Mark R. Cookson

Cell Biology and Gene Expression Section, National Institute on Aging, National Institutes of Health

Affiliated withNational Institute on Aging, National Institutes of Health

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JoVE Journal Publications

ArticleTotal : 1	Year
Publication title Cited by 6	2021

Other Publications

Article	Year
Pathways to Parkinsonism. Neuron\| PubMed ID: 12526767	2003
Microarray analysis reveals induction of heat shock proteins mRNAs by the torsion dystonia protein, TorsinA. Neuroscience letters\| PubMed ID: 12749984	2003
Crystallizing ideas about Parkinson's disease. Proceedings of the National Academy of Sciences of the United States of America\| PubMed ID: 12886009	2003
Dominant torsinA mutations in cellular systems. Advances in neurology\| PubMed ID: 14509657	2004
Molecules that cause or prevent Parkinson's disease. PLoS biology\| PubMed ID: 15547643	2004
How genetics research in Parkinson's disease is enhancing understanding of the common idiopathic forms of the disease. Current opinion in neurology\| PubMed ID: 16280683	2005
Dystonia and the nuclear envelope. Neuron\| PubMed ID: 16364891	2005
Proteomic analysis reveals co-ordinated alterations in protein synthesis and degradation pathways in LRRK2 knockout mice. Human molecular genetics\| PubMed ID: 29917075	2018
Amyotrophic lateral sclerosis 2-deficiency leads to neuronal degeneration in amyotrophic lateral sclerosis through altered AMPA receptor trafficking. The Journal of neuroscience : the official journal of the Society for Neuroscience\| PubMed ID: 17093100	2006
Deletion at ITPR1 underlies ataxia in mice and spinocerebellar ataxia 15 in humans. PLoS genetics\| PubMed ID: 17590087	2007
DYT16, a novel young-onset dystonia-parkinsonism disorder: identification of a segregating mutation in the stress-response protein PRKRA. The Lancet. Neurology\| PubMed ID: 18243799	2008
Post-transcriptional regulation of mRNA associated with DJ-1 in sporadic Parkinson disease. Neuroscience letters\| PubMed ID: 19146923	2009
Leucine-rich repeat kinase 2 mutations and Parkinson's disease: three questions. ASN neuro\| PubMed ID: 19570025	2009
Genome-wide association study reveals genetic risk underlying Parkinson's disease. Nature genetics\| PubMed ID: 19915575	2009
The Parkinson's disease associated LRRK2 exhibits weaker in vitro phosphorylation of 4E-BP compared to autophosphorylation. PloS one\| PubMed ID: 20090955	2010
Deep sequencing of coding and non-coding RNA in the CNS. Brain research\| PubMed ID: 20307502	2010
Parkinson's disease: insights from pathways. Human molecular genetics\| PubMed ID: 20421364	2010
Abundant quantitative trait loci exist for DNA methylation and gene expression in human brain. PLoS genetics\| PubMed ID: 20485568	2010
DJ-1 acts in parallel to the PINK1/parkin pathway to control mitochondrial function and autophagy. Human molecular genetics\| PubMed ID: 20940149	2011
The role of leucine-rich repeat kinase 2 (LRRK2) in Parkinson's disease. Nature reviews. Neuroscience\| PubMed ID: 21088684	2010
DJ-1 regulation of mitochondrial function and autophagy through oxidative stress. Autophagy\| PubMed ID: 21317550	2011
Mitochondrial quality control and dynamics in Parkinson's disease. Antioxidants & redox signaling\| PubMed ID: 21568830	2012
Role of LRRK2 kinase dysfunction in Parkinson disease. Expert reviews in molecular medicine\| PubMed ID: 21676337	2011
Is inhibition of kinase activity the only therapeutic strategy for LRRK2-associated Parkinson's disease? BMC medicine\| PubMed ID: 22361010	2012
