Associated Papers
Haplotype editing with CRISPR-Cas9 as a therapeutic approach for dominant-negative missense mutations in NEFL.
Dua PH et al.
Molecular Therapy : the Journal of the American Society of Gene Therapy, 2025
O-GlcNAcylation regulates neurofilament-light assembly and function and is perturbed by Charcot-Marie-Tooth disease mutations.
Huynh DT et al.
Nature Communications, 2023
Effect of Neurodegenerative Mutations in the NEFL Gene on Thermal Denaturation of the Neurofilament Light Chain Protein.
Nefedova VV et al.
Biochemistry. Biokhimiia, 2023
Neurofilaments in health and Charcot-Marie-Tooth disease.
Kotaich F et al.
Frontiers in Cell and Developmental Biology, 2023
The 2022 Lady Estelle Wolfson lectureship on neurofilaments.
Petzold A
Journal of Neurochemistry, 2022
Are transient protein-protein interactions more dispensable?
Ghadie MA et al.
Plos Computational Biology, 2022
35404956 (PubMed )
Supplement: pcbi.1010013.s002.xlsx › _B__Y2H-SI_disMut_edgotypes
Mutation Edgotype Drives Fitness Effect in Human.
Ghadie M et al.
Frontiers in Bioinformatics, 2021
36303776 (PubMed )
Supplement: Table2.XLSX › _B__Y2H-SI_pathMt_edgotype
Estimating dispensable content in the human interactome.
Ghadie M et al.
Nature Communications, 2019
31324802 (PubMed )
Supplement: 41467_2019_11180_MOESM6_ESM.xlsx › _B__Y2H-SI_disease_mut
Charcot-Marie-Tooth disease Type 2E/1F mutant neurofilament proteins assemble into neurofilaments.
Stone EJ et al.
Cytoskeleton (hoboken, N.j.), 2019
Absence of NEFL in patient-specific neurons in early-onset Charcot-Marie-Tooth neuropathy.
Sainio MT et al.
Neurology. Genetics, 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
Genetic and clinical characteristics of NEFL-related Charcot-Marie-Tooth disease.
Horga A et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2017
Underestimated associated features in CMT neuropathies: clinical indicators for the causative gene?
Werheid F et al.
Brain and Behavior, 2016
Improved inherited peripheral neuropathy genetic diagnosis by whole-exome sequencing.
Drew AP et al.
Molecular Genetics & Genomic Medicine, 2015
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