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
Germline predisposition in multiple myeloma.
Martins Rodrigues F et al.
Iscience, 2025
NMPhenogen: a comprehensive database for genotype-phenotype correlation in neuromuscular genetic disorders.
Manjunath U et al.
Frontiers in Neuroscience, 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
Proteome-scale characterisation of motif-based interactome rewiring by disease mutations.
Kliche J et al.
Molecular Systems Biology, 2024
ALS Identified: two-year findings from a sponsored ALS genetic testing program.
Goutman SA et al.
Annals of Clinical and Translational Neurology, 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 and sensory neuropathy Okinawa type mimicking proximal myopathy.
Braga VL et al.
Clinical Neurology and Neurosurgery, 2024
Novel TFG mutation causes autosomal-dominant spastic paraplegia and defects in autophagy.
Xu L et al.
Journal of Medical Genetics, 2024
A Retrospective Review of 18 Patients With Childhood-Onset Hereditary Spastic Paraplegia, Nine With Novel Variants.
Kilic MA et al.
Pediatric Neurology, 2024
Pluripotent Stem Cells as a Preclinical Cellular Model for Studying Hereditary Spastic Paraplegias.
Damiani D et al.
International Journal of Molecular Sciences, 2024
Hereditary spastic paraplegia: Novel insights into the pathogenesis and management.
Awuah WA et al.
Sage Open Medicine, 2024
TFG mutation induces haploinsufficiency and drives axonal Charcot-Marie-Tooth disease by causing neurite degeneration.
Chen X et al.
Cns Neuroscience & Therapeutics, 2022
TFG regulates secretory and endosomal sorting pathways in neurons to promote their activity and maintenance.
Peotter JL et al.
Proceedings of the National Academy of Sciences of the United States of America, 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
Autozygosity-driven genetic diagnosis in consanguineous families from Italy and the Greater Middle East.
Palombo F et al.
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
ER-to-Golgi Trafficking and Its Implication in Neurological Diseases.
Wang B et al.
Cells, 2020
COPII-mediated trafficking at the ER/ERGIC interface.
Peotter J et al.
Traffic (copenhagen, Denmark), 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
Autozygome and high throughput confirmation of disease genes candidacy.
Maddirevula S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 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
Genomic screening in rare disorders: New mutations and phenotypes, highlighting ALG14 as a novel cause of severe intellectual disability.
Kvarnung M et al.
Clinical Genetics, 2018
Pathogenic TFG Mutations Underlying Hereditary Spastic Paraplegia Impair Secretory Protein Trafficking and Axon Fasciculation.
Slosarek EL et al.
Cell Reports, 2018
R106C TFG variant causes infantile neuroaxonal dystrophy "plus" syndrome.
Catania A et al.
Neurogenetics, 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
Hereditary spastic paraplegias: identification of a novel SPG57 variant affecting TFG oligomerization and description of HSP subtypes in Sudan.
Elsayed LEO et al.
European Journal of Human Genetics : Ejhg, 2016
HMSN-P caused by p.Pro285Leu mutation in TFG is not confined to patients with Far East ancestry.
Alavi A et al.
Neurobiology of Aging, 2015
[Two cases of hereditary motor and sensory neuropathy with proximal dominant involvement (HMSN-P)].
Mori C et al.
Rinsho Shinkeigaku = Clinical Neurology, 2015
Evidence of TRK-Fused Gene (TFG1) function in the ubiquitin-proteasome system.
Yagi T et al.
Neurobiology of Disease, 2014
Inhibition of TFG function causes hereditary axon degeneration by impairing endoplasmic reticulum structure.
Beetz C et al.
Proceedings of the National Academy of Sciences of the United States of America, 2013
[Pathomechanisms of motor neuron death by mutant TFG].
Kawarai T et al.
Rinsho Shinkeigaku = Clinical Neurology, 2013