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

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 reve...

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Detalles Bibliográficos
Autores principales: Battaglia, Rachel, Faridounnia, Maryam, Beltran, Adriana, Robinson, Jasmine, Kinghorn, Karina, Ezzell, J. Ashley, Bharucha-Goebel, Diana, Bonnemann, Carsten, Hooper, Jody E., Opal, Puneet, Bouldin, Thomas W., Armao, Diane, Snider, Natasha
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10054982/
https://www.ncbi.nlm.nih.gov/pubmed/36993491
http://dx.doi.org/10.1101/2023.03.13.532440

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