نتایج جستجو برای: lysosomal disorders
تعداد نتایج: 684439 فیلتر نتایج به سال:
The lysosomal enzyme glucocerebrosidase, encoded by the glucocerebrosidase gene, is involved in the breakdown of glucocerebroside into glucose and ceramide. Lysosomal build-up of the substrate glucocerebroside occurs in cells of the reticulo-endothelial system in patients with Gaucher disease, a rare lysosomal storage disorder caused by the recessively inherited deficiency of glucocerebrosidase...
Among the estimated 20,000 to 40,000 human gene pairs (1) approximately 2000 single-gene alterations are now recognized (2). A specific protein alteration has been established or suggested for about 10% of these mutations (3). Most lysosomal storage disorders fall into this class of inherited metabolic disorders. The sphingolipidoses represent those lysosomal storage disorders in which the pred...
OBJECTIVE Hereditary spastic paraplegias (HSPs) are among the most genetically diverse inherited neurological disorders, with over 70 disease loci identified (SPG1-71) to date. SPG15 and SPG11 are clinically similar, autosomal recessive disorders characterized by progressive spastic paraplegia along with thin corpus callosum, white matter abnormalities, cognitive impairment, and ophthalmologic ...
Defective lysosomal acidification contributes to virtually all lysosomal storage disorders (LSDs) and to common neurodegenerative diseases like Alzheimer's and Parkinson's. Despite its fundamental importance, the mechanism(s) underlying this defect remains unclear. The v-ATPase, a multisubunit protein complex composed of cytosolic V1-sector and lysosomal membrane-anchored V0-sector, regulates l...
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