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

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• 作者：Tomá ; s Lopes da Fonseca^a ; ^d ; Ana Correia^a ; ^b ; Wiebren Hasselaar^c ; Herma C. van der Linde^c ; Rob Willemsen^c ; ¹ ; Tiago Fleming Outeiro^a ; ^b ; ^d ; ¹ ; ^{touteiro@gmail.com}
• 关键词：ATP13A2 ; Zebrafish ; Parkinson's disease ; Development ; Kufor-Rakeb syndrome
• 刊名：Brain Research Bulletin
• 出版年：2013
• 出版时间：January, 2013
• 年：2013
• 卷：90
• 期：Complete
• 页码：118-126
• 全文大小：1104 K

文摘

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.