کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
2553548 1560769 2007 5 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
Genetic disorders caused by mutated acetylcholine receptors
موضوعات مرتبط
علوم پزشکی و سلامت پزشکی و دندانپزشکی کاردیولوژی و پزشکی قلب و عروق
پیش نمایش صفحه اول مقاله
Genetic disorders caused by mutated acetylcholine receptors
چکیده انگلیسی

The nicotinic acetylcholine receptors (nAChRs) are members of the large family of ligand-gated ion channels and are constituted by the assembly of five subunits arranged pseudosymmetrically around the central axis that forms a cation-selective ion pore. They are widely distributed in both the nervous system and non-neuronal tissues, and can be activated by endogenous agonists such as acetylcholine or exogenous ligands such as nicotine. Mutations in neuronal nAChRs are found in a rare form of familial nocturnal frontal lobe epilepsy (ADNFLE), while mutations in the neuromuscular subtype of the nAChR are responsible for either congenital myasthenia syndromes (adult subtype of neuromuscular nAChR) or a form of arthrogryposis multiplex congenita type Escobar (fetal subtype of neuromuscular nAChR).

ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Life Sciences - Volume 80, Issues 24–25, 30 May 2007, Pages 2186–2190
نویسندگان
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