Article

Abnormally accumulated GM2 ganglioside contributes to skeletal deformity in Tay-Sachs disease mice

2024-02-16

Abstract excerpt

<title>Abstract</title> <p>Tay-Sachs Disease is a rare lysosomal storage disorder caused by mutations in the <italic>HEXA</italic> gene which is responsible for the degradation of ganglioside GM2. In addition to progressive neurodegeneration, Tay-Sachs patients display bone anomalies including kyphosis. Tay-Sachs disease mouse model (<italic>Hexa-/-Neu3-/-</italic>) shows both neuropathological and clinical abnor...

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Literature Corpus work: 75317dc8-22a6-5ed0-bdf1-467d72d624b6
DOI: 10.21203/rs.3.rs-3933766/v1

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