An Amyotrophic Lateral Sclerosis-Associated Mutant of C21ORF2 Is Stabilized by NEK1-Mediated Hyperphosphorylation and the Inability to Bind FBXO3-Reference-Cited by-同舟云学术

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An Amyotrophic Lateral Sclerosis-Associated Mutant of C21ORF2 Is Stabilized by NEK1-Mediated Hyperphosphorylation and the Inability to Bind FBXO3

Published:2020-09 Issue:9 Volume:23 Page:101491
ISSN:2589-0042
Container-title:iScience
language:en
Short-container-title:iScience

Author:

Watanabe Yasuaki,Nakagawa Tadashi,Akiyama Tetsuya,Nakagawa Makiko,Suzuki Naoki,Warita Hitoshi,Aoki Masashi,Nakayama Keiko

Funder

Japan Society for the Promotion of Science

Publisher

Elsevier BV

Subject

Multidisciplinary

Reference53 articles.

1. The role of ubiquitin-protein ligases in neurodegenerative disease;Ardley;Neurodegener. Dis.,2004

2. SKP1 connects cell cycle regulators to the ubiquitin proteolysis machinery through a novel motif, F-box;Bai;Cell,1996

3. Dysregulation of core components of SCF complex in poly-glutamine disorders;Bhutani;Cell Death Dis,2012

4. NEK1 mutations in familial amyotrophic lateral sclerosis;Brenner;Brain.,2016

5. Amyotrophic lateral sclerosis;Brown;N. Engl. J. Med.,2017

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1. ALS-associated C21ORF2 variant disrupts DNA damage repair, mitochondrial metabolism, neuronal excitability and NEK1 levels in human motor neurons;Acta Neuropathologica Communications;2024-09-04

2. Clinicopathological analysis of NEK1 variants in amyotrophic lateral sclerosis;Brain Pathology;2024-07-10

3. Emerging Perspectives on Prime Editor Delivery to the Brain;Pharmaceuticals;2024-06-11

4. Characterising the Genetic Landscape of Amyotrophic Lateral Sclerosis: A Catalogue and Assessment of Over 1,000 Published Genetic Variants;Journal of Neuromuscular Diseases;2023-11-07

5. Pathogenicity and functional analysis of CFAP410 mutations causing cone-rod dystrophy with macular staphyloma;Frontiers in Medicine;2023-10-12

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