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

@article{Haack2016AbsenceOT,
  title={Absence of the Autophagy Adaptor SQSTM1/p62 Causes Childhood-Onset Neurodegeneration with Ataxia, Dystonia, and Gaze Palsy.},
  author={Tobias B. Haack and Erika Ignatius and Javier Calvo-Garrido and Arcangela Iuso and Pirjo Isohanni and Camilla Maffezzini and T L{\"o}nnqvist and Anu Suomalainen and Matteo Gorza and Laura S. Kremer and Elisabeth Graf and Monika B Hartig and Riccardo Berutti and Martin Paucar and Per Svenningsson and Henrik Stranneheim and G{\"o}ran Brandberg and Anna Wedell and Manju A. Kurian and Susan A Hayflick and Paola Venco and Valeria Tiranti and Tim Matthias Strom and Martin Dichgans and Rita Horvath and Elke Holinski-Feder and Christoph Freyer and Thomas Meitinger and Holger Prokisch and Jan Senderek and Anna Wredenberg and Christopher J. Carroll and Thomas Klopstock},
  journal={American journal of human genetics},
  year={2016},
  volume={99 3},
  pages={
          735-743
        }
}
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 dementia (FTD). Using exome sequencing, we identified three different biallelic loss-of… CONTINUE READING
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