Associated Papers
Hereditary Polyneuropathies in the Era of Precision Medicine: Genetic Complexity and Emerging Strategies.
Chrysostomaki M et al.
Genes, 2026
Advances and challenges in modeling Charcot-Marie-Tooth type 2A using iPSC-derived models.
Rizzuti M et al.
Stem Cell Reports, 2025
Frequent De Novo Mutations in Korean Patients With Charcot-Marie-Tooth Disease.
Lee AJ et al.
Journal of the Peripheral Nervous System : Jpns, 2025
Charcot-Marie-Tooth type 2A variants of mitofusin 2 sensitize cells to apoptotic cell death.
Joaquim M et al.
Journal of Cell Science, 2025
Modulating mitochondrial dynamics in CMT2A: a multifaceted platform for drug discovery and evaluation.
Liu Y et al.
Biophysics Reports, 2025
A cellular assay to determine the fusion capacity of MFN2 variants linked to Charcot-Marie-Tooth disease of type 2 A.
Barsa C et al.
Scientific Reports, 2025
[Genetic analysis of a Chinese pedigree affected with Charcot-Marie-Tooth type 2A2A due to a missense variant of MFN2 gene].
Han Y et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2025
Delineating the genetic landscape of Charcot-Marie-tooth disease in Türkiye: Distinct distribution, rare phenotypes, and novel variants.
Cakar A et al.
European Journal of Neurology, 2025
Sensory-Motor Neuropathy in Mfn2 T105M Knock-in Mice and Its Reversal by a Novel Piperine-Derived Mitofusin Activator.
Weigele J et al.
The Journal of Pharmacology and Experimental Therapeutics, 2024
Mfn2R364W, Mfn2G176S, and Mfn2H165R mutations drive Charcot-Marie-Tooth type 2A disease by inducing apoptosis and mitochondrial oxidative phosphorylation damage.
Zhang Y et al.
International Journal of Biological Macromolecules, 2024
Current Treatment Methods for Charcot-Marie-Tooth Diseases.
Dong H et al.
Biomolecules, 2024
Next-generation sequencing in Charcot-Marie-Tooth: a proposal for improvement of ACMG guidelines for variant evaluation.
Geroldi A et al.
Journal of Medical Genetics, 2024
Targeting muscle to treat Charcot-Marie-Tooth disease.
Villarroel-Campos D et al.
Neural Regeneration Research, 2024
MFN2 coordinates mitochondria motility with α-tubulin acetylation and this regulation is disrupted in CMT2A.
Kumar A et al.
Iscience, 2024
Charcot-Marie-Tooth type 2A in vivo models: Current updates.
Abati E et al.
Journal of Cellular and Molecular Medicine, 2024
Charcot-Marie-tooth disease type 2A: An update on pathogenesis and therapeutic perspectives.
Alberti C et al.
Neurobiology of Disease, 2024
Genetic diversity in hereditary axonal neuropathy: Analyzing 53 Brazilian children.
Figueiredo FB et al.
Journal of the Peripheral Nervous System : Jpns, 2024
Mitofusin 2 Variant Presenting With a Phenotype of Multiple System Atrophy of Cerebellar Subtype.
Elbert A et al.
Neurology. Genetics, 2024
A case report of peroneal muscle atrophy type 2A2 with central nervous system involvement as initial presentation.
Xu X et al.
Bmc Pediatrics, 2024
A human mitofusin 2 mutation can cause mitophagic cardiomyopathy.
Franco A et al.
Elife, 2023
An integrative analysis of genotype-phenotype correlation in Charcot Marie Tooth type 2A disease with MFN2 variants: A case and systematic review.
Zhang Y et al.
Gene, 2023
Charcot-Marie-Tooth disease: from historical landmarks in Brazil to current care perspectives.
Cavalcanti EBU et al.
Arquivos De Neuro-psiquiatria, 2023
The Current State of Charcot-Marie-Tooth Disease Treatment.
