3.1.6.8: cerebroside-sulfatase
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For detailed information about cerebroside-sulfatase, go to the full flat file.
Word Map on EC 3.1.6.8
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3.1.6.8
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metachromatic
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leukodystrophy
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sulfatide
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medicine
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lysosomal
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asa
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demyelinate
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sural
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pseudodeficiency
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nitrocatechol
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sulfatases
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molecular biology
- 3.1.6.8
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metachromatic
- leukodystrophy
- sulfatide
- medicine
- lysosomal
- asa
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demyelinate
-
sural
-
pseudodeficiency
- nitrocatechol
-
sulfatases
- molecular biology
Reaction
Synonyms
ARS, ARSA, arylsulfatase A, arylsulfatase E, arylsulfatase-A, AS-A, ASA, cerebroside sulfatase, cerebroside sulfate sulfatase, Cerebroside-sulfatase, sulfatase, cerebroside
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APPLICATION 
ORGANISM
UNIPROT
COMMENTARY 
LITERATURE
medicine
molecular biology
Ars can be very useful for clarifying the mechanisms underpinning syndromes caused by the deficiency of the function of Ars genes
medicine
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deficiency in metachromatic leukodystrophy, a sphingolipid storage disorder
medicine
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enzyme effective in dispersing the cumulus cells of rabbit ova
medicine
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assay of activity in leukocytes as a non-invasive diagnostic tool in patients with benign and malignant breast disease
medicine
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metachromatic leukodystrophy is a lysosomal storage disorder caused by the deficiency of enzyme
medicine
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the enzyme is implicated in most cases of metachromatic leukodystrophy
medicine
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availability of AS-A on the sperm surface is important for the dispersion of cumulus layers of cumulus oocyte complexes
medicine
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availability of AS-A on the sperm surface is important for the dispersion of cumulus layers of cumulus oocyte complexes
medicine
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therapeutic levels of ARSA overexpression can be safetly achieved. ARSA-transduced cells efficiently repopulate the hematopoietic organs of RAG2-/- gamma-chain-/- mice. ARSA overexpression does not impair clonogenic capacity and multilineage differentiation of human HSPC cells, activation of other sulfatases and is thus unlikely to trigger metabolic imbalances. Moreover, ARSA overexpression does not impair immune functions, behavior and learning abilities
medicine
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tyrosine sulfation facilitates secretion of ASA, which may have pathophysiological consequences
medicine
metachromatic leukodystrophy is caused by deficient activity of arylsulfatase A
medicine
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enzyme replacement therapy is a therapeutic option for metachromatic leukodystrophy, caused by enzyme-deficiency, and other lysosomal disorders. This therapy depends on N-linked oligosaccharide-mediated delivery of intravenously injected recombinant enzyme to the lysosomes of patient cells
medicine
characterization of pathogenic variants C490R, P428L, N284K, P428L, H425R, Y225C and P428L, which were found when sequencing a cohort of 31 German metachromatic leukodystrophy families. Upon expression in immortalized, human multipotent mesenchymal stromal cells prepared from a patient deficient in ARSA activity, the seven mutants show ARSA activity of less than 10% when compared with wild type
medicine
mutation H231Q occurs in three patients belonging to a consanguineous family with late-infantile metachromatic leukodystrophy disorder MLD. The mutation leads to changes in the pre-mRNA secondary structure and in the ArsA protein structure
