VPS13D promotes peroxisome biogenesis

被引：49

作者：

Baldwin, Heather A. ^{[1
,2
]}

Wang, Chunxin ^{[1
]}

Kanfer, Gil ^{[1
]}

Shah, Hetal, V ^{[1
,3
]}

Velayos-Baeza, Antonio ^{[4
]}

Dulovic-Mahlow, Marija ^{[5
]}

Brueggemann, Norbert ^{[5
,6
]}

Anding, Allyson ^{[7
]}

Baehrecke, Eric H. ^{[7
]}

Maric, Dragan ^{[8
]}

Prinz, William A. ^{[9
]}

Youle, Richard J. ^{[1
]}

机构：

[1] NINDS, Biochem Sect, Surg Neurol Branch, NIH, Bldg 36,Rm 4D04, Bethesda, MD 20892 USA

[2] Johns Hopkins Univ, Cell Mol Dev Biol & Biophys Doctoral Program, Baltimore, MD USA

[3] Univ Maryland, Program Neurosci & Cognit Sci, College Pk, MD 20742 USA

[4] Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford, England

[5] Univ Lubeck, Inst Neurogenet, Lubeck, Germany

[6] Univ Lubeck, Dept Neurol, Lubeck, Germany

[7] Univ Massachusetts, Sch Med, Dept Mol Cell & Canc Biol, Worcester, MA USA

[8] NINDS, Flow Cytometry Core Facil, NIH, Bldg 36,Rm 4D04, Bethesda, MD 20892 USA

[9] NIDDK, Lab Cell & Mol Biol, NIH, Bethesda, MD 20892 USA

来源：

JOURNAL OF CELL BIOLOGY | 2021年 / 220卷 / 05期

关键词：

SYNDROME-ASSOCIATED PROTEIN; COHEN-SYNDROME; MOLECULAR-BASIS; MITOCHONDRIAL; MUTATIONS; GENE; IDENTIFICATION; YEAST; DISORDERS; DEFECTS;

D O I：

10.1083/jcb.202001188

中图分类号：

Q2 [细胞生物学];

学科分类号：

071009 ; 090102 ;

摘要：

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.

引用

页数：26

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