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Article

Mutations in TGM6 induce the unfolded protein response in SCA35.

Human molecular genetics - 1 Oct 2017

Tripathy Debasmita, Vignoli Beatrice, Ramesh Nandini, Polanco Maria Jose, Coutelier Marie, Stephen Christopher D, Canossa Marco, Monin Marie-Lorraine, Aeschlimann Pascale, Turberville Shannon, Aeschlimann Daniel, Schmahmann Jeremy D, Hadjivassiliou Marios, Durr Alexandra, Pandey Udai B, Pennuto Maria, Basso Manuela

Abstract excerpt

Spinocerebellar ataxia type 35 (SCA35) is a rare autosomal-dominant neurodegenerative disease caused by mutations in the TGM6 gene, which codes for transglutaminase 6 (TG6). Mutations in TG6 induce cerebellar degeneration by an unknown mechanism. We identified seven patients bearing new mutations in TGM6. To gain insights into the molecular basis of mutant TG6-induced neurotoxicity, we analyzed all the seven new...

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Identifiers

PMID: 28934387
DOI: 10.1093/hmg/ddx259

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TGM6

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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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