Article

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

2023-03-14

Abstract excerpt

Giant Axonal Neuropathy (GAN) is a pediatric neurodegenerative disease caused by KLHL16 mutations. KLHL16 encodes gigaxonin, a regulator of intermediate filament (IF) protein turnover. Previous neuropathological studies and our own examination of postmortem GAN brain tissue in the current study revealed astrocyte involvement in GAN. To study the underlying mechanisms, we reprogrammed skin fibroblasts from seven...

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Literature Corpus work: b153ff20-f216-55ad-bbeb-edd276641d82
DOI: 10.1101/2023.03.13.532440

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Intermediate filament dysregulation and astrocytopathy in the human disease model of <i>KLHL16</i> mutation in giant axonal neuropathy (GAN)DOI 10.1101/2023.03.13.532440Read

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