Literature summary for 3.1.6.8 extracted from

Boehringer, J.; Santer, R.; Schumacher, N.; Gieseke, F.; Cornils, K.; Pechan, M.; Kustermann-Kuhn, B.; Handgretinger, R.; Schoels, L.; Harzer, K.; Kraegeloh-Mann, I.; Mueller, I.
Enzymatic characterization of novel arylsulfatase A variants using human arylsulfatase A-deficient immortalized mesenchymal stromal cells (2017), Hum. Mutat., 38, 1511-1520 .

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Application

Application	Comment	Organism
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	Homo sapiens

Cloned(Commentary)

Cloned (Comment)	Organism
exprerssion in multipotent mesenchymal stromal cells	Homo sapiens

Protein Variants

Protein Variants	Comment	Organism
additional information	characterization of pathogenic variants c.98T > C, c.195delC, c.229G > C, c.545C > G, c.674A > G, c.852T > A, and c.1274A > G, 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	Homo sapiens

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	P15289	-	-

Synonyms

Synonyms	Comment	Organism
ARSA	-	Homo sapiens

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Release 2023.1 (January 2023)