نتایج جستجو برای: aspartoacylase enzyme
تعداد نتایج: 241038 فیلتر نتایج به سال:
We describe 14 patients with 12 novel missense mutations in ASPA, the gene causing Canavan disease (CD). We developed a method to study the effect of these 12 variants on the function of aspartoacylase-the hydrolysis of N-acetyl-l-aspartic acid (NAA) to aspartate and acetate. The wild-type ASPA open reading frame (ORF) and the ORFs containing each of the variants were transfected into HEK293 ce...
Introduction Canavan disease (CD) is an autosomal recessive leukodystrophy associated with spongy degeneration of the white matter of the brain, leading to mental retardation, megalencephaly and early death {I). Brain histology in CD shows characteristic spongy degeneration of the white matter and astrocytic swelling, while neurons are spared. Aspartoacylase (ASPA) deficiency is the basic defec...
The blood brain barrier (BBB) refers to the complex anatomical barrier in the brain composed of endothelial cells, astroglia, pericytes, perivascular macrophages and basal lamina. Its selectivity controls the entry of substances into the Central Nervous System (CNS) [1]. BBB disruption affects neurodegeneration [2] and in some cases can be harnessed to deliver intravenous therapeutics to the CN...
Objective Canavan disease (CD) is a type of vacuolating leukodystrophy with autosomal recessive inheritance. Aspartoacylase deficiency results in decrease of myelin biosynthesis, dysmyelination and brain edema. Although CD is a very common in Ashkenazi Jews patients, several cases have been reported from non-Jewish population. This report is based on a homozygous C.202G>A mutation in the ASPA g...
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