Identification of a large homozygous VPS13C deletion in a patient with early-onset Parkinsonism.
作者信息
Darvish Hossein, Bravo Paloma, Tafakhori Abbas, Azcona Luis J, Ranji-Burachaloo Sakineh, Johari Amir Hossein, Paisán-Ruiz Coro
机构信息
Department of Medical Genetics, Semnan University of Medical Sciences, Semnan, Iran.
Department of Neurology, Icahn School of Medicine at Mount Sinai, One Gustave L, New York, New York, USA.
出版信息
Mov Disord. 2018 Dec;33(12):1968-1970. doi: 10.1002/mds.27516. Epub 2018 Nov 19.
Abstract
摘要
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本文引用的文献
1
Diagnostic exome sequencing in early-onset Parkinson's disease confirms VPS13C as a rare cause of autosomal-recessive Parkinson's disease.早发性帕金森病的诊断外显子组测序证实 VPS13C 是常染色体隐性帕金森病的罕见病因。
Clin Genet. 2018 Mar;93(3):603-612. doi: 10.1111/cge.13124. Epub 2018 Jan 24.
2
Identification of a Large DNAJB2 Deletion in a Family with Spinal Muscular Atrophy and Parkinsonism.在一个患有脊髓性肌萎缩症和帕金森症的家族中鉴定出一个大的DNAJB2基因缺失。
Hum Mutat. 2016 Nov;37(11):1180-1189. doi: 10.1002/humu.23055. Epub 2016 Aug 21.
3
Loss of VPS13C Function in Autosomal-Recessive Parkinsonism Causes Mitochondrial Dysfunction and Increases PINK1/Parkin-Dependent Mitophagy.常染色体隐性帕金森病中VPS13C功能丧失导致线粒体功能障碍并增加PINK1/帕金蛋白依赖性线粒体自噬。
Am J Hum Genet. 2016 Mar 3;98(3):500-513. doi: 10.1016/j.ajhg.2016.01.014.
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Retroelements in human disease.人类疾病中的 retroelements（反转录元件）。
Gene. 2013 Apr 15;518(2):231-41. doi: 10.1016/j.gene.2013.01.008. Epub 2013 Jan 17.
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Genomic disorders: molecular mechanisms for rearrangements and conveyed phenotypes.基因组疾病：重排及相关表型的分子机制
PLoS Genet. 2005 Dec;1(6):e49. doi: 10.1371/journal.pgen.0010049.
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