NovelTFGmutation causes autosomal-dominant spastic paraplegia and defects in autophagy
Published 2023 View Full Article
- Home
- Publications
- Publication Search
- Publication Details
Title
NovelTFGmutation causes autosomal-dominant spastic paraplegia and defects in autophagy
Authors
Keywords
-
Journal
JOURNAL OF MEDICAL GENETICS
Volume -, Issue -, Pages jmg-2023-109485
Publisher
BMJ
Online
2023-10-28
DOI
10.1136/jmg-2023-109485
References
Ask authors/readers for more resources
Related references
Note: Only part of the references are listed.- Expanding the TDP-43 Proteinopathy Pathway From Neurons to Muscle: Physiological and Pathophysiological Functions
- (2022) Lauren Versluys et al. Frontiers in Neuroscience
- Involvement of neuronal and muscular Trk-fused gene (TFG) defects in the development of neurodegenerative diseases
- (2022) Takeshi Yamamotoya et al. Scientific Reports
- TFG mutation induces haploinsufficiency and drives axonal Charcot–Marie–Tooth disease by causing neurite degeneration
- (2022) Xihui Chen et al. CNS Neuroscience & Therapeutics
- TFG regulates secretory and endosomal sorting pathways in neurons to promote their activity and maintenance
- (2022) Jennifer L. Peotter et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- TFG binds LC3C to regulate ULK1 localization and autophagosome formation
- (2021) Marianna Carinci et al. EMBO JOURNAL
- A Novel TFG Mutation in a Korean Family with α‐Synucleinopathy and Amyotrophic Lateral Sclerosis
- (2021) Dallah Yoo et al. MOVEMENT DISORDERS
- Presence of colocalised phosphorylated TDP-43 and TFG proteins in the frontotemporal lobes of HMSN-P
- (2020) Kengo Maeda et al. JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY
- COPII‐mediated trafficking at the ER/ERGIC interface
- (2019) Jennifer Peotter et al. TRAFFIC
- Muscle pathology of hereditary motor and sensory neuropathy with proximal dominant involvement with TFG mutation
- (2019) Satoshi Yamashita et al. MUSCLE & NERVE
- TFG : At the crossroads of motor neuron disease and myopathy
- (2019) Stefan Nicolau et al. MUSCLE & NERVE
- Phosphorylated TDP-43 aggregates in skeletal and cardiac muscle are a marker of myogenic degeneration in amyotrophic lateral sclerosis and various conditions
- (2019) Fumiaki Mori et al. Acta Neuropathologica Communications
- R106C TFG variant causes infantile neuroaxonal dystrophy “plus” syndrome
- (2018) A. Catania et al. NEUROGENETICS
- Phosphorylated TDP-43 (pTDP-43) aggregates in the axial skeletal muscle of patients with sporadic and familial amyotrophic lateral sclerosis
- (2018) Matthew D. Cykowski et al. Acta Neuropathologica Communications
- Pathogenic TFG Mutations Underlying Hereditary Spastic Paraplegia Impair Secretory Protein Trafficking and Axon Fasciculation
- (2018) Erin L. Slosarek et al. Cell Reports
- TFG facilitates outer coat disassembly on COPII transport carriers to promote tethering and fusion with ER–Golgi intermediate compartments
- (2017) Michael G. Hanna et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Proteasome impairment in neural cells derived from HMSN-P patient iPSCs
- (2017) Nagahisa Murakami et al. Molecular Brain
- Novel Genetic, Clinical, and Pathomechanistic Insights into TFG-Associated Hereditary Spastic Paraplegia
- (2016) Gaurav V. Harlalka et al. HUMAN MUTATION
- TFG-Related Neurologic Disorders: New Insights Into Relationships Between Endoplasmic Reticulum and Neurodegeneration
- (2016) Takuya Yagi et al. JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY
- TFG clusters COPII-coated transport carriers and promotes early secretory pathway organization
- (2015) A. Johnson et al. EMBO JOURNAL
- HMSN-P caused by p.Pro285Leu mutation in TFG is not confined to patients with Far East ancestry
- (2015) Afagh Alavi et al. NEUROBIOLOGY OF AGING
- Evidence of TRK-Fused Gene (TFG1) function in the ubiquitin–proteasome system
- (2014) Takuya Yagi et al. NEUROBIOLOGY OF DISEASE
- A novel TFG mutation causes Charcot-Marie-Tooth disease type 2 and impairs TFG function
- (2014) P.-C. Tsai et al. NEUROLOGY
- Inhibition of TFG function causes hereditary axon degeneration by impairing endoplasmic reticulum structure
- (2013) C. Beetz et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- The TRK-Fused Gene Is Mutated in Hereditary Motor and Sensory Neuropathy with Proximal Dominant Involvement
- (2012) Hiroyuki Ishiura et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Expression and Localization of TRK-Fused Gene Products in the Rat Brain and Retina
- (2011) Hisae Maebayashi et al. ACTA HISTOCHEMICA ET CYTOCHEMICA
- TFG-1 function in protein secretion and oncogenesis
- (2011) Kristen Witte et al. NATURE CELL BIOLOGY
- In sporadic inclusion body myositis muscle fibres TDP-43-positive inclusions are less frequent and robust than p62 inclusions, and are not associated with paired helical filaments
- (2010) C. D'Agostino et al. NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY
- TDP-43 accumulation in inclusion body myopathy muscle suggests a common pathogenic mechanism with frontotemporal dementia
- (2008) C C Weihl et al. JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY
Discover Peeref hubs
Discuss science. Find collaborators. Network.
Join a conversationAsk a Question. Answer a Question.
Quickly pose questions to the entire community. Debate answers and get clarity on the most important issues facing researchers.
Get Started