The zebrafish homologue of Parkinson's disease ATP13A2 is essential for embryonic survival

被引：17

作者：

da Fonseca, Tomas Lopes ^{[1
,4
]}

Correia, Ana ^{[1
,2
]}

Hasselaar, Wiebren ^{[3
]}

van der Linde, Herma C. ^{[3
]}

Willemsen, Rob ^{[3
]}

Outeiro, Tiago Fleming ^{[1
,2
,4
]}

机构：

[1] Inst Mol Med, Cell & Mol Neurosci Unit, Lisbon, Portugal

[2] Univ Lisbon, Inst Fisiol, Fac Med, P-1649028 Lisbon, Portugal

[3] Erasmus MC, Dept Clin Genet, Rotterdam, Netherlands

[4] Univ Med Gottingen, Dept Neurodegenerat & Restorat Res, Ctr Mol Physiol Brain, D-37073 Gottingen, Germany

来源：

BRAIN RESEARCH BULLETIN | 2013年 / 90卷

关键词：

ATP13A2; Zebrafish; Parkinson's disease; Development; Kufor-Rakeb syndrome; ALPHA-SYNUCLEIN; PYRAMIDAL DEGENERATION; DANIO-RERIO; EXPRESSION; MUTATIONS; DEMENTIA; ATPASES; MODELS; GENES;

D O I：

10.1016/j.brainresbull.2012.09.017

中图分类号：

Q189 [神经科学];

学科分类号：

071006 ;

摘要：

ATP13A2 is a lysosome-specific transmembrane ATPase protein of unknown function. This protein was initially linked to Kufor-Rakeb syndrome where it is absent or mutated. More recently, point mutations in ATP13A2 were linked to familial cases of Parkinson's disease. Zebrafish is commonly used as a vertebrate model for the study of different neurodegenerative diseases and has homologues of several Parkinson's disease associated proteins. Here, we describe for the first time the zebrafish homologue of human ATP13A2, demonstrating the homology between the protein sequences, which supports a conserved biological role. Furthermore, the spatial pattern of protein expression was studied and the lethality of the knockdown of ATP13A2 suggests it plays a crucial role during embryonic development. Our findings bring new insight into the biology of ATP13A2 and open novel opportunities for its study using zebrafish as a model organism. (c) 2012 Elsevier Inc. All rights reserved.

引用

页码：118 / 126

页数：9