Article
Enzymatic characterization of novel arylsulfatase A variants using human arylsulfatase A-deficient immortalized mesenchymal stromal cells.
Human mutation - 1 Nov 2017
Böhringer Judith, Santer René, Schumacher Neele, Gieseke Friederike, Cornils Kerstin, Pechan Maria, Kustermann-Kuhn Birgit, Handgretinger Rupert, Schöls Ludger, Harzer Klaus, Krägeloh-Mann Ingeborg, Müller Ingo
Abstract excerpt
Metachromatic leukodystrophy (MLD) is an autosomal-recessive lysosomal storage disease caused by mutations in the ARSA gene leading to arylsulfatase A (ARSA) deficiency and causing sulfatide accumulation. Main symptoms of the disease are progressive demyelination, neurological dysfunction, and reduced life expectancy. To date, more than 200 different ARSA variants have been reported in MLD patients. Here, we...
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