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Article

A pathogenic HEXA missense variant in wild boars with Tay-Sachs disease.

Molecular genetics and metabolism - 1 Jul 2021

Bertani Valeria, Prioni Simona, Di Lecce Rosanna, Gazza Ferdinando, Ragionieri Luisa, Merialdi Giuseppe, Bonilauri Paolo, Jagannathan Vidhya, Grassi Sara, Cabitta Livia, Paoli Antonella, Morrone Amelia, Sonnino Sandro, Drögemüller Cord, Cantoni Anna Maria

Abstract excerpt

Gangliosidoses are inherited lysosomal storage disorders caused by reduced or absent activity of either a lysosomal enzyme involved in ganglioside catabolism, or an activator protein required for the proper activity of a ganglioside hydrolase, which results in the intra-lysosomal accumulation of undegraded metabolites. We hereby describe morphological, ultrastructural, biochemical and genetic features of GM2...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 34119419
DOI: 10.1016/j.ymgme.2021.05.001

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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