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Article

Structural basis of the GM2 gangliosidosis B variant.

Journal of human genetics - 1 Jan 2003

Matsuzawa Fumiko, Aikawa Sei-ichi, Sakuraba Hitoshi, Lan Hoang Thi Ngoc, Tanaka Akemi, Ohno Kousaku, Sugimoto Yuko, Ninomiya Haruaki, Doi Hirofumi

Abstract excerpt

To study the structural basis of the GM2 gangliosidosis B variant, we constructed the three-dimensional structures of the human beta-hexosaminidase alpha-subunit and the heterodimer of the alpha- and beta-subunits, Hex A, by homology modeling. The alpha-subunit is composed of two domains, domains I and II. Nine mutant models due to specific missense mutations were constructed as well and compared with the wild...

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Identifiers

PMID: 14577003
DOI: 10.1007/s10038-003-0082-7

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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