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Article

Structural consequences of amino acid substitutions causing Tay-Sachs disease.

Molecular genetics and metabolism - 1 Aug 2008

Ohno Kazuki, Saito Seiji, Sugawara Kanako, Sakuraba Hitoshi

Abstract excerpt

To determine the structural changes in the alpha-subunit of beta-hexosaminidase due to amino acid substitutions causing Tay-Sachs disease, we built structural models of mutant alpha-subunits resulting from 33 missense mutations (24 infantile and 9 late-onset), and analyzed the influence of each amino acid replacement on the structure by calculating the number of atoms affected and determining the...

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Identifiers

PMID: 18490185
DOI: 10.1016/j.ymgme.2008.04.006

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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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