Intravenous arylsulfatase A in metachromatic leukodystrophy: a phase 1/2 study
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DOI: 10.1002/acn3.51254
Abstract: Metachromatic leukodystrophy (MLD) is an autosomal recessive lysosomal storage disease caused by deficient activity of arylsulfatase A (ASA), resulting in severe motor and cognitive dysfunction. This phase 1/2 study evaluated the safety and efficacy of… read more here.
Keywords: metachromatic leukodystrophy; phase study; arylsulfatase;
Enzymatic characterization of novel arylsulfatase A variants using human arylsulfatase A‐deficient immortalized mesenchymal stromal cells
Sign Up to like & getrecommendations! Published in 2017 at "Human Mutation"
DOI: 10.1002/humu.23306
Abstract: Metachromatic leukodystrophy (MLD) is an autosomal‐recessive lysosomal storage disease caused by mutations in the ARSA gene leading to arylsulfatase A (ARSA) deficiency and causing sulfatide accumulation. Main symptoms of the disease are progressive demyelination, neurological… read more here.
Keywords: mesenchymal stromal; arsa; deficient; stromal cells ... See more keywords
Functional characterization of arylsulfatase B mutations in Indian patients with Maroteaux-Lamy syndrome (mucopolysaccharidosis type VI).
Sign Up to like & getrecommendations! Published in 2017 at "Gene"
DOI: 10.1016/j.gene.2016.11.005
Abstract: MPS VI is an autosomal recessive disorder which occurs due to the deficiency of N-acetyl galactosamine-4-sulfatase (Arylsulfatase B - ARSB) involved in catabolism of dermatan sulfate resulting from disease-causing variations in the ARSB gene. Human… read more here.
Keywords: characterization arylsulfatase; functional characterization; arylsulfatase mutations; arylsulfatase ... See more keywords
Increased GPNMB, phospho-ERK1/2, and MMP-9 in cystic fibrosis in association with reduced arylsulfatase B.
Sign Up to like & getrecommendations! Published in 2018 at "Molecular genetics and metabolism"
DOI: 10.1016/j.ymgme.2018.02.012
Abstract: BACKGROUND GPNMB was increased in a CF gene array and in Arylsulfatase B (ARSB; N-acetylgalactosamine-4-sulfatase)-null mice, consistent with previous reports that ARSB is reduced in cystic fibrosis (CF). Implications of GPNMB increase in CF are… read more here.
Keywords: cystic fibrosis; increased gpnmb; arylsulfatase; phospho erk1 ... See more keywords
Arylsulfatase K is the Lysosomal 2-Sulfoglucuronate Sulfatase.
Sign Up to like & getrecommendations! Published in 2017 at "ACS chemical biology"
DOI: 10.1021/acschembio.6b01033
Abstract: The degradation of glycosaminoglycans (GAGs) involves a series of exolytic glycosidases and sulfatases that act sequentially on the nonreducing end of the polysaccharide chain. Enzymes have been cloned that catalyze all of the known linkages… read more here.
Keywords: sulfoglucuronate; sulfatase arylsulfatase; arylsulfatase lysosomal; arylsulfatase ... See more keywords