TY - JOUR
T1 - Vps13d promotes peroxisome biogenesis
AU - Baldwin, Heather A.
AU - Wang, Chunxin
AU - Kanfer, Gil
AU - Shah, Hetal V.
AU - Velayos-Baeza, Antonio
AU - Dulovic-Mahlow, Marija
AU - Brüggemann, Norbert
AU - Anding, Allyson
AU - Baehrecke, Erich
AU - Maric, Dragan
AU - Prinz, William A.
AU - Youle, Richard J.
N1 - Funding Information:
This work was supported by the National Institute of Neurological Disorders and Stroke Intramural Research Program. The authors declare no competing financial interests.
Funding Information:
We thank Dr. Katja Lohmann at University of L?beck for the VPS13D mutant human fibroblasts. We also thank Carolyn Smith and Vincent Schram of the National Institute of Neurological Disorders and Stroke and Eunice Kennedy Shriver National Institute of Child Health and Human Development light imaging microscopy facilities. A large portion of our analysis, including the development of the deep learning models, used the compu-tational resources of the National Institutes of Health High Performance Computing Biowulf cluster. This work was supported by the National Institute of Neurological Disorders and Stroke Intramural Research Program.
Publisher Copyright:
© 2021 Baldwin et al.
PY - 2021/5/3
Y1 - 2021/5/3
N2 - The VPS13 gene family consists of VPS13A–D in mammals. Although all four genes have been linked to human diseases, their cellular functions are poorly understood, particularly those of VPS13D. We generated and characterized knockouts of each VPS13 gene in HeLa cells. Among the individual knockouts, only VPS13D-KO cells exhibit abnormal mitochondrial morphology. Additionally, VPS13D loss leads to either partial or complete peroxisome loss in several transformed cell lines and in fibroblasts derived from a VPS13D mutation–carrying patient with recessive spinocerebellar ataxia. Our data show that VPS13D regulates peroxisome biogenesis.
AB - The VPS13 gene family consists of VPS13A–D in mammals. Although all four genes have been linked to human diseases, their cellular functions are poorly understood, particularly those of VPS13D. We generated and characterized knockouts of each VPS13 gene in HeLa cells. Among the individual knockouts, only VPS13D-KO cells exhibit abnormal mitochondrial morphology. Additionally, VPS13D loss leads to either partial or complete peroxisome loss in several transformed cell lines and in fibroblasts derived from a VPS13D mutation–carrying patient with recessive spinocerebellar ataxia. Our data show that VPS13D regulates peroxisome biogenesis.
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U2 - 10.1083/jcb.202001188
DO - 10.1083/jcb.202001188
M3 - Article
C2 - 33891012
AN - SCOPUS:85105694029
SN - 0021-9525
VL - 220
JO - Journal of Cell Biology
JF - Journal of Cell Biology
IS - 5
M1 - e202001188
ER -