Heterozygous PINK1 p.G411S increases risk of Parkinson's disease via a dominant-negative mechanism.
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The PINK1 p.I368N mutation affects protein stability and ubiquitin kinase activityPINK1, Parkin, and Mitochondrial Quality Control: What can we Learn about Parkinson's Disease Pathobiology?Ubiquitin and Parkinson's disease through the looking glass of genetics.Twenty years since the discovery of the parkin gene.New Genes Causing Hereditary Parkinson's Disease or Parkinsonism.Long-term oral kinetin does not protect against α-synuclein-induced neurodegeneration in rodent models of Parkinson's disease.Direct Neuronal Reprogramming for Disease Modeling Studies Using Patient-Derived Neurons: What Have We Learned?PINK1-Based Screen Shines Light on Autophagy Enhancers for Parkinson's Disease.Mitochondrial targeted HSP90 inhibitor Gamitrinib-TPP (G-TPP) induces PINK1/Parkin-dependent mitophagy.Parkinson's disease: experimental models and reality.Idiopathic REM sleep behaviour disorder and neurodegeneration - an update.Mutations and mechanism: how PINK1 may contribute to risk of sporadic Parkinson's disease.Accelerated bottom-up drug design platform enables the discovery of novel stearoyl-CoA desaturase 1 inhibitors for cancer therapy.Representing Diversity in the Dish: Using Patient-Derived in Vitro Models to Recreate the Heterogeneity of Neurological Disease.Protein molecular modeling techniques investigating novel TAB2 variant R347X causing cardiomyopathy and congenital heart defects in multigenerational family.PINK1 autophosphorylation is required for ubiquitin recognition.Relationships between Rapid Eye Movement Sleep Behavior Disorder and Neurodegenerative Diseases: Clinical Assessments, Biomarkers, and Treatment.Cellular and Molecular Basis of Neurodegeneration in Parkinson Disease.Whole Exome Sequencing and Molecular Modeling of a Missense Variant in TNFAIP3 That Segregates with Disease in a Family with Chronic Urticaria and Angioedema.
P2860
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P2860
Heterozygous PINK1 p.G411S increases risk of Parkinson's disease via a dominant-negative mechanism.
description
2016 nî lūn-bûn
@nan
2016年の論文
@ja
2016年学术文章
@wuu
2016年学术文章
@zh-cn
2016年学术文章
@zh-hans
2016年学术文章
@zh-my
2016年学术文章
@zh-sg
2016年學術文章
@yue
2016年學術文章
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2016年學術文章
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name
Heterozygous PINK1 p.G411S inc ...... a dominant-negative mechanism.
@en
Heterozygous PINK1 p.G411S inc ...... a dominant-negative mechanism.
@nl
type
label
Heterozygous PINK1 p.G411S inc ...... a dominant-negative mechanism.
@en
Heterozygous PINK1 p.G411S inc ...... a dominant-negative mechanism.
@nl
prefLabel
Heterozygous PINK1 p.G411S inc ...... a dominant-negative mechanism.
@en
Heterozygous PINK1 p.G411S inc ...... a dominant-negative mechanism.
@nl
P2093
P2860
P50
P356
P1433
P1476
Heterozygous PINK1 p.G411S inc ...... a dominant-negative mechanism.
@en
P2093
Andreas Puschmann
Dariusz Koziorowski
Dominika Truban
Elle D James
George D Mellick
Grzegorz Opala
Jan O Aasly
Kotaro Ogaki
Magdalena Boczarska-Jedynak
P2860
P304
P356
10.1093/BRAIN/AWW261
P407
P50
P577
2016-11-02T00:00:00Z