نتایج جستجو برای: sandhoff disease
تعداد نتایج: 1490121 فیلتر نتایج به سال:
Lysophosphatidic acid (LPA) and sphingosine 1-phosphate (S1P), two of the best-studied lysophospholipids, are known to influence diverse biological events, including organismal development as well as function and pathogenesis within multiple organ systems. These functional roles are due to a family of at least 11 G protein-coupled receptors (GPCRs), named LPA(1-6) and S1P(1-5), which are widely...
n-acetyl-b-d-glucosaminidase was purified by affinity and ionexchange chromatography. two major, a and b, and three minor intermediate forms were isolated and characterized. nag-a and nag-b were purified 440 and 1200 fold with final yields of 16 and 23 percent respectively. each activity was represented by a single protein band. after 70 min preincubation at 55°c a loss of70% activity of nag-a ...
Tay-Sachs disease is a severe lysosomal disorder caused by mutations in the HexA gene coding for the α-subunit of lysosomal β-hexosaminidase A, which converts G(M2) to G(M3) ganglioside. Hexa(-/-) mice, depleted of β-hexosaminidase A, remain asymptomatic to 1 year of age, because they catabolise G(M2) ganglioside via a lysosomal sialidase into glycolipid G(A2), which is further processed by β-h...
2006;44:421-428. 7. Roumie CL, Elasy TA, Greevy R, et al. Improving blood pressure control through provider education, provider alerts, and patient education. Ann Intern Med. 2006; 145:165-175. 8. Haynes RB, McDonald HP, Garg AX. Helping patients follow prescribed treatment. JAMA. 2002;288:2880-2883. 9. Petrilla AA, Benner JS, Battleman DS, Tierce JC, Hazard EH. Evidence-based interventions to ...
Karyotypical alteration of chromosome 5 and in particular band 5q13 is a frequent finding in hairy cell leukemia (HCL). We have previously identified a number of candidate genes localized in close proximity to a constitutional inv(5)(p13.1q13.3) breakpoint in one HCL patient. These included beta-hexosaminodase HEXB, frequently mutated in the lysosomal storage disorder Sandhoff disease. We now r...
Karyotypical alteration of chromosome 5 and in particular band 5q13 is a frequent finding in hairy cell leukemia (HCL). We have previously identified a number of candidate genes localized in close proximity to a constitutional inv(5)(p13.1q13.3) breakpoint in one HCL patient. These included beta-hexosaminodase HEXB, frequently mutated in the lysosomal storage disorder Sandhoff disease. We now r...
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