کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
938633 924752 2011 9 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
Papel de la genética en la etiología de las sinucleinopatías
موضوعات مرتبط
علوم زیستی و بیوفناوری بیوشیمی، ژنتیک و زیست شناسی مولکولی سالمندی
پیش نمایش صفحه اول مقاله
Papel de la genética en la etiología de las sinucleinopatías
چکیده انگلیسی
The protein family known as synucleins is composed of α-, β- and γ-synuclein. The most widely studied is the α-synuclein protein due to its participation in essential processes of the central nervous system. Neurotoxicity of this protein is related to the presence of multiplications (duplications and triplications) and point mutations in the gene sequence of the α-synuclein gene (SNCA), differential expression of its isoforms and variations in post-transductional modifications. Neurotoxicity is also related to cytoplasmic inclusions known as Lewy bodies (LBs) and Lewy neurites (LNs), which are also present in α-synucleinopathies. In general, the β-synuclein protein, codified by the SNCB gene, acts as a regulator of processes triggered by α-synuclein and its function is altered by variations in the gene sequence, while γ-synuclein, codified by the SNCG gene, seems to play a major role in certain tumoral processes.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Revista Española de Geriatría y Gerontología - Volume 46, Supplement 1, 31 October 2011, Pages 3-11
نویسندگان
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