Associated Papers
Characterization of the genetic and clinical landscapes of DCTN1 gene in neurodegenerative diseases: a series of large case-control study.
Hou X et al.
Npj Genomic Medicine, 2025
Human Mutant Dynactin Subunit 1 Causes Profound Motor Neuron Disease Consistent with Possible Mechanisms Involving Axonopathy, Mitochondriopathy, Protein Nitration, and T-Cell-Mediated Cytolysis.
Xie V et al.
Biomolecules, 2025
DCTN1-associated neurological disorder with symptoms similar to spinal bulbar muscular atrophy.
Lee B et al.
Journal of Neuromuscular Diseases, 2025
Clinical and neurophysiological characterization of p.Gly59Ser mutation in DCTN1: a study in a Thai family and a brief review.
Pasutharnchat N et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2025
Correction: Clinical and neurophysiological characterization of p.Gly59Ser mutation in DCTN1: a study in a Thai family and a brief review.
Pasutharnchat N et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2025
Severe dynein dysfunction in cholinergic neurons exacerbates ALS-like phenotypes in a new mouse model.
Simoes FA et al.
Biochimica Et Biophysica Acta. Molecular Basis of Disease, 2025
The role of autophagy in the pathogenesis and treatment of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD).
Beckers J et al.
Autophagy Reports, 2025
A systematic review and functional in-silico analysis of genes and variants associated with amyotrophic lateral sclerosis.
Arreola-Aldape CA et al.
Frontiers in Neuroscience, 2025
Exploring the Role of Axons in ALS from Multiple Perspectives.
Chen X et al.
Cells, 2024
Axonopathy Underlying Amyotrophic Lateral Sclerosis: Unraveling Complex Pathways and Therapeutic Insights.
Luan T et al.
Neuroscience Bulletin, 2024
Perry Disease: Bench to Bedside Circulation and a Team Approach.
Mishima T et al.
Biomedicines, 2024
Wild-Type DCTN1 Suppresses the Aggregation of DCTN1 Mutants Associated with Perry Disease.
Fukui Y et al.
Biological & Pharmaceutical Bulletin, 2024
Speech- and language-linked FOXP2 mutation targets protein motors in striatal neurons.
Kuo HY et al.
Brain : a Journal of Neurology, 2023
Disruption of axonal transport in neurodegeneration.
Berth SH et al.
The Journal of Clinical Investigation, 2023
Deficiency of Perry syndrome-associated p150Glued in midbrain dopaminergic neurons leads to progressive neurodegeneration and endoplasmic reticulum abnormalities.
Yu J et al.
Npj Parkinson's Disease, 2023
Amyotrophic lateral sclerosis.
Younger DS et al.
Handbook of Clinical Neurology, 2023
Characterising the Genetic Landscape of Amyotrophic Lateral Sclerosis: A Catalogue and Assessment of Over 1,000 Published Genetic Variants.
McCann EP et al.
Journal of Neuromuscular Diseases, 2023
Multiple roles for the cytoskeleton in ALS.
Liu X et al.
Experimental Neurology, 2022
Autophagy Dysfunction in ALS: from Transport to Protein Degradation.
Cozzi M et al.
Journal of Molecular Neuroscience : Mn, 2022
Are transient protein-protein interactions more dispensable?
Ghadie MA et al.
Plos Computational Biology, 2022
An identical DCTN1 mutation in two Chinese siblings manifest as dHMN and ALS respectively: a case report.
He J et al.
Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2022
Selective expression of neurodegenerative diseases-related mutant p150Glued in midbrain dopaminergic neurons causes progressive degeneration of nigrostriatal pathway.
Yu J et al.
Ageing and Neurodegenerative Diseases, 2022
A novel Q93H missense mutation in DCTN1 caused distal hereditary motor neuropathy type 7B and Perry syndrome from a Chinese family.
