Associated Papers
Genetic analysis and natural history of Charcot-Marie-Tooth disease CMTX1 due to GJB1 variants.
Record CJ et al.
Brain : a Journal of Neurology, 2023
Proteostasis plays an important role in demyelinating Charcot Marie Tooth disease.
Libberecht K et al.
Biochemical Pharmacology, 2023
Structures of wild-type and selected CMT1X mutant connexin 32 gap junction channels and hemichannels.
Qi C et al.
Science Advances, 2023
Are transient protein-protein interactions more dispensable?
Ghadie MA et al.
Plos Computational Biology, 2022
Systematic review of CMTX1 patients with episodic neurological dysfunction.
Tian D et al.
Annals of Clinical and Translational Neurology, 2021
Mutation Edgotype Drives Fitness Effect in Human.
Ghadie M et al.
Frontiers in Bioinformatics, 2021
Regulation of gap junction intercellular communication by connexin ubiquitination: physiological and pathophysiological implications.
Totland MZ et al.
Cellular and Molecular Life Sciences : Cmls, 2020
Recurrent Stroke-Like Symptoms After Cesarean Section Deliveries in a Female Patient With X-Linked Charcot-Marie-Tooth Type 1.
Li Q et al.
Frontiers in Neurology, 2020
Genetic spectrum and clinical profiles in a southeast Chinese cohort of Charcot-Marie-Tooth disease.
Chen CX et al.
Clinical Genetics, 2019
A Chinese pedigree with a novel mutation in GJB1 gene and a rare variation in DHTKD1 gene for diverse Charcot‑Marie‑Tooth diseases.
Zhao ZH et al.
Molecular Medicine Reports, 2019
Genetic and phenotypic profile of 112 patients with X-linked Charcot-Marie-Tooth disease type 1.
Yuan JH et al.
European Journal of Neurology, 2018
Coexistence of Amyotrophic Lateral Sclerosis in the Proband of an X-Linked Charcot-Marie-Tooth Disease Type 1 Pedigree in China.
Feng SY et al.
Journal of Clinical Neurology (seoul, Korea), 2018
What's the Function of Connexin 32 in the Peripheral Nervous System?
Bortolozzi M
Frontiers in Molecular Neuroscience, 2018
Frequent genes in rare diseases: panel-based next generation sequencing to disclose causal mutations in hereditary neuropathies.
Dohrn MF et al.
Journal of Neurochemistry, 2017
Clinical characterization and genetic analysis of Korean patients with X-linked Charcot-Marie-Tooth disease type 1.
Hong YB et al.
Journal of the Peripheral Nervous System : Jpns, 2017
Mosaicism for a pathogenic MFN2 mutation causes minimal clinical features of CMT2A in the parent of a severely affected child.
Schon K et al.
Neurogenetics, 2017
Aberrant trafficking of a Leu89Pro connexin32 mutant associated with X-linked dominant Charcot-Marie-Tooth disease.
Da Y et al.
Neurological Research, 2016
Improving diagnosis of inherited peripheral neuropathies through gene panel analysis.
Laššuthová P et al.
Orphanet Journal of Rare Diseases, 2016
Connexinopathies: a structural and functional glimpse.
García IE et al.
Bmc Cell Biology, 2016
Clinical and genetic spectra in a series of Chinese patients with Charcot-Marie-Tooth disease.
Wang R et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2015
A start codon CMT1X mutation associated with transient encephalomyelitis causes complete loss of Cx32.
Sargiannidou I et al.
Neurogenetics, 2015
Regulation of connexin hemichannel activity by membrane potential and the extracellular calcium in health and disease.
Fasciani I et al.
Neuropharmacology, 2013
Phenotype expression in women with CMT1X.
Siskind CE et al.
Journal of the Peripheral Nervous System : Jpns, 2011
Regulation of lens gap junctions by Transforming Growth Factor beta.
Boswell BA et al.
Molecular Biology of the Cell, 2010
EKV mutant connexin 31 associated cell death is mediated by ER stress.
Tattersall D et al.
Human Molecular Genetics, 2009
[The same mutation Glu208Lys in the GJB1 gene was detected in 2 families with X-linked Charcot-Marie-Tooth disease].
Song SJ et al.
Yi Chuan = Hereditas, 2007
Mutation frequency for Charcot-Marie-Tooth disease type 1 in the Chinese population is similar to that in the global ethnic patients.
Song S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2006
No mutation was detected in the LMNA gene among sporadic Charcot-Marie-Tooth patients.
Song SJ et al.
Beijing Da Xue Xue Bao. Yi Xue Ban = Journal of Peking University. Health Sciences, 2006
Defining a minimal motif required to prevent connexin oligomerization in the endoplasmic reticulum.
Maza J et al.
The Journal of Biological Chemistry, 2005
Functional analysis of connexin-32 mutants associated with X-linked dominant Charcot-Marie-Tooth disease.
Wang HL et al.
Neurobiology of Disease, 2004
Cellular mechanisms of connexin32 mutations associated with CNS manifestations.
Kleopa KA et al.
Journal of Neuroscience Research, 2002
A novel connexin 32 missense mutation (E208G) causing Charcot-Marie-Tooth disease.
Kochanski A et al.
Human Mutation, 2001
Regulation of connexin degradation as a mechanism to increase gap junction assembly and function.
Musil LS et al.
The Journal of Biological Chemistry, 2000
Intracellular transport, assembly, and degradation of wild-type and disease-linked mutant gap junction proteins.
VanSlyke JK et al.
Molecular Biology of the Cell, 2000
Analysis of gap junction assembly using mutated connexins detected in Charcot-Marie-Tooth X-linked disease.
Martin PE et al.
Journal of Neurochemistry, 2000
Altered Assembly of Gap Junction Channels Caused by COOH-Terminal Connexin32 Mutants of CMTX.
Barrio LC et al.
Annals of the New York Academy of Sciences, 1999
Altered assembly of gap junction channels caused by COOH-terminal connexin32 mutants of CMTX.
Barrio LC et al.
Annals of the New York Academy of Sciences, 1999
Altered formation of hemichannels and gap junction channels caused by C-terminal connexin-32 mutations.
Castro C et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 1999
Common themes in peripheral neuropathy disease genes.
Snipes GJ et al.
Cell Biology International, 1998
Connexin32 mutations associated with X-linked Charcot-Marie-Tooth disease show two distinct behaviors: loss of function and altered gating properties.
Ressot C et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 1998
Altered trafficking of mutant connexin32.
Deschênes SM et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 1997
Connexin32 and X-linked Charcot-Marie-Tooth disease.
Bone LJ et al.
Neurobiology of Disease, 1997
[Charcot-Marie-Tooth disease].
Hausmanowa-Petrusewicz I et al.
Rozprawy Wydzialu Nauk Medycznych, 1966