Integration of GWAS SNPs and tissue specific expression profiling reveal discrete eQTLs for human traits in blood and brain. Neurobiology of disease\| PubMed ID: 22433082	2012
The G2385R variant of leucine-rich repeat kinase 2 associated with Parkinson's disease is a partial loss-of-function mutation. The Biochemical journal\| PubMed ID: 22612223	2012
Parkinsonism due to mutations in PINK1, parkin, and DJ-1 and oxidative stress and mitochondrial pathways. Cold Spring Harbor perspectives in medicine\| PubMed ID: 22951446	2012
Cell population-specific expression analysis of human cerebellum. BMC genomics\| PubMed ID: 23145530	2012
Age-associated changes in gene expression in human brain and isolated neurons. Neurobiology of aging\| PubMed ID: 23177596	2013
mRNA expression, splicing and editing in the embryonic and adult mouse cerebral cortex. Nature neuroscience\| PubMed ID: 23416452	2013
Age-associated miRNA alterations in skeletal muscle from rhesus monkeys reversed by caloric restriction. Aging\| PubMed ID: 24036467	2013
Genetic comorbidities in Parkinson's disease. Human molecular genetics\| PubMed ID: 24057672	2014
Unbiased screen for interactors of leucine-rich repeat kinase 2 supports a common pathway for sporadic and familial Parkinson disease. Proceedings of the National Academy of Sciences of the United States of America\| PubMed ID: 24510904	2014
LRRK2: dropping (kinase) inhibitions and seeking an (immune) response. Journal of neurochemistry\| PubMed ID: 24661004	2014
Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosis. Nature neuroscience\| PubMed ID: 24686783	2014
Post-translational decrease in respiratory chain proteins in the Polg mutator mouse brain. PloS one\| PubMed ID: 24722488	2014
Downregulation of Pink1 influences mitochondrial fusion-fission machinery and sensitizes to neurotoxins in dopaminergic cells. Neurotoxicology\| PubMed ID: 24792327	2014
Differential protein-protein interactions of LRRK1 and LRRK2 indicate roles in distinct cellular signaling pathways. Journal of neurochemistry\| PubMed ID: 24947832	2014
Heterogeneity of leucine-rich repeat kinase 2 mutations: genetics, mechanisms and therapeutic implications. Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics\| PubMed ID: 24957201	2014
Lardy brains make Parkinson's disease mice worse. Journal of neurochemistry\| PubMed ID: 25142063	2014
Genetic variability in the regulation of gene expression in ten regions of the human brain. Nature neuroscience\| PubMed ID: 25174004	2014
Common genetic variants influence human subcortical brain structures. Nature\| PubMed ID: 25607358	2015
Pathways to Parkinsonism Redux: convergent pathobiological mechanisms in genetics of Parkinson's disease. Human molecular genetics\| PubMed ID: 26101198	2015
Genes associated with Parkinson's disease: regulation of autophagy and beyond. Journal of neurochemistry\| PubMed ID: 26223426	2016
The Polg Mutator Phenotype Does Not Cause Dopaminergic Neurodegeneration in DJ-1-Deficient Mice. eNeuro\| PubMed ID: 26464968	2015
ADAR2 affects mRNA coding sequence edits with only modest effects on gene expression or splicing in vivo. RNA biology\| PubMed ID: 26669816	2016
The function of orthologues of the human Parkinson's disease gene LRRK2 across species: implications for disease modelling in preclinical research. The Biochemical journal\| PubMed ID: 26811536	2016
The Effects of Variants in the Parkin, PINK1, and DJ-1 Genes along with Evidence for their Pathogenicity. Current protein & peptide science\| PubMed ID: 26965687	2017
