GENE OVERVIEW OF KEY PUBLISHED STUDIES FOR ALS


GeneSQSTM1
Other namesp60; p62; A170; OSIL; PDB3; ZIP3; p62B
Gene namesequestosome 1
Gene inheritanceFALS genes found in SALS
Discovery methodCandidate gene
Category 
Chromosome5q35
GRCh37 (hg19)Chr5:179233388-179265078 ( +)
GRCh38 (hg38)Chr5:179806388-179838078(+)
BackgroundTo examine whether SQSTM1 mutations contribute to familial and sporadic amyotrophic lateral sclerosis (ALS).
ResultUsing candidate gene identification based on prior biological knowledge and the functional prediction of rare variants, several novel SQSTM1 mutations in patients with ALS were identified.
Mutations17
Patients16
FALSSALSMaleFemaleBulbarLimbNo dataMean age onsetN
7911541205016

BIOINFORMATICS

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ANIMAL MODELS

                               

KEY PUBLICATIONS (4)

First_AuthorYearTitlePaper
Fecto2011SQSTM1 mutations in familial and sporadic amyotrophic lateral sclerosisFull_Paper
Hirano2013Mutations in the gene encoding p62 in Japanese patients with amyotrophic lateral sclerosisFull_Paper
Le Ber2013SQSTM1 Mutations in French Patients With Frontotemporal Dementia or Frontotemporal Dementia With Amyotrophic Lateral SclerosisFull_Paper
Özoguz2015The distinct genetic pattern of ALS in Turkey and novel mutationsFull_Paper