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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Hlavní autoři:	Shinji Masuko, Mitsuto Sato, Katsuya Nakamura, Kohei Hamanaka, Satoko Miyatake, Yuji Inaba, Tomoki Kosho, Naomichi Matsumoto, Yoshiki Sekijima
Médium:	Artigo
Jazyk:	Inglês
Vydáno:	Wiley 2024-11-01
Edice:	Molecular Genetics & Genomic Medicine
Témata:	GC‐AT intron NADGP SQSTM1 UDC urine‐derived cell
On-line přístup:	https://doi.org/10.1002/mgg3.70044
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