Article

Calpain-mediated proteolysis of vimentin filaments is augmented in Giant Axonal Neuropathy (GAN) fibroblasts exposed to hypotonic stress

2022-08-01

Abstract excerpt

Giant Axonal Neuropathy (GAN) is a pediatric neurodegenerative disease caused by loss-of-function mutations in the E3 ubiquitin ligase adaptor gigaxonin, which is encoded by the GAN ( KLHL16 ) gene. Gigaxonin regulates the degradation of multiple intermediate filament (IF) proteins, including neurofilaments, GFAP, and vimentin. In the absence of functional gigaxonin, GAN patients display abnormal cytoplasmic IF...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 57366efb-0bc6-5668-85a0-bc9e33f0220b
DOI: 10.1101/2022.07.31.501244

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Calpain-mediated proteolysis of vimentin filaments is augmented in Giant Axonal Neuropathy (GAN) fibroblasts exposed to hypotonic stressDOI 10.1101/2022.07.31.501244Read

Abnormal intermediate filament organization alters mitochondrial motility in giant axonal neuropathy fibroblasts.Semantic proximity Read

Giant axonal neuropathy-associated gigaxonin mutations impair intermediate filament protein degradation.Semantic proximity Read

Proteomic analysis in giant axonal neuropathy: New insights into disease mechanismsSemantic proximity Read

Intermediate filament dysregulation and astrocytopathy in the human disease model of <i>KLHL16</i> mutation in giant axonal neuropathy (GAN)Semantic proximity Read

The Kelch 3 motif on gigaxonin mediates the interaction with NUDCD3 and regulates vimentin filament morphologySemantic proximity Read

Alterations in lipid metabolism gene expression and abnormal lipid accumulation in fibroblast explants from giant axonal neuropathy patients.Semantic proximity Read

Giant axonal neuropathy: An updated perspective on its pathology and pathogenesis.Semantic proximity Read

Glycosylation of gigaxonin regulates intermediate filaments: Novel molecular insights into giant axonal neuropathySemantic proximity Read

Gigaxonin, mutated in Giant Axonal Neuropathy, interacts with TDP-43 and other RNA binding proteinsSemantic proximity Read

Disease mutation in gigaxonin-E3 ligase recapitulates giant axonal neuropathy in mice.Semantic proximity Read

A New Mouse Model of Giant Axonal Neuropathy with Overt Phenotypes and Neurodegeneration Driven by Neurofilament Disorganization.Semantic proximity Read

The gene encoding gigaxonin, a new member of the cytoskeletal BTB/kelch repeat family, is mutated in giant axonal neuropathy.Semantic proximity Read