Associated Papers
Novel Biallelic SQSTM1 Mutation Causing a Subacute-Onset Complex Movement Disorder with Oculomotor Abnormalities.
de Almeida Marcelino AL et al.
Movement Disorders Clinical Practice, 2025
A Novel Synonymous Variant in SQSTM1 Causes Neurodegeneration With Ataxia, Dystonia, and Gaze Palsy Revealed by Urine-Derived Cells-Based Functional Analysis.
Masuko S et al.
Molecular Genetics & Genomic Medicine, 2024
39587727 (PubMed )
Supplement: MGG3-12-e70044-s001.xlsx › Table
Proteotoxic stress disrupts epithelial integrity by inducing MTOR sequestration and autophagy overactivation.
Cheng X et al.
Autophagy, 2023
Homozygous SQSTM1 nonsense variant identified in a patient with brainstem involvement.
Kilic MA et al.
Brain & Development, 2021
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