ArticlePloS one2017
DCTN1 gene analysis in Chinese patients with sporadic amyotrophic lateral sclerosis.
Article in PloS one, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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Who cites it
17 citing papers in PubMed, 24 citations in OpenAlex.
- Amyotrophic Lateral Sclerosis: Focus on Cytoplasmic Trafficking and Proteostasis.Molecular neurobiology · 2025Review
- The role of autophagy in the pathogenesis and treatment of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD).Autophagy reports · 2025Review
- Genetic link betweenFrontiers in aging neuroscience · 2024Article
- ALS-plus related clinical and genetic study from China.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2023Article
- Reduced levels of ALS geneFrontiers in neuroscience · 2023Article
- Multiple roles for the cytoskeleton in ALS.Experimental neurology · 2022Review
- Autophagy Dysfunction in ALS: from Transport to Protein Degradation.Journal of molecular neuroscience : MN · 2022Review
- Neuromuscular Junction Dysfunction in Amyotrophic Lateral Sclerosis.Molecular neurobiology · 2022Review
- Insights into the SARS-CoV-2-Mediated Alteration in the Stress Granule Protein Regulatory Networks in Humans.Pathogens (Basel, Switzerland) · 2021Article
- Dynactin1 depletion leads to neuromuscular synapse instability and functional abnormalities.Molecular neurodegeneration · 2019Article
- Autophagy as a common pathway in amyotrophic lateral sclerosis.Neuroscience letters · 2019Review
- The pattern of use and survival outcomes of a dedicated adult Home Ventilation and Respiratory Support Service in Singapore: a 7-year retrospective observational cohort study.Journal of thoracic disease · 2019Article
- Motor Neuron Susceptibility in ALS/FTD.Frontiers in neuroscience · 2019Review
- The Peripheral Nervous System in Amyotrophic Lateral Sclerosis: Opportunities for Translational Research.Frontiers in neuroscience · 2019Review
- A Systematic Review of Suggested Molecular Strata, Biomarkers and Their Tissue Sources in ALS.Frontiers in neurology · 2019Review
- The epidemiology and genetics of Amyotrophic lateral sclerosis in China.Brain research · 2018Review
- The rs696880 Polymorphism in the Nogo-A Receptor Gene (Frontiers in aging neuroscience · 2018Article
Corrections and comments
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Authors and funding
6 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disorder. Missense mutations of DCTN1 have been identified as a possible genetic risk factor for ALS. Here, we tested the DCTN1 protein-coding exons in 510 sporadic ALS patients in whom SOD1, TARDBP, FUS, and C9orf72 genes were screened before. Polymerase chain reaction and Sanger sequencing were used for mutation discovery. The results revealed two rare heterozygous missense variants, c.1867C>T (p.R623W) and c.2798C>T (p.A933V). These two patients exhibited spinal disease onset without cognitive impairment, and their onset age and diagnosis delay was within the average range of Chinese ALS patients. Our results suggested that variants in DCTN1 are not common risk factors for Chinese sporadic ALS and that the frequency of variants of unknown significance in the cohort study was 0.39%.
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