Results 261 to 270 of about 25,056,579 (316)
Some of the next articles are maybe not open access.
Structure of the arylsulfatase A gene
European Journal of Biochemistry, 1990A 14‐kb genomic clone containing the entire gene of human lysosomal arylsulfatase A was isolated. The arylsulfatase A gene is about 3.2 kb long and has eight exons (103–320 nucleotides in size). All intron–exon splice junctions conformed to the GT/AG consensus sequence.
J. Kreysing +2 more
openaire +4 more sources
Arylsulfatase A in pseudodeficiency
Human Genetics, 1984Arylsulfatase A (ASA) is found to be deficient in healthy individuals (pseudo arylsulfatase A deficiency) who usually show in vitro ASA levels in the range of metachromatic leukodystrophy patients. The in vitro properties of ASA in pseudodeficiency were studied in cultured fibroblasts.
Barbara Herz, Gideon Bach
openaire +3 more sources
Deficient glycosylation of arylsulfatase A in pseudo arylsulfatase-A deficiency
Molecular and Cellular Biochemistry, 1990Deficient arylsulfatase-A activity is diagnostic of a neurodegenerative human lysosomal storage disease, metachromatic leukodystrophy. Paradoxically, similar enzyme deficiency also occurs in normal individuals, who are known as being pseudo arylsulfatase-A deficient. We showed previously that this phenotype is associated with a structural gene mutation
Mohammed Ameen +5 more
openaire +3 more sources
Arylsulfatase A pseudodeficiency in Chinese
Human Genetics, 1996Arylsulfatase A (ASA) pseudodeficiency was found to be much rarer in Taiwan than in most western countries (2.5% versus 7.3%-20% carrier rate). The linkage of two mutations (A2725G and A1788G) in the pseudodeficiency allele was preserved in Chinese, and A2725G did not occur alone.
Wuh-Liang Hwu +5 more
openaire +3 more sources
Central Nervous System Agents in Medicinal Chemistry, 2017
The nervous system is responsible for the communication between the organism and its environment. This task is possible by the presence of the myelin sheath, which is a double membrane formed by about 75% lipids and 25% proteins. The sulfatide represents
Y. Echeverri Olga +5 more
semanticscholar +1 more source
The nervous system is responsible for the communication between the organism and its environment. This task is possible by the presence of the myelin sheath, which is a double membrane formed by about 75% lipids and 25% proteins. The sulfatide represents
Y. Echeverri Olga +5 more
semanticscholar +1 more source
A Km mutant of arylsulfatase A
Clinica Chimica Acta, 1982Abstract The apparent Michealis constant for p-nitrocatechol sulfate of arylsulfatase A of fibroblasts of a metachromatic leukodystrophy patient has been determined and compared to that of normal controls. Control cells gave an apparent Km of 0.7 mmol/l, while the apparent Km of patient's cells was determined to be 19.8 mmol/l.
F. A. Hommes +3 more
openaire +3 more sources
Diagnosis of arylsulfatase A deficiency
American Journal of Medical Genetics, 1992AbstractMetachromatic leukodystrophy (MLD) is a neurologically devastating autosomal recessive disorder in humans associated with deficient arylsulfatase A activity. However, clinically normal individuals described as being pseudo‐arylsulfatase‐A deficient also demonstrate the same deficiency.
Patricia L. Chang +2 more
openaire +3 more sources