Okamoto Y et al.
Genes, 2023
Small molecule agonist of mitochondrial fusion repairs mitochondrial dysfunction.
Guo Y et al.
Nature Chemical Biology, 2023
MFN2-dependent recruitment of ATAT1 coordinates mitochondria motility with alpha-tubulin acetylation and is disrupted in CMT2A.
Kumar A et al.
Biorxiv : the Preprint Server for Biology, 2023
Mitochondria Clumping vs. Mitochondria Fusion in CMT2A Diseases.
Franco A et al.
Life (basel, Switzerland), 2022
A mitofusin 2/HIF1α axis sets a maturation checkpoint in regenerating skeletal muscle.
Wang X et al.
The Journal of Clinical Investigation, 2022
Not young but still immature: a HIF-1α-mediated maturation checkpoint in regenerating muscle.
Salekeen R et al.
The Journal of Clinical Investigation, 2022
Mitochondrial Dysfunction and Pharmacodynamics of Mitofusin Activation in Murine Charcot-Marie-Tooth Disease Type 2A.
Franco A et al.
The Journal of Pharmacology and Experimental Therapeutics, 2022
Mitochondrial Fission and Fusion: Molecular Mechanisms, Biological Functions, and Related Disorders.
Al Ojaimi M et al.
Membranes, 2022
Are transient protein-protein interactions more dispensable?
Ghadie MA et al.
Plos Computational Biology, 2022
Mitochondrial Phenotypes in Genetically Diverse Neurodegenerative Diseases and Their Response to Mitofusin Activation.
Dang X et al.
Cells, 2022
MITOL-mediated DRP1 ubiquitylation and degradation promotes mitochondrial hyperfusion in a CMT2A-linked MFN2 mutant.
Das R et al.
Journal of Cell Science, 2022
MFN2-related Charcot-Marie-Tooth Disease with Atypical Ocular Manifestations.
Nan H et al.
Internal Medicine (tokyo, Japan), 2021
Axonal Charcot-Marie-Tooth Disease: from Common Pathogenic Mechanisms to Emerging Treatment Opportunities.
McCray BA et al.
Neurotherapeutics : the Journal of the American Society for Experimental Neurotherapeutics, 2021
Mitochondrial function in development and disease.
Rossmann MP et al.
Disease Models & Mechanisms, 2021
The Complex Clinical and Genetic Landscape of Hereditary Peripheral Neuropathy.
Ghosh S et al.
Annual Review of Pathology, 2021
The Pathological Features of Common Hereditary Mitochondrial Dynamics Neuropathy.
Wu R et al.
Frontiers in Neuroscience, 2021
Mutation Edgotype Drives Fitness Effect in Human.
Ghadie M et al.
Frontiers in Bioinformatics, 2021
Natural history of Charcot-Marie-Tooth disease type 2A: a large international multicentre study.
Pipis M et al.
Brain : a Journal of Neurology, 2020
Animal Models of CMT2A: State-of-art and Therapeutic Implications.
De Gioia R et al.
Molecular Neurobiology, 2020
Burst mitofusin activation reverses neuromuscular dysfunction in murine CMT2A.
Franco A et al.
Elife, 2020
Recent Advances in Drosophila Models of Charcot-Marie-Tooth Disease.
Kitani-Morii F et al.
International Journal of Molecular Sciences, 2020
Discovery of 6-Phenylhexanamide Derivatives as Potent Stereoselective Mitofusin Activators for the Treatment of Mitochondrial Diseases.
Dang X et al.
Journal of Medicinal Chemistry, 2020
Early-onset cerebellar ataxia in a patient with CMT2A2.
Madrid R et al.
Cold Spring Harbor Molecular Case Studies, 2020
Disruption of genes associated with Charcot-Marie-Tooth type 2 lead to common behavioural, cellular and molecular defects in Caenorhabditis elegans.
Soh MS et al.
Plos One, 2020