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Article

SQSTM1/p62 variants in 486 patients with familial ALS from Germany and Sweden.

Neurobiology of aging - 1 Mar 2020

Yilmaz Rüstem, Müller Kathrin, Brenner David, Volk Alexander E, Borck Guntram, Hermann Andreas, Meitinger Thomas, Strom Tim M, Danzer Karin M, Ludolph Albert C, Andersen Peter M, Weishaupt Jochen H

Abstract excerpt

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...

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Identifiers

PMID: 31859009
DOI: 10.1016/j.neurobiolaging.2019.10.018

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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