Arylsulfatase A pseudodeficiency in Mexico: Enzymatic activity and haplotype analysis
Molecular Genetics & Genomic Medicine, 2020 Background Metachromatic Leukodystrophy (MLD, OMIM 250100) is a neurodegenerative disease caused by mutations in the ARSA gene (OMIM 607574) that lead to deficiency in Arylsulfatase A (ASA).
Jesús A. Juárez‐Osuna +4 more
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Nature Communications, 2022 Non-alcoholic steatohepatitis (NASH) and type 2 diabetes are closely linked, but the connecting pathophysiological mechanisms are incompletely understood.
Magdalene K. Montgomery +16 more
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A closer look at ARSA activity in a patient with metachromatic leukodystrophy [PDF]
Molecular Genetics and Metabolism Reports, 2019 Metachromatic leukodystrophy (MLD) is an autosomal recessive lysosomal storage disease mainly caused by a deficiency of arylsulfatase A activity. The typical clinical course of patients with the late infantile form includes a regression in motor skills ...
Kathleen Doherty +6 more
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Arylsulfatase A pseudodeficiency in healthy Brazilian individuals [PDF]
Brazilian Journal of Medical and Biological Research, 1999 Molecular alterations associated with arylsulfatase A pseudodeficiency (ASA-PD) were characterized by PCR and restriction endonuclease analysis in a sample of healthy individuals from Brazil. ASA activity was also assayed in all subjects. Two individuals
C.G. Pedron +3 more
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Phylogenetic conservation of arylsulfatases. cDNA cloning and expression of human arylsulfatase B.
Journal of Biological Chemistry, 1990 A 2.2-kilobase cDNA clone for human arylsulfatase B (ASB) and several genomic clones were isolated and sequenced. The deduced amino acid sequence of 533 amino acids contains a 41-amino acid N-terminal signal peptide and a mature polypeptide of 492 amino acid residues.
C Peters +8 more
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Accumulation of lysosulfatide in the brain of arylsulfatase A-deficient mice
Lipids in Health and Disease, 2011 Lysosomal storage diseases are a group of disorders where accumulation of catabolites is manifested in the lysosomes of different cell types. In metachromatic leukodystrophy (Arylsulfatase A [EC.3.1.6.8] deficiency) storage of the glycosphingolipid ...
Månsson Jan-Eric +2 more
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Specific Fertilization Practices Reveal Important Insights into the Complex Interaction Between Microbes and Enzymes in Soils of Different Farming Systems [PDF]
LifeThe interaction of microorganisms and their enzyme activity is one of the key indicators for a comprehensive measurement of soil health. The aim of this study was to determine significant correlations between different soil microorganisms and enzyme ...
Maša Pintarič +3 more
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THE HISTOCHEMICAL DETECTION OF ARYLSULFATASES [PDF]
Journal of Histochemistry & Cytochemistry, 1962 Alexander B. Roy
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Hypoxia Reduces Arylsulfatase B Activity and Silencing Arylsulfatase B Replicates and Mediates the Effects of Hypoxia [PDF]
, 2012 This report presents evidence of 1) a role for arylsulfatase B (ARSB; N-acetylgalactosamine-4-sulfatase) in mediating intracellular oxygen signaling; 2) replication between the effects of ARSB silencing and hypoxia on sulfated glycosaminoglycan content ...
A Mayevsky +55 more
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Arylsulfatase A pseudodeficiency incidence in Turkey
The Turkish Journal of Pediatrics, 2000 Pseudodeficiency (Pd) in arylsulfatase A (ASA) is a relatively frequent condition in healthy individuals. It produces a reduction in enzyme activity similar to that found in metachromatic leukodystrophy (MLD). A variable incidence of the Pd allele
S Emre, M Topçu, M Terzioğlu, Y Renda
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