VPS13D promotes peroxisome biogenesis
| Autor: | Dragan Maric, Gil Kanfer, William A. Prinz, Hetal V. Shah, Eric H. Baehrecke, Heather Baldwin, Richard J. Youle, Chunxin Wang, Norbert Brüggemann, Allyson L. Anding, Antonio Velayos-Baeza, Marija Dulovic-Mahlow |
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| Rok vydání: | 2020 |
| Předmět: |
Organelles
Proteins Cell Biology Peroxisome Mitochondrion Biology medicine.disease Biochemistry Article Cell biology Mitochondria Systems and Computational Biology HEK293 Cells Mutation Spinocerebellar ataxia medicine Peroxisomes Gene family Humans Gene Biogenesis Gene knockout Membrane and lipid biology Abnormal mitochondrial morphology HeLa Cells |
| Zdroj: | The Journal of Cell Biology |
| ISSN: | 1540-8140 |
| Popis: | The VPS13 proteins (VPS13A–D) are thought to mediate lipid transport between organelles and are linked to distinct neurological disorders in humans. Baldwin et al. found that, in addition to known involvement in mitochondrial morphology, VPS13D is essential for peroxisome biogenesis. 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. |
| Databáze: | OpenAIRE |
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