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

• Published in: American journal of human genetics Vol. 99; no. 3; pp. 735 - 743
• Main Authors: 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
• Format: Journal Article
• Language: English
• Published: United States Elsevier Inc 01.09.2016; Cell Press; Elsevier
• Subjects: Adolescent; Adult; Age of Onset; Amyotrophic lateral sclerosis; Ataxia - complications; Ataxia - genetics; Autophagosomes - metabolism; Autophagosomes - pathology; Autophagy; Autophagy - genetics; Child; Cognition Disorders - genetics; Dementia; Dysarthria - complications; Dysarthria - genetics; Dystonia - complications; Dystonia - genetics; Female; Fibroblasts - metabolism; Gait - genetics; Genotype & phenotype; Humans; Male; Medicin och hälsovetenskap; Mitochondria; Mitochondria - metabolism; Mitochondria - pathology; Movement Disorders - complications; Movement Disorders - genetics; Neurodegenerative Diseases - complications; Neurodegenerative Diseases - genetics; Neurodegenerative Diseases - physiopathology; Pedigree; Phenotype; Proteins; RNA, Messenger - analysis; Sequestosome-1 Protein - deficiency; Sequestosome-1 Protein - genetics; Supranuclear Palsy, Progressive - complications; Supranuclear Palsy, Progressive - genetics; Young Adult

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...