Novel UBQLN2 mutations linked to amyotrophic lateral sclerosis and atypical hereditary spastic paraplegia phenotype through defective HSP70-mediated proteolysis.

doi:10.1016/j.neurobiolaging.2017.06.018

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Article

Novel UBQLN2 mutations linked to amyotrophic lateral sclerosis and atypical hereditary spastic paraplegia phenotype through defective HSP70-mediated proteolysis.

Neurobiology of aging - 1 Oct 2017

Teyssou Elisa, Chartier Laura, Amador Maria-Del-Mar, Lam Roselina, Lautrette Géraldine, Nicol Marie, Machat Selma, Da Barroca Sandra, Moigneu Carine, Mairey Mathilde, Larmonier Thierry, Saker Safaa, Dussert Christelle, Forlani Sylvie, Fontaine Bertrand, Seilhean Danielle, Bohl Delphine, Boillée Séverine, Meininger Vincent, Couratier Philippe, Salachas François, Stevanin Giovanni, Millecamps Stéphanie

Abstract excerpt

Mutations in UBQLN2 have been associated with rare cases of X-linked juvenile and adult forms of amyotrophic lateral sclerosis (ALS) and ALS linked to frontotemporal dementia (FTD). Here, we report 1 known (c.1489C>T, p.Pro497Ser, P497S) and 3 novel (c.1481C>T, p.Pro494Leu, P494L; c.1498C>T, p.Pro500Ser, P500S; and c.1516C>G, p.Pro506Ala, P506A) missense mutations in the PXX domain of UBQLN2 in familial motor...

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Identifiers

PMID: 28716533
DOI: 10.1016/j.neurobiolaging.2017.06.018

Genes

UBQLN2

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

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