Intermediate filament dysregulation in astrocytes in the human disease model of <i>KLHL16</i> mutation in giant axonal neuropathy (GAN)-Reference-Cited by-同舟云学术

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

Published:2023-11-01 Issue:12 Volume:34 Page:
ISSN:1059-1524
Container-title:Molecular Biology of the Cell
language:en
Short-container-title:MBoC

Author:

Battaglia Rachel A.¹,Faridounnia Maryam¹,Beltran Adriana²,Robinson Jasmine¹,Kinghorn Karina¹,Ezzell J. Ashley¹,Bharucha-Goebel Diana³,Bönnemann Carsten G.³,Hooper Jody E.⁴,Opal Puneet⁵,Bouldin Thomas W.⁶,Armao Diane⁶⁷,Snider Natasha T.¹^ORCID

Affiliation:

1. Department of Cell Biology and Physiology, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599

2. Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599

3. National Institute of Neurological Diseases and Stroke, Bethesda, MD 20824

4. Department of Pathology, Stanford University, Palo Alto, CA 94305

5. Departments of Neurology and Cell and Developmental Biology, Northwestern University, Chicago, IL 60611

6. Department of Pathology and Laboratory Medicine, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599

7. Department of Radiology, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599

Abstract

In this work, the authors we used patient-derived induced- pluripotent stem cells (iPSCs) and directed differentiation to develop human astrocyte and brain- organoid models of giant- axonal neuropathy (GAN), which is caused by KLHL16 gene mutations. These models reproduce abnormalities of the intermediate- filament cytoskeleton similar to astrocytes of GAN patients in vivo. The studies reveal new mechanisms regarding the role of vimentin in glial fibrillary acidic- protein (GFAP) aggregation and KLHL16 mRNA localization in cells.

Publisher

American Society for Cell Biology (ASCB)

Subject

Cell Biology,Molecular Biology

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