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Article

Inhibition of TFG function causes hereditary axon degeneration by impairing endoplasmic reticulum structure.

Proceedings of the National Academy of Sciences of the United States of America - 26 Mar 2013

Beetz Christian, Johnson Adam, Schuh Amber L, Thakur Seema, Varga Rita-Eva, Fothergill Thomas, Hertel Nicole, Bomba-Warczak Ewa, Thiele Holger, Nürnberg Gudrun, Altmüller Janine, Saxena Renu, Chapman Edwin R, Dent Erik W, Nürnberg Peter, Audhya Anjon

Abstract excerpt

Hereditary spastic paraplegias are a clinically and genetically heterogeneous group of gait disorders. Their pathological hallmark is a length-dependent distal axonopathy of nerve fibers in the corticospinal tract. Involvement of other neurons can cause additional neurological symptoms, which def...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 23479643
DOI: 10.1073/pnas.1217197110
PMCID: PMC3612678

Genes

TFG

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-23479643-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

Related research

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Inhibition of TFG function causes hereditary axon degeneration by impairing endoplasmic reticulum structure.PMID 23479643Read ↗

Pathogenic TFG Mutations Underlying Hereditary Spastic Paraplegia Impair Secretory Protein Trafficking and Axon Fasciculation.Semantic proximity Read ↗

TFG-Related Neurologic Disorders: New Insights Into Relationships Between Endoplasmic Reticulum and Neurodegeneration.Semantic proximity Read ↗

Multiple roles for TFG ring complexes in neuronal cargo traffickingSemantic proximity Read ↗

A novel TFG mutation causes Charcot-Marie-Tooth disease type 2 and impairs TFG function.Semantic proximity Read ↗

The TRK-fused gene is mutated in hereditary motor and sensory neuropathy with proximal dominant involvement.Semantic proximity Read ↗

TFG mutation induces haploinsufficiency and drives axonal Charcot-Marie-Tooth disease by causing neurite degeneration.Semantic proximity Read ↗

Mutations in the ER-shaping protein reticulon 2 cause the axon-degenerative disorder hereditary spastic paraplegia type 12.Semantic proximity Read ↗

Evidence of TRK-Fused Gene (TFG1) function in the ubiquitin-proteasome system.Semantic proximity Read ↗

Novel Genetic, Clinical, and Pathomechanistic Insights into TFG-Associated Hereditary Spastic Paraplegia.Semantic proximity Read ↗

Pharmacologic rescue of axon growth defects in a human iPSC model of hereditary spastic paraplegia SPG3A.Semantic proximity Read ↗

TFG p.G269V Mutation Disrupts Motor Neuron Function in iPSC-Derived Models via Wnt Signaling Dysregulation.Semantic proximity Read ↗

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