کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
3274633 1208474 2014 5 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
À propos d'un cas de maladie de Niemann-Pick type C : revue de la littérature
موضوعات مرتبط
علوم پزشکی و سلامت پزشکی و دندانپزشکی غدد درون ریز، دیابت و متابولیسم
پیش نمایش صفحه اول مقاله
À propos d'un cas de maladie de Niemann-Pick type C : revue de la littérature
چکیده انگلیسی
Cholesterol is an essential and structural constituent of cell walls. Its intracellular as well as extracellular regulation is important for organisms' function. Membranous lipids are unequally distributed in cell walls: membranous rafts are microdomains made of cholesterol and sphingolipids and are implicated in the lipid transportation, cellular polarization, and signalization. Niemann-Pick diseases are a group of lysosomal storage diseases subdivided in A, B and C types. The A and B types are caused by a sphingomyelinase acid deficiency. The A type causes an acute neuropathic form of the disease whereas the B type is responsible for a chronic form without neurological involvement. Finally, the Niemann-Pick C causes a similar clinical form as the A and B types and is due to lysosomal accumulation of cholesterol owing to a transport defect.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Médecine des Maladies Métaboliques - Volume 8, Issue 6, December 2014, Pages 603-607
نویسندگان
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