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Article

[Molecular pathogenesis and therapeutic approach of GM2 gangliosidosis].

Yakugaku zasshi : Journal of the Pharmaceutical Society of Japan - 1 Jan 2013

Tsuji Daisuke

Abstract excerpt

Tay-Sachs and Sandhoff diseases (GM2 gangliosidoses) are autosomal recessive lysosomal storage diseases caused by gene mutations in HEXA and HEXB, each encoding human lysosomal β-hexosaminidase α-subunits and β-subunits, respectively. In Tay-Sachs disease, excessive accumulation of GM2 ganglioside (GM2), mainly in the central nervous system, is caused by a deficiency of the HexA isozyme (αβ heterodimer),...

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Source

Identifiers

PMID: 23370522
DOI: 10.1248/yakushi.12-00199

Genes

HEXA
HEXB

Provenance

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[Molecular pathogenesis and therapeutic approach of GM2 gangliosidosis].PMID 23370522Read ↗

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