De Novo and Inherited Variants in GBF1 are Associated with Axonal Neuropathy Caused by Golgi Fragmentation.

doi:10.1016/j.ajhg.2020.08.018

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Community

Back to search

Article

De Novo and Inherited Variants in GBF1 are Associated with Axonal Neuropathy Caused by Golgi Fragmentation.

American journal of human genetics - 1 Oct 2020

Mendoza-Ferreira Natalia, Karakaya Mert, Cengiz Nur, Beijer Danique, Brigatti Karlla W, Gonzaga-Jauregui Claudia, Fuhrmann Nico, Hölker Irmgard, Thelen Maximilian P, Zetzsche Sebastian, Rombo Roman, Puffenberger Erik G, De Jonghe Peter, Deconinck Tine, Zuchner Stephan, Strauss Kevin A, Carson Vincent, Schrank Bertold, Wunderlich Gilbert, Baets Jonathan, Wirth Brunhilde

Abstract excerpt

Distal hereditary motor neuropathies (HMNs) and axonal Charcot-Marie-Tooth neuropathy (CMT2) are clinically and genetically heterogeneous diseases characterized primarily by motor neuron degeneration and distal weakness. The genetic cause for about half of the individuals affected by HMN/CMT2 remains unknown. Here, we report the identification of pathogenic variants in GBF1 (Golgi brefeldin A-resistant guanine...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Charcot-Marie-Tooth Disease

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to COP-Coated Vesicles

Share to Guanine Nucleotide Exchange Factors

Share to Muscle Weakness

Share to Muscular Atrophy, Spinal

Share to Musculoskeletal Abnormalities

Share to Primary Cell Culture

Share to Spinal Cord

Source

Open in PubMed Open full text

Identifiers

PMID: 32937143
DOI: 10.1016/j.ajhg.2020.08.018
PMCID: PMC7491385

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

De Novo and Inherited Variants in GBF1 are Associated with Axonal Neuropathy Caused by Golgi Fragmentation.PMID 32937143Read ↗

A Novel GBF1 Variant in a Charcot-Marie-Tooth Type 2: Insights from Familial Analysis.Semantic proximity Read ↗

Mitochondrial dysfunction and pathophysiology of Charcot-Marie-Tooth disease involving GDAP1 mutations.Semantic proximity Read ↗

Ganglioside-induced differentiation associated protein 1 is a regulator of the mitochondrial network: new implications for Charcot-Marie-Tooth disease.Semantic proximity Read ↗

Mutations in GDAP1 Influence Structure and Function of the Trans-Golgi Network.Semantic proximity Read ↗

Dominant GDAP1 mutations cause predominantly mild CMT phenotypes.Semantic proximity Read ↗

Alzheimer’s disease-associated Presenilin 2 N141I mutation impairs neuronal lipid homeostasis and mitochondrial dynamics through selective downregulation of the Golgi exchange factor <i>Gbf1</i>Semantic proximity Read ↗

A role for the GDAP1 gene in the molecular pathogenesis of Charcot‑Marie‑Tooth disease.Semantic proximity Read ↗

Dominant spinal muscular atrophy is caused by mutations in BICD2, an important golgin proteinSemantic proximity Read ↗

Mitochondrial dynamics and inherited peripheral nerve diseases.Semantic proximity Read ↗

Pathomechanisms of mutant proteins in Charcot-Marie-Tooth disease.Semantic proximity Read ↗

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

⌁Select a neighboring publication to make it the new centre.