Results 11 to 20 of about 13,399 (245)
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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Brain MRI and biological diagnosis in five Tunisians MLD patients [PDF]
Diagnostic Pathology, 2012 Metachromatic leukodystrophy (MLD) is a recessive autosomal disease which is characterized by an accumulation of sulfatides in the central and peripheral nervous system. It is due to the enzyme deficiency of the sulfatide sulfatase i.e.
Barboura Ilhem +8 more
doaj +4 more sources
Adult metachromatic leukodystrophy: case report
Неврология, нейропсихиатрия, психосоматика, 2021 Metachromatic leukodystrophy (MLD) is a hereditary lysosomal storage disease inherited in an autosomal recessive pattern, which occurs across all age groups.
T. I. Prusova +3 more
doaj +1 more source
Soil enzyme activities after application of fungicide QuadrisR at increasing concentration rates
Plant, Soil and Environment, 2022 The study aimed to assess the effects of fungicide QuadrisR on activities of soil enzymes contributed to soil nutrient turnover. A batch laboratory experiment with QuadrisR-amended (0 mg/kg ds (dry soil) - 35.00 mg/kg ds) loamy sand soil was conducted ...
Silvena Boteva Boteva +5 more
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Pseudo arylsulfatase A deficiency Biosynthesis of an abnormal arylsulfatase A [PDF]
FEBS Letters, 1987 Pseudo arylsulfatase A deficiency, an asymptomatic condition, and metachromatic leukodystrophy, a severe neurodegenerative disease, are both associated with profound reductions of arylsulfatase A activity in man. We now report that with metabolic labelling, cultured pseudo deficient cells synthesized about 20% of the normal amount of arylsulfatase A at
Ameen, Mohammed, Chang, Patricia L.
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Arylsulfatase G, a Novel Lysosomal Sulfatase [PDF]
Journal of Biological Chemistry, 2008 The sulfatases constitute a conserved family of enzymes that specifically hydrolyze sulfate esters in a wide variety of substrates such as glycosaminoglycans, steroid sulfates, or sulfolipids. By modifying the sulfation state of their substrates, sulfatases play a key role in the control of physiological processes, including cellular degradation, cell ...
Frese, Marc-Andre +2 more
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Lysosomal arylsulfatase deficiencies in humans: Chromosome assignments for arylsulfatase A and B [PDF]
Proceedings of the National Academy of Sciences, 1979 Genetics of human lysosomal arylsulfatases A and B (aryl-sulfate sulfohydrolase, EC 3.1.6.1), associated with childhood disease, has been studied with human-rodent somatic cell hybrids. Deficiency of arylsulfatase A (ARS A ) in humans results in a progressive neurodegenerative disease, metachromatic leukodystrophy ...
C, DeLuca, J A, Brown, T B, Shows
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Arylsulfatase B induces melanoma apoptosis by the ubiquitin ligase COP1. [PDF]
J Biol ChemBhattacharyya S +5 more
europepmc +3 more sources
METACHROMATIC LEUKODYSTROPHY WITHOUT ARYLSULFATASE A DEFICIENCY [PDF]
Pediatric Research, 1979 Two siblings of consanguinous parents were noted to have a neurologic syndrome marked by developmental delay, regression of psychomotor performance, marked spasticity and progressive central nervous system degeneration. Markedly delayed nerve conduction times and a sural nerve biopsy which demonstrated changes typical of metachromatic leukodystrophy ...
L J, Shapiro +8 more
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Arylsulfatase K, a Novel Lysosomal Sulfatase [PDF]
Journal of Biological Chemistry, 2013 The human sulfatase family has 17 members, 13 of which have been characterized biochemically. These enzymes specifically hydrolyze sulfate esters in glycosaminoglycans, sulfolipids, or steroid sulfates, thereby playing key roles in cellular degradation, cell signaling, and hormone regulation.
Wiegmann, Elena +5 more
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