نتایج جستجو برای: sandhoff disease
تعداد نتایج: 1490121 فیلتر نتایج به سال:
Sandhoff Disease (SD) is an autosomal recessive neurodegenerative disease caused by a mutation in the Hexb gene for the β-subunit of β-hexosaminidase A, resulting in the inability to catabolize ganglioside GM2 within the lysosomes. SD presents with an accumulation of GM2 and its asialo derivative GA2 primarily in the CNS. Myelin-enriched glycolipids, cerebrosides and sulfatides, are also decrea...
Fortgeführt von A. Kossei, F.Knoop, K.Thomas, F. Lynen, A. Butenandt und G. Weitzel Herausgegeben von K.Decker, W.Stoffel, H.G.Zachau unter Mitwirkung von H. Eggerer, J. Engel, H. Fritz, E. Habermann, E. Helmreich, A. Henschen, B. Hess, N. Hilschmann, H. Hilz, P.W. Jungblut, K. Jungermann, P. Karlson, H. Kleinkauf, H.L. Kornberg, K. Kühn, D. Oesterhelt, K. Rajewsky, K. Sandhoff, R. Schauer, J. ...
The specific activities of lysosomal hydrolases in cultured skin fibroblasts and amniotic fluid cells showed wide and unpredictable variations between cultures, which may lead to difficulty in differentiating normal, heterozygous, and homozygous cells. However, the variability for a given culture was similar for all enzymes assayed, so that a clearer differentiation of a relative deficiency of ...
In Sandhoff disease (SD), the activity of the lysosomal hydrolytic enzyme, β-hexosaminidase (Hex), is lost due to a Hexb gene defect, which results in the abnormal accumulation of the substrate, GM2 ganglioside (GM2), in neuronal cells, causing neuronal loss, microglial activation, and astrogliosis. We established induced pluripotent stem cells from the cells of SD mice (SD-iPSCs). In the prese...
BACKGROUND GM2-gangliosidosis is a fatal neurodegenerative lysosomal storage disease (LSD) caused by deficiency of either β-hexosaminidase A (Hex-A) and β-hexosaminidase B (Hex-B) together, or the GM2 activator protein. Clinical signs can be variable and are not pathognomonic for the specific, causal deficiency. OBJECTIVES To characterize the phenotype and genotype of GM2-gangliosidosis disea...
Sandhoff disease (SD) is caused by the loss of β-hexosaminidase (Hex) enzymatic activity in lysosomes resulting from Hexb mutations. In SD patients, the Hex substrate GM2 ganglioside accumulates abnormally in neuronal cells, resulting in neuronal loss, microglial activation, and astrogliosis. Hexb-/- mice, which manifest a phenotype similar to SD, serve as animal models for examining the pathop...
Symmetric change of the entire area of the bilateral thalami, as with panthalamic lesions, plus involvement of other regions in the brain rarely occurs to previously healthy children. The term, acute necrotizing encephalopathy of childhood, has recently been proposed. Its clinical, radiological, and pathological features are described. This disease predominantly affects infants and young childr...
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