 2007, Pages 123-134
نویسندگان
Melissa L.J. Rees, Chun-Fu Lien, Dariusz C. Górecki,