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Proceedings of the National Academy of Sciences of the United States of America
影响因子:12.779 DOI:10.1073/pnas.2004335117
作者: Cao M,Park D,Wu Y,De Camilli P 发表时间:2020-09-10 12:28:01
keywords: Cao MPark DWu YDe Camilli P
关键词:
Abstract
:Numerous genes whose mutations cause, or increase the risk of, Parkinson's disease (PD) have been identified. An inactivating mutation (R258Q) in the Sac inositol phosphatase domain of synaptojanin 1 (SJ1/PARK20), a phosphoinositide phosphatase implicated in synaptic vesicle recycling, results in PD. The gene encoding Sac2/INPP5F, another Sac domain-containing protein, is located within a PD risk locus identified by genome-wide association studies. Knock-In mice carrying the SJ1 patient mutation (SJ1RQKI) exhibit PD features, while Sac2 knockout mice (Sac2KO) do not have obvious neurologic defects. We report a "synthetic" effect of the SJ1 mutation and the KO of Sac2 in mice. Most mice with both mutations died perinatally. The occasional survivors had stunted growth, died within 3 wk, and showed abnormalities of striatal dopaminergic nerve terminals at an earlier stage than SJ1RQKI mice. The abnormal accumulation of endocytic factors observed at synapses of cultured SJ1RQKI neurons was more severe in double-mutant neurons. Our results suggest that SJ1 and Sac2 have partially overlapping functions and are consistent with a potential role of Sac2 as a PD risk gene.
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英文简介 : PNAS is one of the world's most-cited and comprehensive multidisciplinary scientific journals, publishing more than 3,200 research papers annually. Submissions are accepted from all researchers; authors do not need to have a connection to an NAS member to publish in PNAS. Established in 1914, PNAS publishes cutting-edge research, science news, Commentaries, Perspectives, Colloquium Papers, Reviews, and actions of the NAS. PNAS is available by subscription and all content is free after 6 months. The journal's content spans the biological, physical, and social sciences and is global in scope. Nearly half of all accepted papers come from authors outside the United States. PNAS strives to publish only the highest quality scientific research, and papers undergo rigorous peer review and approval by an NAS member before publication.
中文简介 : (来自Google、百度翻译) PNAS是世界上被引用最多的综合性多学科科学期刊之一,每年发表3200多篇研究论文。所有研究人员均可提交研究报告;作者不需要连接到NAS成员就可以在PNAS中发布。 PNAS成立于1914年,出版前沿研究、科学新闻、评论、观点、研讨会论文、评论和NAS的行动。PNAS可通过订阅获得,6个月后所有内容都是免费的。 该杂志的内容涵盖了生物、物理和社会科学,并且是全球性的。将近一半被接受的论文来自美国以外的作者。 PNAS致力于只发表最高质量的科学研究,论文在发表前要经过NAS成员的严格同行评审和批准。
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