PPP2R5D基因突变与早发性帕金森病 - Suppr

PPP2R5D Genetic Mutations and Early-Onset Parkinsonism.

作者信息

Walker Ian M, Riboldi Giulietta M, Drummond Patrick, Saade-Lemus Sandra, Martin-Saavedra Juan Sebastian, Frucht Steven, Bardakjian Tanya M, Gonzalez-Alegre Pedro, Deik Andres

机构信息

Department of Neurology, Parkinson's Disease and Movement Disorders Center, University of Pennsylvania, Philadelphia, PA, USA.

Department of Neurology, Fresco Institute for Parkinson's and Movement Disorders, New York University School of Medicine, New York, NY, USA.

出版信息

Ann Neurol. 2021 Jan;89(1):194-195. doi: 10.1002/ana.25943. Epub 2020 Nov 5.

DOI:10.1002/ana.25943

PMID:33098144

Abstract

摘要

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PPP2R5D Genetic Mutations and Early-Onset Parkinsonism.PPP2R5D基因突变与早发性帕金森病

Ann Neurol. 2021 Jan;89(1):194-195. doi: 10.1002/ana.25943. Epub 2020 Nov 5.

Reply to "PPP2R5D Genetic Mutations and Early Onset Parkinsonism".对“PPP2R5D基因突变与早发性帕金森病”的回复

Ann Neurol. 2021 Jan;89(1):195-196. doi: 10.1002/ana.25945. Epub 2020 Nov 11.

Early-Onset Parkinsonism Is a Manifestation of the PPP2R5D p.E200K Mutation.早发性帕金森病是 PPP2R5D p.E200K 突变的表现。

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Early-onset parkinsonism in PPP2R5D-related neurodevelopmental disorder.PPP2R5D 相关性神经发育障碍中的早发性帕金森病。

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Early-onset levodopa responsive parkinsonism in PPP2R5D mutation.PPP2R5D突变所致早发性左旋多巴反应性帕金森综合征

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PPP2R5D heterozygous pathogenic variant causes early-onset parkinsonism and treatment implications: A case report.PPP2R5D 杂合致病性变异导致早发性帕金森病及治疗意义：病例报告。

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Role of parkin mutations in 111 community-based patients with early-onset parkinsonism.帕金基因突变在111例社区早发性帕金森综合征患者中的作用。

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Clinical and neuroimaging phenotypes of genetic parkinsonism from infancy to adolescence.从婴儿期到青春期遗传帕金森病的临床和神经影像学表型。

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The nigrostriatal dopaminergic system in familial early onset parkinsonism with parkin mutations.伴有帕金基因突变的家族性早发型帕金森病中的黑质纹状体多巴胺能系统。

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Pathogenic PPP2R5D variants disrupt neuronal development and neurite outgrowth in patient-derived neurons that are reversed by allele-specific knockdown.致病性PPP2R5D变体破坏患者来源神经元的神经发育和神经突生长，而等位基因特异性敲低可逆转这种情况。

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Pathogenic de novo variants in PPP2R5C cause a neurodevelopmental disorder within the Houge-Janssens syndrome spectrum.PPP2R5C基因的致病性新生变异导致了豪格-扬森斯综合征谱系内的一种神经发育障碍。

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Thirteen New Patients of Gene Mutation and the Fine Profile of Genotype-Phenotype Correlation Unraveling the Pathogenic Mechanism Underlying Macrocephaly Phenotype.13例基因突变新患者及基因型-表型相关性精细剖析：揭示巨头畸形表型背后的致病机制

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B56δ long-disordered arms form a dynamic PP2A regulation interface coupled with global allostery and Jordan's syndrome mutations.B56δ 长无序臂形成动态的 PP2A 调节界面，与全局变构和乔丹综合征突变相耦合。

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Extended regulation interface coupled to the allosteric network and disease mutations in the PP2A-B56δ holoenzyme.与PP2A-B56δ全酶中的变构网络和疾病突变相关的扩展调节界面。

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The role of serine/threonine phosphatases in human development: Evidence from congenital disorders.丝氨酸/苏氨酸磷酸酶在人类发育中的作用：来自先天性疾病的证据。

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PTPA variants and impaired PP2A activity in early-onset parkinsonism with intellectual disability.早发性帕金森病伴智力障碍患者中 PTPA 变异和 PP2A 活性受损。

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Homozygosity Haplotype and Whole-Exome Sequencing Analysis to Identify Potentially Functional Rare Variants Involved in Multiple Sclerosis among Sardinian Families.对单核苷酸多态性单体型和全外显子组测序分析，以确定撒丁岛家族多发性硬化症中潜在的功能罕见变异。

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PPP2R5D Genetic Mutations and Early-Onset Parkinsonism.

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