Results 11 to 20 of about 7,425 (206)

Adult metachromatic leukodystrophy: case report

open access: yesНеврология, 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

open access: yesPlant, 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
doaj   +1 more source

Pseudo arylsulfatase A deficiency Biosynthesis of an abnormal arylsulfatase A [PDF]

open access: yesFEBS 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.
openaire   +2 more sources

Arylsulfatase B induces melanoma apoptosis by the ubiquitin ligase COP1. [PDF]

open access: goldJ Biol Chem
Bhattacharyya S   +5 more
europepmc   +3 more sources

Arylsulfatase G, a Novel Lysosomal Sulfatase [PDF]

open access: yesJournal 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
openaire   +4 more sources

Lysosomal arylsulfatase deficiencies in humans: Chromosome assignments for arylsulfatase A and B [PDF]

open access: yesProceedings 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
openaire   +2 more sources

METACHROMATIC LEUKODYSTROPHY WITHOUT ARYLSULFATASE A DEFICIENCY [PDF]

open access: yesPediatric 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
openaire   +2 more sources

Arylsulfatase K, a Novel Lysosomal Sulfatase [PDF]

open access: yesJournal 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
openaire   +2 more sources

Extremely low arylsulfatase A enzyme activity does not necessarily cause symptoms: A long‐term follow‐up and review of the literature

open access: yesJIMD Reports, 2022
Metachromatic leukodystrophy (MLD) is an autosomal recessive lysosomal storage disease caused by deficiency of arylsulfatase A (ARSA). Heterozygous carriers of disease‐causing variants and individuals harbouring pseudodeficiency alleles in the ARSA gene ...
Lucia Laugwitz   +10 more
doaj   +1 more source

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