First report of novel mutation (c.790del) on <scp> <i>SQSTM1</i> </scp> gene on a family with childhood onset of progressive cerebellar ataxia with vertical gaze palsy-Reference-Cited by-同舟云学术

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First report of novel mutation (c.790del) on SQSTM1 gene on a family with childhood onset of progressive cerebellar ataxia with vertical gaze palsy

Published:2022-08 Issue:8 Volume:10 Page:
ISSN:2050-0904
Container-title:Clinical Case Reports
language:en
Short-container-title:Clinical Case Reports

Author:

Jalali Hossein¹²^ORCID,Khoshaeen Atefeh²,Mahdavi Mohammad Reza¹^ORCID,Mahdavi Mahan²³

Affiliation:

1. Thalassemia Research Center, Hemoglobinopathies Institute Mazandaran University of Medical Sciences Sari Iran

2. Sinayemehr Research Center Mazandaran University Sari Iran

3. Department of Biomedical Engineering, Science and Research Branch Islamic Azad University Tehran Iran

Publisher

Wiley

Subject

General Medicine

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ccr3.6203

Reference10 articles.

1. Genomic structure and promoter analysis of the p62 gene encoding a non-proteasomal multiubiquitin chain binding protein

2. SQSTM1/p62: A Potential Target for Neurodegenerative Disease

3. Trends in the Molecular Pathogenesis and Clinical Therapeutics of Common Neurodegenerative Disorders

4. Unfolding the role of protein misfolding in neurodegenerative diseases

5. p62 links the autophagy pathway and the ubiqutin–proteasome system upon ubiquitinated protein degradation

Cited by 2 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. A Novel Variant in SQSTM1 Gene Causing Neurodegeneration with Ataxia, Dystonia, and Gaze Palsy in a Peruvian Family;Movement Disorders Clinical Practice;2024-03-26

2. Cognitive Impairment, Ataxia, Dystonia, and Gaze Palsy Due to a Novel Variant in SQSTM1: New Lessons;Movement Disorders;2024-01-26

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