Association of UBQLN1 mutation with Brown-Vialetto-Van Laere syndrome but not typical ALS.

ABSTRACT:

Unlabelled

Genetic variants in UBQLN1 gene have been linked to neurodegeneration and mutations in UBQLN2 have recently been identified as a rare cause of amyotrophic lateral sclerosis (ALS).

Objective

To test if genetic variants in UBQLN1 are involved in ALS.

Methods

102 and 94 unrelated patients with familial and sporadic forms of ALS were screened for UBQLN1 gene mutations. Single nucleotide variants were further screened in a larger set of sporadic ALS (SALS) patients and unrelated control subjects using high-throughput Taqman genotyping; variants were further assessed for novelty using the 1000Genomes and NHLBI databases. In vitro studies tested the effect of UBQLN1 variants on the ubiquitin-proteasome system (UPS).

Results

Only two UBQLN1 coding variants w

SUBMITTER: Gonzalez-Perez P 

PROVIDER: S-EPMC4245016 | biostudies-literature | 2012 Dec

REPOSITORIES: biostudies-literature