Zhang J et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2021
The Skeletal Muscle Emerges as a New Disease Target in Amyotrophic Lateral Sclerosis.
Pikatza-Menoio O et al.
Journal of Personalized Medicine, 2021
DCTN1 Binds to TDP-43 and Regulates TDP-43 Aggregation.
Deshimaru M et al.
International Journal of Molecular Sciences, 2021
Dynein-dynactin segregate meiotic chromosomes in C. elegans spermatocytes.
Barbosa DJ et al.
Development (cambridge, England), 2021
Perry Disease: Concept of a New Disease and Clinical Diagnostic Criteria.
Tsuboi Y et al.
Journal of Movement Disorders, 2021
Destination Amyotrophic Lateral Sclerosis.
Keon M et al.
Frontiers in Neurology, 2021
Mutation Edgotype Drives Fitness Effect in Human.
Ghadie M et al.
Frontiers in Bioinformatics, 2021
The expanding genetic landscape of hereditary motor neuropathies.
Beijer D et al.
Brain : a Journal of Neurology, 2020
Perry syndrome: a case of atypical parkinsonism with confirmed DCTN1 mutation: a response.
Tacik P et al.
The New Zealand Medical Journal, 2020
Cell-Clearing Systems Bridging Repeat Expansion Proteotoxicity and Neuromuscular Junction Alterations in ALS and SBMA.
Limanaqi F et al.
International Journal of Molecular Sciences, 2020
New phenotype of DCTN1-related spectrum: early-onset dHMN plus congenital foot deformity.
Tian WT et al.
Annals of Clinical and Translational Neurology, 2020
Autophagy and Ubiquitin-Proteasome System Coordinate to Regulate the Protein Quality Control of Neurodegenerative Disease-Associated DCTN1.
Wang N et al.
Neurotoxicity Research, 2020
The Neglected Genes of ALS: Cytoskeletal Dynamics Impact Synaptic Degeneration in ALS.
Castellanos-Montiel MJ et al.
Frontiers in Cellular Neuroscience, 2020
Estimating dispensable content in the human interactome.
Ghadie M et al.
Nature Communications, 2019
Dynactin1 depletion leads to neuromuscular synapse instability and functional abnormalities.
Bercier V et al.
Molecular Neurodegeneration, 2019
Defects in Axonal Transport in Inherited Neuropathies.
Beijer D et al.
Journal of Neuromuscular Diseases, 2019
Rab-dependent cellular trafficking and amyotrophic lateral sclerosis.
Parakh S et al.
Critical Reviews in Biochemistry and Molecular Biology, 2018
DCTN1 F52L mutation case of Perry syndrome with progressive supranuclear palsy-like tauopathy.
Honda H et al.
Parkinsonism & Related Disorders, 2018
Establishing diagnostic criteria for Perry syndrome.
Mishima T et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2018
Genetic ablation of dynactin p150Glued in postnatal neurons causes preferential degeneration of spinal motor neurons in aged mice.
Yu J et al.
Molecular Neurodegeneration, 2018
Behavioral defects in a DCTN1G71A transgenic mouse model of Perry syndrome.
Mishima T et al.
Neuroscience Letters, 2018
Perry Syndrome: A Distinctive Type of TDP-43 Proteinopathy.
Mishima T et al.
Journal of Neuropathology and Experimental Neurology, 2017
DCTN1-related neurodegeneration: Perry syndrome and beyond.
Konno T et al.
Parkinsonism & Related Disorders, 2017
Reduced TDP-43 Expression Improves Neuronal Activities in a Drosophila Model of Perry Syndrome.
Hosaka Y et al.
Ebiomedicine, 2017
Autophagy Dysregulation in ALS: When Protein Aggregates Get Out of Hand.
Ramesh N et al.
Frontiers in Molecular Neuroscience, 2017
Protein folding alterations in amyotrophic lateral sclerosis.
Parakh S et al.
Brain Research, 2016