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Article

Mutations in UBQLN2 are rare in French amyotrophic lateral sclerosis.

Neurobiology of aging - 1 Apr 2012

Millecamps Stéphanie, Corcia Philippe, Cazeneuve Cécile, Boillée Séverine, Seilhean Danielle, Danel-Brunaud Véronique, Vandenberghe Nadia, Pradat Pierre-François, Le Forestier Nadine, Lacomblez Lucette, Bruneteau Gaëlle, Camu William, Brice Alexis, Meininger Vincent, LeGuern Eric, Salachas François

Abstract excerpt

Mutations in UBQLN2 encoding ubiquilin-2 have recently been identified in families with dominant X-linked juvenile and adult-onset amyotrophic lateral sclerosis (ALS) and ALS/dementia. Ubiquilin-2 is a component of the ubiquitin inclusions detected in degenerating neurons in ALS patients. All the previously reported UBQLN2 mutations were localized in 1 of the 12 PXX domains of ubiquilin-2 protein. We sequenced...

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Source

Identifiers

PMID: 22169395
DOI: 10.1016/j.neurobiolaging.2011.11.010

Genes

UBQLN2

Variants

Provenance

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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