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Article

Intermediate filament protein accumulation in motor neurons derived from giant axonal neuropathy iPSCs rescued by restoration of gigaxonin.

Human molecular genetics - 1 Mar 2015

Johnson-Kerner Bethany L, Ahmad Faizzan S, Diaz Alejandro Garcia, Greene John Palmer, Gray Steven J, Samulski Richard Jude, Chung Wendy K, Van Coster Rudy, Maertens Paul, Noggle Scott A, Henderson Christopher E, Wichterle Hynek

Abstract excerpt

Giant axonal neuropathy (GAN) is a progressive neurodegenerative disease caused by autosomal recessive mutations in the GAN gene resulting in a loss of a ubiquitously expressed protein, gigaxonin. Gene replacement therapy is a promising strategy for treatment of the disease; however, the effectiveness and safety of gigaxonin reintroduction have not been tested in human GAN nerve cells. Here we report the...

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Identifiers

PMID: 25398950
DOI: 10.1093/hmg/ddu556
PMCID: PMC4402342

Genes

GAN
PRPH
NEFL

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.

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