Structure, function, and leucine-rich repeat kinase 2: On the importance of reproducibility in understanding Parkinson's disease. Proceedings of the National Academy of Sciences of the United States of America\| PubMed ID: 27422551	2016
RNA-binding proteins implicated in neurodegenerative diseases. Wiley interdisciplinary reviews. RNA\| PubMed ID: 27659605	2017
Novel genetic loci underlying human intracranial volume identified through genome-wide association. Nature neuroscience\| PubMed ID: 27694991	2016
The impact of fraudulent and irreproducible data to the translational research crisis - solutions and implementation. Journal of neurochemistry\| PubMed ID: 27797406	2016
Cellular functions of LRRK2 implicate vesicular trafficking pathways in Parkinson's disease. Biochemical Society transactions\| PubMed ID: 27913668	2016
LRRK2 at the interface of autophagosomes, endosomes and lysosomes. Molecular neurodegeneration\| PubMed ID: 27927216	2016
Novel genetic loci associated with hippocampal volume. Nature communications\| PubMed ID: 28098162	2017
The G2385R risk factor for Parkinson's disease enhances CHIP-dependent intracellular degradation of LRRK2. The Biochemical journal\| PubMed ID: 28320779	2017
Mechanisms of Mutant LRRK2 Neurodegeneration. Advances in neurobiology\| PubMed ID: 28353287	2017
Gene Linkage and Systems Biology. Advances in neurobiology\| PubMed ID: 28674994	2017
The DYT6 Dystonia Protein THAP1 Regulates Myelination within the Oligodendrocyte Lineage. Developmental cell\| PubMed ID: 28697333	2017
Hexokinases link DJ-1 to the PINK1/parkin pathway. Molecular neurodegeneration\| PubMed ID: 28962651	2017
LRRK2 phosphorylates membrane-bound Rabs and is activated by GTP-bound Rab7L1 to promote recruitment to the trans-Golgi network. Human molecular genetics\| PubMed ID: 29177506	2018
Transcriptomic profiling of the human brain reveals that altered synaptic gene expression is associated with chronological aging. Scientific reports\| PubMed ID: 29203886	2017
The LRRK2 signalling system. Cell and tissue research\| PubMed ID: 29308544	2018
The Endosomal-Lysosomal Pathway Is Dysregulated by Expression . Frontiers in neuroscience\| PubMed ID: 29311783	2017
Parkinson disease-associated mutations in LRRK2 cause centrosomal defects via Rab8a phosphorylation. Molecular neurodegeneration\| PubMed ID: 29357897	2018
Comparative Protein Interaction Network Analysis Identifies Shared and Distinct Functions for the Human ROCO Proteins. Proteomics\| PubMed ID: 29513927	2018
mTOR independent alteration in ULK1 Ser758 phosphorylation following chronic LRRK2 kinase inhibition. Bioscience reports\| PubMed ID: 29563162	2018
Detection of endogenous S1292 LRRK2 autophosphorylation in mouse tissue as a readout for kinase activity. NPJ Parkinson's disease\| PubMed ID: 29707617	2018
Frequency of Loss of Function Variants in LRRK2 in Parkinson Disease. JAMA neurology\| PubMed ID: 30039155	2018
Finding useful biomarkers for Parkinson's disease. Science translational medicine\| PubMed ID: 30111645	2018
A comprehensive analysis of SNCA-related genetic risk in sporadic parkinson disease. Annals of neurology\| PubMed ID: 30146727	2018
Converging pathways in neurodegeneration, from genetics to mechanisms. Nature neuroscience\| PubMed ID: 30258237	2018
Differences in Stability, Activity and Mutation Effects Between Human and Mouse Leucine-Rich Repeat Kinase 2. Neurochemical research\| PubMed ID: 30291536	2019
Leucine-rich repeat kinase 2 controls protein kinase A activation state through phosphodiesterase 4. Journal of neuroinflammation\| PubMed ID: 30368241	2018
