FEBS Lett. 1991 Sep 23;290(1-2):1-3.

A mutation in the gene of a glycolipid-binding protein (GM2 activator) that causes GM2-gangliosidosis variant AB.

Schröder M, Schnabel D, Suzuki K, Sandhoff K.

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Institut für Organische Chemie und Biochemie Bonn, Germany.

Abstract

GM2-gangliosidoses are neurological disorders caused by a genetic deficiency of either the beta-hexosaminidase A or the GM2 activator, a glycolipid binding protein. In a patient with an immunologically proven GM2 activator protein deficiency, A T412----C transition (counted from A of the initiation codon) was found in the coding sequence, which results in the substitution of Arg for the normal Cys107 in the mature GM2 activator protein. The remainder of the coding sequence remained entirely normal.

PMID:: 1915858; [PubMed - indexed for MEDLINE]

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A Cys138-to-Arg substitution in the GM2 activator protein is associated with the AB variant form of GM2 gangliosidosis. [Am J Hum Genet. 1992]
A Cys138-to-Arg substitution in the GM2 activator protein is associated with the AB variant form of GM2 gangliosidosis.
Xie B, Wang W, Mahuran DJ. Am J Hum Genet. 1992 May; 50(5):1046-52.
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Xie B, Rigat B, Smiljanic-Georgijev N, Deng H, Mahuran D. Biochemistry. 1998 Jan 20; 37(3):814-21.
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A mutation in the gene of a glycolipid-binding protein (GM2 activator) that causes GM2-gangliosidosis variant AB.
FEBS Lett. 1991 Sep 23 ;290(1-2):1-3.

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