A Novel Synonymous Variant in SQSTM1 Causes Neurodegeneration With Ataxia, Dystonia, and Gaze Palsy Revealed by Urine‐Derived Cells‐Based Functional Analysis

A Novel Synonymous Variant in SQSTM1 Causes Neurodegeneration With Ataxia, Dystonia, and Gaze Palsy Revealed by Urine‐Derived Cells‐Based Functional Analysis

ABSTRACT Background Heterozygous variants of sequestosome‐1 gene (SQSTM1) have been reported in patients with various neurological disorders, whereas biallelic pathogenic variants of SQSTM1 can cause child‐onset and multisystem neurodegeneration, including cerebellar ataxia, dystonia, and vertical g...

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Bibliographic Details
Main Authors: Shinji Masuko, Mitsuto Sato, Katsuya Nakamura, Kohei Hamanaka, Satoko Miyatake, Yuji Inaba, Tomoki Kosho, Naomichi Matsumoto, Yoshiki Sekijima
Format: Article
Language:English
Published: Wiley 2024-11-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
GC‐AT intron
NADGP
SQSTM1
UDC
urine‐derived cell
Online Access:https://doi.org/10.1002/mgg3.70044
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https://doi.org/10.1002/mgg3.70044

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