Associated Papers
TFG p.G269V Mutation Disrupts Motor Neuron Function in iPSC-Derived Models via Wnt Signaling Dysregulation.
Mu Z et al.
Journal of Neurochemistry, 2026
Genetic and structural aspects of amyloid diseases.
Rosenberg GM et al.
Science Translational Medicine, 2025
Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses.
Laurie S et al.
Nature Medicine, 2025
Cell type-specific gene therapy confers protection against motor neuron disease caused by a TFG variant.
Lettman MM et al.
Proceedings of the National Academy of Sciences of the United States of America, 2024
Multiple roles for TFG ring complexes in neuronal cargo trafficking.
Zhang Z et al.
Biorxiv : the Preprint Server for Biology, 2024
Characterization of a novel TFG variant causing autosomal recessive pure hereditary spastic paraplegia.
Hsiao CT et al.
Annals of Clinical and Translational Neurology, 2024
Hereditary motor sensory neuropathy with proximal involvement (HMSN-P) associated with TFG p.Pro285Leu variant in an Italian family with a motor neuron disease-like clinical picture.
Cabras S et al.
Muscle & Nerve, 2024
Novel TFG mutation causes autosomal-dominant spastic paraplegia and defects in autophagy.
Xu L et al.
Journal of Medical Genetics, 2024
Pluripotent Stem Cells as a Preclinical Cellular Model for Studying Hereditary Spastic Paraplegias.
Damiani D et al.
International Journal of Molecular Sciences, 2024
Fibril structures of TFG protein mutants validate the identification of TFG as a disease-related amyloid protein by the IMPAcT method.
Rosenberg GM et al.
Pnas Nexus, 2023
Clinical genetics of Charcot-Marie-Tooth disease.
Higuchi Y et al.
Journal of Human Genetics, 2023
TFG mutation induces haploinsufficiency and drives axonal Charcot-Marie-Tooth disease by causing neurite degeneration.
Chen X et al.
Cns Neuroscience & Therapeutics, 2022
Bioinformatic identification of previously unrecognized amyloidogenic proteins.
Rosenberg GM et al.
The Journal of Biological Chemistry, 2022
A Novel TFG Mutation in a Korean Family with α-Synucleinopathy and Amyotrophic Lateral Sclerosis.
Yoo D et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2022
Homozygous TFG gene variants expanding the mutational and clinical spectrum of hereditary spastic paraplegia 57 and a review of literature.
Khorrami M et al.
Journal of Human Genetics, 2021
TFG binds LC3C to regulate ULK1 localization and autophagosome formation.
Carinci M et al.
The Embo Journal, 2021
Intronic variant in IQGAP3 associated with hereditary neuropathy with proximal lower dominancy, urinary disturbance, and paroxysmal dry cough.
Miura S et al.
Journal of Human Genetics, 2020
A novel TFG c.793C>G mutation in a Chinese pedigree with Charcot-Marie-Tooth disease 2.
Wu DW et al.
Brain and Behavior, 2020
Inherited motor-sensory neuropathy with upper limb predominance associated with the tropomyosin-receptor kinase fused gene.
Fabrizi GM et al.
Neuromuscular Disorders : Nmd, 2020
Continuum of phenotypes in hereditary motor and sensory neuropathy with proximal predominance and Charcot-Marie-Tooth patients with TFG mutation.
Khani M et al.
American Journal of Medical Genetics. Part A, 2019
Sural nerve pathology in TFG-associated motor neuron disease with sensory neuropathy.
Li J et al.
Neuropathology : Official Journal of the Japanese Society of Neuropathology, 2019
Mutation spectrum of Charcot-Marie-Tooth disease among the Han Chinese in Taiwan.
Hsu YH et al.
Annals of Clinical and Translational Neurology, 2019
A novel homozygous mutation of the TFG gene in a patient with early onset spastic paraplegia and later onset sensorimotor polyneuropathy.
Miyabayashi T et al.
Journal of Human Genetics, 2019
The natural history of hereditary motor and sensory neuropathy with proximal dominant involvement (HMSN-P) in 97 Japanese patients.
Fujisaki N et al.
Intractable & Rare Diseases Research, 2018
T118M Variant of PMP22 Gene Presents with Painful Peripheral Neuropathy and Varying Charcot-Marie-Tooth Features: A Case Series and Review of the Literature.
Ho KWD et al.
Case Reports in Genetics, 2018
TFG associated hereditary spastic paraplegia: an addition to the phenotypic spectrum.
Tariq H et al.
Neurogenetics, 2017
Proteasome impairment in neural cells derived from HMSN-P patient iPSCs.
Murakami N et al.
Molecular Brain, 2017
Novel Genetic, Clinical, and Pathomechanistic Insights into TFG-Associated Hereditary Spastic Paraplegia.
Harlalka GV et al.
Human Mutation, 2016
Identification of novel TFG mutation in HMSN-P pedigree: Emphasis on variable clinical presentations.
Khani M et al.
Journal of the Neurological Sciences, 2016
TFG-Related Neurologic Disorders: New Insights Into Relationships Between Endoplasmic Reticulum and Neurodegeneration.
Yagi T et al.
Journal of Neuropathology and Experimental Neurology, 2016
[Two cases of hereditary motor and sensory neuropathy with proximal dominant involvement (HMSN-P)].
Mori C et al.
Rinsho Shinkeigaku = Clinical Neurology, 2015
A novel TFG mutation causes Charcot-Marie-Tooth disease type 2 and impairs TFG function.
Tsai PC et al.
Neurology, 2014