UBQLN2 mutations are rare in French and French-Canadian amyotrophic lateral sclerosis

Neurobiology of Aging
Hussein DaoudGuy Rouleau

Abstract

Mutations in the UBQLN2 gene, which encodes a member of the ubiquitin-like protein family (ubiquilin-2), have been recently identified in patients with dominant X-linked amyotrophic lateral sclerosis (ALS) and ALS with dementia. We report here the sequencing of the UBQLN2 gene in 590 ALS patients of French and French-Canadian ancestry. We identified two novel missense mutations (p.S155N and p.P189T) in two individuals with sporadic ALS. Bioinformatic analysis predicts that these missense mutations affect the normal protein's function. Importantly, these findings further highlight the importance of the proline residues located in the conserved domains of the ubiquilin-2 protein, suggesting that mutations affecting these residues are particularly relevant to the development of ALS. Our findings further support a causative role of the UBQLN2 gene in the pathogenesis of ALS and suggest that UBQLN2 mutations are rare in the French and French-Canadian population.

References

Jul 24, 2001·Amyotrophic Lateral Sclerosis and Other Motor Neuron Disorders : Official Publication of the World Federation of Neurology, Research Group on Motor Neuron Diseases·B R BrooksUNKNOWN World Federation of Neurology Research Group on Motor Neuron Diseases
Jul 19, 2005·Journal of Neurology, Neurosurgery, and Psychiatry·P J Shaw
Oct 13, 2011·Nature Reviews. Neurology·Hussein Daoud, Guy A Rouleau

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Citations

Jan 21, 2014·Antioxidants & Redox Signaling·Chris McKinnon, Sarah J Tabrizi
Nov 2, 2013·Neurologic Clinics·Matthew B Harms, Robert H Baloh
Apr 29, 2014·Annals of Neurology·Akl C FahedChristine E Seidman
Aug 27, 2013·Neurobiology of Aging·Russell Lewis McLaughlinOrla Hardiman
Aug 13, 2013·Neuron·Shuo-Chien LingDon W Cleveland
Mar 5, 2014·The International Journal of Biochemistry & Cell Biology·Katharine Y ZhangIan P Blair
Jul 13, 2016·Acta Neuropathologica Communications·Vincent Picher-MartelNicolas Dupré
Feb 13, 2020·Cells·Emiliano VicencioUte Woehlbier
Sep 24, 2020·The Biochemical Journal·Tongyin ZhengCarlos A Castañeda
Aug 18, 2020·Molecular Neurodegeneration·Terry R Suk, Maxime W C Rousseaux
May 26, 2017·Frontiers in Molecular Neuroscience·Hamideh ShahheydariJulie D Atkin
Apr 20, 2019·International Journal of Molecular Sciences·Salinee JantrapiromMasamitsu Yamaguchi
Jul 20, 2019·Acta Neuropathologica Communications·Laurence RenaudJean-Pierre Julien
Nov 28, 2020·Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova·A V AlessenkoA A Ustyugov
Dec 6, 2020·The Journal of Biological Chemistry·Alexandra M WhiteleyDaniel Finley
Sep 6, 2020·Neurobiology of Disease·Suvi HäkkinenSuzee E Lee
Apr 8, 2018·Neuroscience Letters·Dao K H NguyenJiou Wang
Jun 1, 2021·Autophagy·Jason P ChuaSami J Barmada

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