Associated Papers
Hereditary Polyneuropathies in the Era of Precision Medicine: Genetic Complexity and Emerging Strategies.
Chrysostomaki M et al.
Genes, 2026
Nationwide Characterization of MFN2-Related CMT in 176 Japanese Patients: Clinical and Genetic Insights.
Ando M et al.
Annals of Clinical and Translational Neurology, 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
Genetic spectrum among 2009 Iranian individuals with neuromuscular disorders using next generation sequencing and multiple ligation dependent probe amplification methods.
Molaei N et al.
Scientific Reports, 2025
PMP22-Related Neuropathies: A Systematic Review.
Cesaroni CA et al.
Genes, 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
Pathogenic morphological signatures of perturbations in mitochondrial-related genes revealed by pooled imaging assay.
Kremitzki C et al.
Npj Imaging, 2025
Modulating mitochondrial dynamics in CMT2A: a multifaceted platform for drug discovery and evaluation.
Liu Y et al.
Biophysics Reports, 2025
Mitochondrial fusion controls the development of specialized mitochondrial structure and metabolism in rod photoreceptor cells.
Landowski M et al.
Biorxiv : the Preprint Server for Biology, 2025
Genotype-phenotype characteristics of Chinese Charcot-Marie-Tooth disease type 2A and related MRI features.
Xie Y et al.
Chinese Medical Journal, 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
Mitofusin 2 displays fusion-independent roles in proteostasis surveillance.
Joaquim M et al.
Nature Communications, 2025
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
Resolving unsolved whole-genome sequencing data in paediatric neurological disorders: a cohort study.
Chi CS et al.
Archives of Disease in Childhood, 2024
MFN2 coordinates mitochondria motility with α-tubulin acetylation and this regulation is disrupted in CMT2A.
Kumar A et al.
Iscience, 2024
Advances and challenges in modeling inherited peripheral neuropathies using iPSCs.
Van Lent J et al.
Experimental & Molecular Medicine, 2024
Early Onset Inherited Peripheral Neuropathies: The Experience of a Specialized Referral Center for Genetic Diagnosis Achievement.
Geroldi A et al.
Pediatric Neurology, 2024
Charcot-Marie-Tooth type 2A in vivo models: Current updates.
Abati E et al.
Journal of Cellular and Molecular Medicine, 2024
OPA1 mutation affects autophagy and triggers senescence in autosomal dominant optic atrophy plus fibroblasts.
Zanfardino P et al.
Human Molecular Genetics, 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
A case report of peroneal muscle atrophy type 2A2 with central nervous system involvement as initial presentation.
Xu X et al.
Bmc Pediatrics, 2024
Combined RNA interference and gene replacement therapy targeting MFN2 as proof of principle for the treatment of Charcot-Marie-Tooth type 2A.
Rizzo F et al.
Cellular and Molecular Life Sciences : Cmls, 2023
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
Mitofusin 1 overexpression rescues the abnormal mitochondrial dynamics caused by the Mitofusin 2 K357T mutation in vitro.
Stavropoulos F et al.
Journal of the Peripheral Nervous System : Jpns, 2023
Downregulation of PMP22 ameliorates myelin defects in iPSC-derived human organoid cultures of CMT1A.
Van Lent J et al.
Brain : a Journal of Neurology, 2023
The Current State of Charcot-Marie-Tooth Disease Treatment.
Okamoto Y et al.
Genes, 2023
Charcot-Marie-Tooth neuropathies: Current gene therapy advances and the route toward translation.
Stavrou M et al.
Journal of the Peripheral Nervous System : Jpns, 2023
The Role of Rab Proteins in Mitophagy: Insights into Neurodegenerative Diseases.
Shafique A et al.
International Journal of Molecular Sciences, 2023
MFN1 augmentation prevents retinal degeneration in a Charcot-Marie-Tooth type 2A mouse model.
Shahin S et al.
Iscience, 2023
Diverse CMT2 neuropathies are linked to aberrant G3BP interactions in stress granules.
Cui Q et al.
Cell, 2023
Mitofusin 2 mutation drives cell proliferation in Charcot-Marie-Tooth 2A fibroblasts.
Zanfardino P et al.
Human Molecular Genetics, 2023
A dominant negative mitofusin causes mitochondrial perinuclear clusters because of aberrant tethering.
Sloat SR et al.
Life Science Alliance, 2023
Prospect of genetic disorders in Saudi Arabia.
Alqahtani AS et al.
Frontiers in Genetics, 2023
Mitochondria Clumping vs. Mitochondria Fusion in CMT2A Diseases.
Franco A et al.
Life (basel, Switzerland), 2022
Pooled image-base screening of mitochondria with microraft isolation distinguishes pathogenic mitofusin 2 mutations.
Yenkin AL et al.
Communications Biology, 2022
Clinical and genetic features of a cohort of patients with MFN2-related neuropathy.
Abati E et al.
Scientific Reports, 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