VPS13D promotes peroxisome biogenesis

Heather A. Baldwin, Chunxin Wang, Gil Kanfer, Hetal V. Shah, Antonio Velayos-Baeza, Marija Dulovic-Mahlow, Norbert Brüggemann, Allyson Anding, Eric H. Baehrecke, Dragan Maric, William A. Prinz, Richard J. Youle

2 Citations (Scopus)


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.

Original languageEnglish
Article numbere202001188
JournalThe Journal of cell biology
Issue number5
Publication statusPublished - 03.05.2021


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