Pathogenicity classification of SOD1 variants of uncertain significance by in vitro aggregation propensity-Reference-Cited by-同舟云学术

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Pathogenicity classification of SOD1 variants of uncertain significance by in vitro aggregation propensity

Published:2023-03 Issue: Volume:123 Page:182-190
ISSN:0197-4580
Container-title:Neurobiology of Aging
language:en
Short-container-title:Neurobiology of Aging

Author:

Chen Lu-Xi,Xu Hai-Feng,Lin Hui-Xia,Yang Xin-Xia,Li Hong-Fu,Wu Zhi-Ying

Funder

National Natural Science Foundation of China

Zhejiang University

Fundamental Research Funds for the Central Universities

Publisher

Elsevier BV

Subject

Geriatrics and Gerontology,Developmental Biology,Neurology (clinical),Aging,General Neuroscience

Reference26 articles.

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3. Amyotrophic lateral sclerosis associated with homozygosity for an Asp90Ala mutation in CuZn-superoxide dismutase;Andersen;Nat. Genet.,1995

4. A mitochondrial origin for frontotemporal dementia and amyotrophic lateral sclerosis through CHCHD10 involvement;Bannwarth;Brain,2014

5. Superoxide dismutase 1 with mutations linked to familial amyotrophic lateral sclerosis possesses significant activity;Borchelt;Proc. Natl. Acad. Sci. U S A,1994

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1. MostSOD1mutations are pathogenic, and their identification can lead to early access to treatment;Journal of Neurology, Neurosurgery & Psychiatry;2024-06-26

2. Variability in SOD1-associated amyotrophic lateral sclerosis: geographic patterns, clinical heterogeneity, molecular alterations, and therapeutic implications;Translational Neurodegeneration;2024-05-29

3. Single-Nucleus RNA Sequencing Reveals Spatiotemporal Dynamics of Disease-Associated Microglia in Amyotrophic Lateral Sclerosis;2024

4. Breaking barriers with tofersen: Enhancing therapeutic opportunities in amyotrophic lateral sclerosis;European Journal of Neurology;2023-11-17

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