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Yilmaz, R.* ; Müller, K.* ; Brenner, D.* ; Volk, A.E.* ; Borck, G.* ; Hermann, A.* ; Meitinger, T. ; Strom, T.M. ; Danzer, K.M.* ; Ludolph, A.C.* ; Andersen, P.M.* ; Weishaupt, J.H.*

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

Neurobiol. Aging 87, 139.e9-139.e15 (2020)
DOI PMC
Open Access Green möglich sobald Postprint bei der ZB eingereicht worden ist.
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. (C) 2019 Elsevier Inc. All rights reserved.
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Publikationstyp Artikel: Journalartikel
Dokumenttyp Wissenschaftlicher Artikel
Schlagwörter Motor Neuron Disease ; Als ; Sqstm1 ; P62; Amyotrophic-lateral-sclerosis; Frontotemporal Lobar Degeneration; Mutations; Genes; Tbk1
Sprache englisch
Veröffentlichungsjahr 2020
Prepublished im Jahr 2019
HGF-Berichtsjahr 2019
ISSN (print) / ISBN 0197-4580
e-ISSN 1558-1497
Zeitschrift Neurobiology of Aging
Quellenangaben Band: 87, Heft: , Seiten: 139.e9-139.e15 Artikelnummer: , Supplement: ,
Verlag Elsevier
Verlagsort New York, NY [u.a.]
Begutachtungsstatus Peer reviewed
Institut(e) Institute of Human Genetics (IHG)
POF Topic(s) 30501 - Systemic Analysis of Genetic and Environmental Factors that Impact Health
Forschungsfeld(er) Genetics and Epidemiology
PSP-Element(e) G-500700-001
DOI 10.1016/j.neurobiolaging.2019.10.018
WOS ID WOS:000518217600020
Scopus ID 85076614211
PubMed ID 31859009
Erfassungsdatum 2020-01-28
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