The role of monogenic genes in idiopathic Parkinson's disease. Neurobiology of disease\| PubMed ID: 30448284	2019
Genetic analysis of neurodegenerative diseases in a pathology cohort. Neurobiology of aging\| PubMed ID: 30528841	2019
The endocytic membrane trafficking pathway plays a major role in the risk of Parkinson's disease. Movement disorders : official journal of the Movement Disorder Society\| PubMed ID: 30675927	2019
Assessment of APOE in atypical parkinsonism syndromes. Neurobiology of disease\| PubMed ID: 30798004	2019
LRRK2 links genetic and sporadic Parkinson's disease. Biochemical Society transactions\| PubMed ID: 30837320	2019
Glial phagocytic clearance in Parkinson's disease. Molecular neurodegeneration\| PubMed ID: 30953527	2019
Proteomics; applications in familial Parkinson's disease. Journal of neurochemistry\| PubMed ID: 31022302	2019
The role of Rab GTPases in the pathobiology of Parkinson' disease. Current opinion in cell biology\| PubMed ID: 31054512	2019
Transcriptome analysis of LRRK2 knock-out microglia cells reveals alterations of inflammatory- and oxidative stress-related pathways upon treatment with α-synuclein fibrils. Neurobiology of disease\| PubMed ID: 31102768	2019
DNAJC proteins and pathways to parkinsonism. The FEBS journal\| PubMed ID: 31120186	2019
Genetic modifiers of risk and age at onset in GBA associated Parkinson's disease and Lewy body dementia. Brain : a journal of neurology\| PubMed ID: 31755958	2020
Molecular mechanism of olesoxime-mediated neuroprotection through targeting α-synuclein interaction with mitochondrial VDAC. Cellular and molecular life sciences : CMLS\| PubMed ID: 31760463	2020
Correction to: Molecular mechanism of olesoxime-mediated neuroprotection through targeting α-synuclein interaction with mitochondrial VDAC. Cellular and molecular life sciences : CMLS\| PubMed ID: 31919572	2020
In Vitro CRISPR/Cas9-Directed Gene Editing to Model LRRK2 G2019S Parkinson's Disease in Common Marmosets. Scientific reports\| PubMed ID: 32103062	2020
APOE4 is Associated with Differential Regional Vulnerability to Bioenergetic Deficits in Aged APOE Mice. Scientific reports\| PubMed ID: 32152337	2020
Pathways of protein synthesis and degradation in PD pathogenesis. Progress in brain research\| PubMed ID: 32247365	2020
The Parkinson's Disease Protein LRRK2 Interacts with the GARP Complex to Promote Retrograde Transport to the trans-Golgi Network. Cell reports\| PubMed ID: 32375042	2020
Can Leucine-Rich Repeat Kinase 2 Inhibition Benefit GBA-Parkinson's Disease? Movement disorders : official journal of the Movement Disorder Society\| PubMed ID: 32415718	2020
Sequential screening nominates the Parkinson's disease associated kinase LRRK2 as a regulator of Clathrin-mediated endocytosis. Neurobiology of disease\| PubMed ID: 32434048	2020
Extracellular clusterin limits the uptake of α-synuclein fibrils by murine and human astrocytes. Glia\| PubMed ID: 33045109	2021
LRRK2 mediates microglial neurotoxicity via NFATc2 in rodent models of synucleinopathies. Science translational medicine\| PubMed ID: 33055242	2020
Divergent Effects of G2019S and R1441C LRRK2 Mutations on LRRK2 and Rab10 Phosphorylations in Mouse Tissues. Cells\| PubMed ID: 33105882	2020
LRRK2 mediates tubulation and vesicle sorting from lysosomes. Science advances\| PubMed ID: 33177079	2020
Combined Knockout of Lrrk2 and Rab29 Does Not Result in Behavioral Abnormalities in vivo. Journal of Parkinson's disease\| PubMed ID: 33523017	2021
Genetic analysis of amyotrophic lateral sclerosis identifies contributing pathways and cell types. Science advances\| PubMed ID: 33523907	2021