Absence of the Autophagy Adaptor SQSTM1/p62 Causes Childhood-Onset Neurodegeneration with Ataxia, Dystonia, and Gaze Palsy.

doi:10.1016/j.ajhg.2016.06.026

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Article

Absence of the Autophagy Adaptor SQSTM1/p62 Causes Childhood-Onset Neurodegeneration with Ataxia, Dystonia, and Gaze Palsy.

American journal of human genetics - 1 Sept 2016

Haack Tobias B, Ignatius Erika, Calvo-Garrido Javier, Iuso Arcangela, Isohanni Pirjo, Maffezzini Camilla, Lönnqvist Tuula, Suomalainen Anu, Gorza Matteo, Kremer Laura S, Graf Elisabeth, Hartig Monika, Berutti Riccardo, Paucar Martin, Svenningsson Per, Stranneheim Henrik, Brandberg Göran, Wedell Anna, Kurian Manju A, Hayflick Susan A, Venco Paola, Tiranti Valeria, Strom Tim M, Dichgans Martin, Horvath Rita, Holinski-Feder Elke, Freyer Christoph, Meitinger Thomas, Prokisch Holger, Senderek Jan, Wredenberg Anna, Carroll Christopher J, Klopstock Thomas

Abstract excerpt

SQSTM1 (sequestosome 1; also known as p62) encodes a multidomain scaffolding protein involved in various key cellular processes, including the removal of damaged mitochondria by its function as a selective autophagy receptor. Heterozygous variants in SQSTM1 have been associated with Paget disease of the bone and might contribute to neurodegeneration in amyotrophic lateral sclerosis (ALS) and frontotemporal...

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PMID: 27545679
DOI: 10.1016/j.ajhg.2016.06.026
PMCID: PMC5010644

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SQSTM1

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