标题
The effect of LRRK2 loss-of-function variants in humans
作者
关键词
-
出版物
NATURE MEDICINE
Volume -, Issue -, Pages -
出版商
Springer Science and Business Media LLC
发表日期
2020-05-28
DOI
10.1038/s41591-020-0893-5
参考文献
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注意:仅列出部分参考文献,下载原文获取全部文献信息。- PPM1H phosphatase counteracts LRRK2 signaling by selectively dephosphorylating Rab proteins
- (2019) Kerryn Berndsen et al. eLife
- The Parkinson's disease VPS35[D620N] mutation enhances LRRK2-mediated Rab protein phosphorylation in mouse and human
- (2018) Rafeeq Mir et al. BIOCHEMICAL JOURNAL
- Genomic Dissection of Bipolar Disorder and Schizophrenia, Including 28 Subphenotypes
- (2018) Douglas M. Ruderfer et al. CELL
- Leucine-Rich Repeat Kinase 2 in Parkinson’s Disease: Updated from Pathogenesis to Potential Therapeutic Target
- (2018) Jinhua Chen et al. EUROPEAN NEUROLOGY
- PFE-360-induced LRRK2 inhibition induces reversible, non-adverse renal changes in rats
- (2018) Michael Aagaard Andersen et al. TOXICOLOGY
- LRRK2 activation in idiopathic Parkinson’s disease
- (2018) Roberto Di Maio et al. Science Translational Medicine
- Frequency of Loss of Function Variants in LRRK2 in Parkinson Disease
- (2018) Cornelis Blauwendraat et al. JAMA Neurology
- Cohort Profile: The National FINRISK Study
- (2017) Katja Borodulin et al. INTERNATIONAL JOURNAL OF EPIDEMIOLOGY
- Human knockouts and phenotypic analysis in a cohort with a high rate of consanguinity
- (2017) Danish Saleheen et al. NATURE
- Phosphorylation of amyloid precursor protein by mutant LRRK2 promotes AICD activity and neurotoxicity in Parkinson’s disease
- (2017) Zhong-Can Chen et al. Science Signaling
- Ventilatory function as a predictor of mortality in lifelong non-smokers: evidence from large British cohort studies
- (2017) Ramyani P Gupta et al. BMJ Open
- Phosphorylation of amyloid precursor protein by mutant LRRK2 promotes AICD activity and neurotoxicity in Parkinson’s disease
- (2017) Zhong-Can Chen et al. Science Signaling
- LRRK2 Antisense Oligonucleotides Ameliorate α-Synuclein Inclusion Formation in a Parkinson’s Disease Mouse Model
- (2017) Hien Tran Zhao et al. Molecular Therapy-Nucleic Acids
- LRRK2 at the interface of autophagosomes, endosomes and lysosomes
- (2016) Dorien A. Roosen et al. Molecular Neurodegeneration
- Analysis of protein-coding genetic variation in 60,706 humans
- (2016) Monkol Lek et al. NATURE
- Increased burden of ultra-rare protein-altering variants among 4,877 individuals with schizophrenia
- (2016) Giulio Genovese et al. NATURE NEUROSCIENCE
- Quantifying prion disease penetrance using large population control cohorts
- (2016) Eric Vallabh Minikel et al. Science Translational Medicine
- Phosphoproteomics reveals that Parkinson's disease kinase LRRK2 regulates a subset of Rab GTPases
- (2016) Martin Steger et al. eLife
- A global reference for human genetic variation
- (2015) Richard A. Gibbs et al. NATURE
- The support of human genetic evidence for approved drug indications
- (2015) Matthew R Nelson et al. NATURE GENETICS
- Effect of selective LRRK2 kinase inhibition on nonhuman primate lung
- (2015) Reina N. Fuji et al. Science Translational Medicine
- CRISPRdirect: software for designing CRISPR/Cas guide RNA with reduced off-target sites
- (2014) Yuki Naito et al. BIOINFORMATICS
- Cohort Profile: Estonian Biobank of the Estonian Genome Center, University of Tartu
- (2014) Liis Leitsalu et al. INTERNATIONAL JOURNAL OF EPIDEMIOLOGY
- Inactivating Mutations in NPC1L1 and Protection from Coronary Heart Disease
- (2014) NEW ENGLAND JOURNAL OF MEDICINE
- Loss-of-Function Mutations in APOC3, Triglycerides, and Coronary Disease
- (2014) NEW ENGLAND JOURNAL OF MEDICINE
- The genomic psychiatry cohort: Partners in discovery
- (2013) Michele T. Pato et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS
- Genome-wide association analysis identifies 13 new risk loci for schizophrenia
- (2013) Stephan Ripke et al. NATURE GENETICS
- Validating therapeutic targets through human genetics
- (2013) Robert M. Plenge et al. NATURE REVIEWS DRUG DISCOVERY
- Loss of Leucine-Rich Repeat Kinase 2 (LRRK2) in Rats Leads to Progressive Abnormal Phenotypes in Peripheral Organs
- (2013) Marco A. S. Baptista et al. PLoS One
- Genetics of Parkinson's Disease
- (2013) C. Klein et al. Cold Spring Harbor Perspectives in Medicine
- LRRK2 knockout mice have an intact dopaminergic system but display alterations in exploratory and motor co-ordination behaviors
- (2012) Kelly M Hinkle et al. Molecular Neurodegeneration
- Cozzarelli Prize Winner: Robust cardiomyocyte differentiation from human pluripotent stem cells via temporal modulation of canonical Wnt signaling
- (2012) X. Lian et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- A Systematic Survey of Loss-of-Function Variants in Human Protein-Coding Genes
- (2012) D. G. MacArthur et al. SCIENCE
- Pybedtools: a flexible Python library for manipulating genomic datasets and annotations
- (2011) Ryan K. Dale et al. BIOINFORMATICS
- A robust clustering algorithm for identifying problematic samples in genome-wide association studies
- (2011) Céline Bellenguez et al. BIOINFORMATICS
- Web-Based Genome-Wide Association Study Identifies Two Novel Loci and a Substantial Genetic Component for Parkinson's Disease
- (2011) Chuong B. Do et al. PLoS Genetics
- Estimating GFR Using the CKD Epidemiology Collaboration (CKD-EPI) Creatinine Equation: More Accurate GFR Estimates, Lower CKD Prevalence Estimates, and Better Risk Predictions
- (2010) Andrew S. Levey et al. AMERICAN JOURNAL OF KIDNEY DISEASES
- The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data
- (2010) A. McKenna et al. GENOME RESEARCH
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