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

doi:10.1083/jcb.202001188

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

58 Citations (Scopus)

Abstract

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 language	English
Article number	e202001188
Journal	The Journal of cell biology
Volume	220
Issue number	5
ISSN	0021-9525
DOIs	https://doi.org/10.1083/jcb.202001188
Publication status	Published - 03.05.2021

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10.1083/jcb.202001188

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title = "VPS13D promotes peroxisome biogenesis",

abstract = "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.",

author = "Baldwin, \{Heather A.\} and Chunxin Wang and Gil Kanfer and Shah, \{Hetal V.\} and Antonio Velayos-Baeza and Marija Dulovic-Mahlow and Norbert Br{\"u}ggemann and Allyson Anding and Baehrecke, \{Eric H.\} and Dragan Maric and Prinz, \{William A.\} and Youle, \{Richard J.\}",

note = "Publisher Copyright: {\textcopyright} 2021 Baldwin et al.",

year = "2021",

month = may,

day = "3",

doi = "10.1083/jcb.202001188",

language = "English",

volume = "220",

journal = "The Journal of cell biology",

issn = "0021-9525",

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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, Eric H.

AU - Maric, Dragan

AU - Prinz, William A.

AU - Youle, Richard J.

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.

UR - https://www.scopus.com/pages/publications/85105694029

U2 - 10.1083/jcb.202001188

DO - 10.1083/jcb.202001188

M3 - Journal articles

C2 - 33891012

AN - SCOPUS:85105694029

SN - 0021-9525

VL - 220

JO - The Journal of cell biology

JF - The Journal of cell biology

IS - 5

M1 - e202001188

ER -

VPS13D promotes peroxisome biogenesis

Abstract

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