کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
8259926 | 1534648 | 2015 | 12 صفحه PDF | دانلود رایگان |
عنوان انگلیسی مقاله ISI
Hereditary motor and sensory neuropathies: Understanding molecular pathogenesis could lead to future treatment strategies
ترجمه فارسی عنوان
حرکتی ارثی و نوروپاتی حسی: درک پاتوژنز مولکولی می تواند به راهبردهای درمان آینده منجر شود
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کلمات کلیدی
HMSNHereditary motor sensory neuropathyperiaxinhK1N-myc downstream-regulated gene 1LITAFDNM2Charcot Marie Tooth diseaseNDRG1MTMR2MNCVCx32PRXHSNHSPB1NT3GJB1CMAPPMP22MPZINF2CMTHMnAutosomal Dominant - اتسومال غالبAutosomal recessive - اتوزومال مغلوبhereditary motor and sensory neuropathy - ارثی و نوروپاتی حسیDynamin 2 - دینین 2motor nerve conduction velocity - سرعت هدایت عصب موتورMyelin - میلینneurotrophin-3 - نوروتروفین-3Hereditary motor neuropathy - نوروپاتی حرکتی ارثیHereditary sensory neuropathy - نوروپاتی عاطفی ارثیhexokinase 1 - هگزوکیناز 1Molecular pathogenesis - پاتوژنز مولکولیcompound muscle action potential - پتانسیل عمل عضله مرکبMyelin protein zero - پروتئین مایونین صفر استPeripheral myelin protein 22 - پرولین پرولیئین محیطی 22Molecular genetics - ژنتیک مولکولیConnexin 32 - کانکسین 32
موضوعات مرتبط
علوم زیستی و بیوفناوری
بیوشیمی، ژنتیک و زیست شناسی مولکولی
سالمندی
چکیده انگلیسی
Inherited peripheral neuropathies, like many other degenerative disorders, have been challenging to treat. At this point, there is little specific therapy for the inherited neuropathies other than genetic counseling as well as symptomatic treatment and rehabilitation. In the past, ascorbic acid, progesterone antagonists, and subcutaneous neurotrophin-3 (NT3) injections have demonstrated improvement in animal models of CMT 1A, the most common inherited neuropathy, but have failed to translate any effect in humans. Given the difficulty in treatment, it is important to understand the molecular pathogenesis of hereditary neuropathies in order to strategize potential future therapies. The hereditary neuropathies are in an era of molecular insight and over the past 20Â years, more than 78 subtypes of Charcot Marie Tooth disease (CMT) have been identified and extensively studied to understand the biological pathways in greater detail. Next generation molecular sequencing has also improved the diagnosis as well as the understanding of CMT. A greater understanding of the molecular pathways will help pave the way to future therapeutics of CMT. This article is part of a Special Issue entitled: Neuromuscular Diseases: Pathology and Molecular Pathogenesis.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease - Volume 1852, Issue 4, April 2015, Pages 667-678
Journal: Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease - Volume 1852, Issue 4, April 2015, Pages 667-678
نویسندگان
Nivedita U. Jerath, Michael E. Shy,