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• W2984008342 abstract "Several studies reported amyotrophic lateral sclerosis (ALS)-linked mutations in TBK1, OPTN, VCP, UBQLN2, and SQSTM1 genes encoding proteins involved in autophagy. SQSTM1 was originally identified by a candidate gene approach because it encodes p62, a multifunctional protein involved in protein degradation both through proteasomal regulation and autophagy. Both p62 and optineurin (encoded by OPTN) are direct interaction partners and substrates of TBK1, and these 3 proteins form the core of a genetic and functional network that may connect autophagy with ALS. Considering the molecular and conceptual relevance of the TBK1/OPTN/SQSTM1 “triangle,” we here performed a targeted screen for SQSTM1 variants in 486 patients with familial ALS from Germany and Sweden by analyzing whole-exome sequencing data. We report 9 novel and 5 previously reported rare variants in SQSTM1 and discuss the current evidence for SQSTM1 as a primary disease gene for ALS. We conclude that the evidence for causality remains vague for SQSTM1 and is weaker than for the other autophagy genes, for example, TBK1 and OPTN." @default.
• W2984008342 created "2019-11-22" @default.
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• W2984008342 date "2020-03-01" @default.
• W2984008342 modified "2023-10-16" @default.
• W2984008342 title "SQSTM1/p62 variants in 486 patients with familial ALS from Germany and Sweden" @default.
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• W2984008342 doi "https://doi.org/10.1016/j.neurobiolaging.2019.10.018" @default.
• W2984008342 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/31859009" @default.
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