کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
5633592 | 1406584 | 2016 | 5 صفحه PDF | دانلود رایگان |
عنوان انگلیسی مقاله ISI
International meeting of the French society of neurology 2016What have we learned about glycogenosis in recent years?
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کلمات کلیدی
موضوعات مرتبط
علوم زیستی و بیوفناوری
علم عصب شناسی
عصب شناسی
پیش نمایش صفحه اول مقاله
چکیده انگلیسی
The field of glycogenosis has been greatly expanded over the past few years with the discovery of new metabolic diseases that have allowed new metabolic pathways to be deciphered. Described here are the clinical and pathological features of four recently described muscle glycogenoses caused by GYS1, GYG1, RBCK1 and PGM1 gene mutations. The initial steps of glycogen synthesis are involved in deficiencies of glycogenin-1 (GYG1) and muscle glycogen synthase (GYS1). Phosphoglucomutase deficiency disrupts two metabolic pathways: the connection between galactose and glycogen on the one hand, and glucose metabolism on the other. However, the metabolic consequences of mutations in the ubiquitin ligase gene RBCK1 are still poorly understood.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Revue Neurologique - Volume 172, Issue 10, October 2016, Pages 541-545
Journal: Revue Neurologique - Volume 172, Issue 10, October 2016, Pages 541-545
نویسندگان
P. Laforêt,