Associated Papers
Impaired PARP1-Dependent DNA Repair in MORC2 Mutations Drives Axonal Degeneration in Charcot-Marie-Tooth Disease Subtype 2Z and Spinal Muscular Atrophy-Like Neuromotor disorders.
Wang M et al.
Pharmacological Research, 2026
Pleiotropic effects of MORC2 derive from its epigenetic signature.
Peymani F et al.
Brain : a Journal of Neurology, 2026
Clinical and Genetic Variant Profile of Asian Charcot-Marie Tooth Patients: A Systematic Review.
Kavoosi S et al.
Iranian Journal of Public Health, 2025
Estradiol rescues male hydroxyl radical-mediated Charcot-Marie-Tooth 2Z by Morc2a stabilization through autophagy inhibition in a murine model.
Kim JW et al.
Acta Neuropathologica, 2025
MORC2 is a phosphorylation-dependent DNA compaction machine.
Tan W et al.
Nature Communications, 2025
Identification and characterization of a human MORC2 DNA binding region that is required for gene silencing.
Fendler NL et al.
Nucleic Acids Research, 2025
Biological functions and molecular mechanisms of MORC2 in human diseases.
Zhao X et al.
Molecules and Cells, 2025
Resolving unsolved whole-genome sequencing data in paediatric neurological disorders: a cohort study.
Chi CS et al.
Archives of Disease in Childhood, 2024
Intermediate phenotype between CMT2Z and DIGFAN associated with a novel MORC2 variant: a case report.
Hanada K et al.
Human Genome Variation, 2024
MORC2 phosphorylation fine tunes its DNA compaction activity.
Tan W et al.
Biorxiv : the Preprint Server for Biology, 2024
Identification and characterization of a human MORC2 DNA binding region that is required for gene silencing.
Fendler NL et al.
Biorxiv : the Preprint Server for Biology, 2024
Morc2a variants cause hydroxyl radical-mediated neuropathy and are rescued by restoring GHKL ATPase.
Chung HY et al.
Brain : a Journal of Neurology, 2024
Genomics 2 Proteins portal: A resource and discovery tool for linking genetic screening outputs to protein sequences and structures.
Kwon S et al.
Biorxiv : the Preprint Server for Biology, 2024
The MORC2 p.S87L mutation reduces proliferation of pluripotent stem cells derived from a patient with the spinal muscular atrophy-like phenotype by inhibiting proliferation-related signaling pathways.
Zeng S et al.
Neural Regeneration Research, 2024
A Novel Heterozygous De Novo MORC2 Missense Variant Causes an Early Onset and Severe Neurodevelopmental Disorder.
Arbide D et al.
Case Reports in Genetics, 2024
Case Report: Charcot-marie-tooth disease caused by a de novo MORC2 gene mutation - novel insights into pathogenicity and treatment.
Zhu F et al.
Frontiers in Genetics, 2024
The Spectrum of MORC2-Related Disorders: A Potential Link to Cockayne Syndrome.
Stafki SA et al.
Pediatric Neurology, 2023
Expanding the phenotypic variability of MORC2 gene mutations: From Charcot-Marie-Tooth disease to late-onset pure motor neuropathy.
Jacquier A et al.
Human Mutation, 2022
The HUSH complex controls brain architecture and protocadherin fidelity.
Hagelkruys A et al.
Science Advances, 2022
A Cockayne-like phenotype resulting from a de novo variant in MORC2: expanding the phenotype of MORC2-related disorders.
Mirchi A et al.
Neurogenetics, 2022
Diverse Molecular Mechanisms Underlying Pathogenic Protein Mutations: Beyond the Loss-of-Function Paradigm.
Backwell L et al.
Annual Review of Genomics and Human Genetics, 2022
Microrchidia CW-Type Zinc Finger 2, a Chromatin Modifier in a Spectrum of Peripheral Neuropathies.
Jacquier A et al.
Frontiers in Cellular Neuroscience, 2022
Morc2a p.S87L mutant mice develop peripheral and central neuropathies associated with neuronal DNA damage and apoptosis.
Lee GS et al.
Disease Models & Mechanisms, 2021
MORC2 gene de novo mutation leads to Charcot-Marie-Tooth disease type 2Z: A pediatric case report and literature review.
Yang H et al.
Medicine, 2021
Charcot-Marie-Tooth disease due to MORC2 mutations in Spain.
Sivera R et al.
European Journal of Neurology, 2021
A recurrent MORC2 mutation causes Charcot-Marie-Tooth disease type 2Z.
Vujovic D et al.
Journal of the Peripheral Nervous System : Jpns, 2021
Characterization of genotype-phenotype correlation with MORC2 mutated Axonal Charcot-Marie-Tooth disease in a cohort of Chinese patients.
Duan X et al.
Orphanet Journal of Rare Diseases, 2021
[A case of Charcot-Marie-Tooth disease type 2Z caused by MORC2 S87L mutation mimicking spinal muscular atrophy].
Yamamoto D et al.
Rinsho Shinkeigaku = Clinical Neurology, 2021
Whole-exome mutational landscape of neuroendocrine carcinomas of the gallbladder.
Liu F et al.
Signal Transduction and Targeted Therapy, 2021
Characterization of molecular mechanisms underlying the axonal Charcot-Marie-Tooth neuropathy caused by MORC2 mutations.
Sancho P et al.
Human Molecular Genetics, 2019
Neuropathic MORC2 mutations perturb GHKL ATPase dimerization dynamics and epigenetic silencing by multiple structural mechanisms.
Douse CH et al.
Nature Communications, 2018
Hyperactivation of HUSH complex function by Charcot-Marie-Tooth disease mutation in MORC2.
Tchasovnikarova IA et al.
Nature Genetics, 2017
De novo p.T362R mutation in MORC2 causes early onset cerebellar ataxia, axonal polyneuropathy and nocturnal hypoventilation.
Zanni G et al.
Brain : a Journal of Neurology, 2017
MORC2 mutation causes severe spinal muscular atrophy-phenotype, cerebellar atrophy, and diaphragmatic paralysis.
Schottmann G et al.
Brain : a Journal of Neurology, 2016
MORC2 mutations in a cohort of Chinese patients with Charcot-Marie-Tooth disease type 2.
Zhao X et al.
Brain : a Journal of Neurology, 2016
Mutations in the MORC2 gene cause axonal Charcot-Marie-Tooth disease.
Sevilla T et al.
Brain : a Journal of Neurology, 2016
[Autopsy case of Charcot-Marie-Tooth disease with optic nerve atrophy and degeneration of the spinal tract. A family with muscular atrophy, ataxia, retinal degeneration and diabetes mellitus].
Oguchi K et al.
Rinsho Shinkeigaku = Clinical Neurology, 1977