Cell Biology and Gene Expression Section
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Pathways to Parkinsonism.
Neuron Jan, 2003 | Pubmed ID: 12526767
Microarray analysis reveals induction of heat shock proteins mRNAs by the torsion dystonia protein, TorsinA.
Neuroscience letters May, 2003 | Pubmed ID: 12749984
Crystallizing ideas about Parkinson's disease.
Proceedings of the National Academy of Sciences of the United States of America Aug, 2003 | Pubmed ID: 12886009
Dominant torsinA mutations in cellular systems.
Advances in neurology , 2004 | Pubmed ID: 14509657
Molecules that cause or prevent Parkinson's disease.
PLoS biology Nov, 2004 | Pubmed ID: 15547643
How genetics research in Parkinson's disease is enhancing understanding of the common idiopathic forms of the disease.
Current opinion in neurology Dec, 2005 | Pubmed ID: 16280683
Dystonia and the nuclear envelope.
Neuron Dec, 2005 | Pubmed ID: 16364891
Proteomic analysis reveals co-ordinated alterations in protein synthesis and degradation pathways in LRRK2 knockout mice.
Human molecular genetics 09, 2018 | Pubmed ID: 29917075
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 Nov, 2006 | Pubmed ID: 17093100
Deletion at ITPR1 underlies ataxia in mice and spinocerebellar ataxia 15 in humans.
PLoS genetics Jun, 2007 | Pubmed ID: 17590087
DYT16, a novel young-onset dystonia-parkinsonism disorder: identification of a segregating mutation in the stress-response protein PRKRA.
The Lancet. Neurology Mar, 2008 | Pubmed ID: 18243799
Post-transcriptional regulation of mRNA associated with DJ-1 in sporadic Parkinson disease.
Neuroscience letters Mar, 2009 | Pubmed ID: 19146923
Leucine-rich repeat kinase 2 mutations and Parkinson's disease: three questions.
ASN neuro Apr, 2009 | Pubmed ID: 19570025
Genome-wide association study reveals genetic risk underlying Parkinson's disease.
Nature genetics Dec, 2009 | Pubmed ID: 19915575
The Parkinson's disease associated LRRK2 exhibits weaker in vitro phosphorylation of 4E-BP compared to autophosphorylation.
PloS one , 2010 | Pubmed ID: 20090955
Deep sequencing of coding and non-coding RNA in the CNS.
Brain research Jun, 2010 | Pubmed ID: 20307502
Parkinson's disease: insights from pathways.
Human molecular genetics Apr, 2010 | Pubmed ID: 20421364
Abundant quantitative trait loci exist for DNA methylation and gene expression in human brain.
PLoS genetics May, 2010 | Pubmed ID: 20485568
DJ-1 acts in parallel to the PINK1/parkin pathway to control mitochondrial function and autophagy.
Human molecular genetics Jan, 2011 | Pubmed ID: 20940149
The role of leucine-rich repeat kinase 2 (LRRK2) in Parkinson's disease.
Nature reviews. Neuroscience Dec, 2010 | Pubmed ID: 21088684
DJ-1 regulation of mitochondrial function and autophagy through oxidative stress.
Autophagy May, 2011 | Pubmed ID: 21317550
Mitochondrial quality control and dynamics in Parkinson's disease.
Antioxidants & redox signaling May, 2012 | Pubmed ID: 21568830
Role of LRRK2 kinase dysfunction in Parkinson disease.
Expert reviews in molecular medicine Jun, 2011 | Pubmed ID: 21676337
Is inhibition of kinase activity the only therapeutic strategy for LRRK2-associated Parkinson's disease?
BMC medicine Feb, 2012 | Pubmed ID: 22361010
Integration of GWAS SNPs and tissue specific expression profiling reveal discrete eQTLs for human traits in blood and brain.
Neurobiology of disease Jul, 2012 | Pubmed ID: 22433082
The G2385R variant of leucine-rich repeat kinase 2 associated with Parkinson's disease is a partial loss-of-function mutation.
The Biochemical journal Aug, 2012 | Pubmed ID: 22612223
Parkinsonism due to mutations in PINK1, parkin, and DJ-1 and oxidative stress and mitochondrial pathways.
Cold Spring Harbor perspectives in medicine Sep, 2012 | Pubmed ID: 22951446
Cell population-specific expression analysis of human cerebellum.
BMC genomics Nov, 2012 | Pubmed ID: 23145530
Age-associated changes in gene expression in human brain and isolated neurons.
Neurobiology of aging Apr, 2013 | Pubmed ID: 23177596
mRNA expression, splicing and editing in the embryonic and adult mouse cerebral cortex.
Nature neuroscience Apr, 2013 | Pubmed ID: 23416452
Age-associated miRNA alterations in skeletal muscle from rhesus monkeys reversed by caloric restriction.
Aging Sep, 2013 | Pubmed ID: 24036467
Genetic comorbidities in Parkinson's disease.
Human molecular genetics Feb, 2014 | Pubmed ID: 24057672
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 Feb, 2014 | Pubmed ID: 24510904
LRRK2: dropping (kinase) inhibitions and seeking an (immune) response.
Journal of neurochemistry Jun, 2014 | Pubmed ID: 24661004
Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosis.
Nature neuroscience May, 2014 | Pubmed ID: 24686783
Post-translational decrease in respiratory chain proteins in the Polg mutator mouse brain.
PloS one , 2014 | Pubmed ID: 24722488
Downregulation of Pink1 influences mitochondrial fusion-fission machinery and sensitizes to neurotoxins in dopaminergic cells.
Neurotoxicology Sep, 2014 | Pubmed ID: 24792327
Differential protein-protein interactions of LRRK1 and LRRK2 indicate roles in distinct cellular signaling pathways.
Journal of neurochemistry Oct, 2014 | Pubmed ID: 24947832
Heterogeneity of leucine-rich repeat kinase 2 mutations: genetics, mechanisms and therapeutic implications.
Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics Oct, 2014 | Pubmed ID: 24957201
Lardy brains make Parkinson's disease mice worse.
Journal of neurochemistry Dec, 2014 | Pubmed ID: 25142063
Genetic variability in the regulation of gene expression in ten regions of the human brain.
Nature neuroscience Oct, 2014 | Pubmed ID: 25174004
Common genetic variants influence human subcortical brain structures.
Nature Apr, 2015 | Pubmed ID: 25607358
Pathways to Parkinsonism Redux: convergent pathobiological mechanisms in genetics of Parkinson's disease.
Human molecular genetics Oct, 2015 | Pubmed ID: 26101198
Genes associated with Parkinson's disease: regulation of autophagy and beyond.
Journal of neurochemistry 10, 2016 | Pubmed ID: 26223426
The Polg Mutator Phenotype Does Not Cause Dopaminergic Neurodegeneration in DJ-1-Deficient Mice.
eNeuro Jan-Feb, 2015 | Pubmed ID: 26464968
ADAR2 affects mRNA coding sequence edits with only modest effects on gene expression or splicing in vivo.
RNA biology , 2016 | Pubmed ID: 26669816
The function of orthologues of the human Parkinson's disease gene LRRK2 across species: implications for disease modelling in preclinical research.
The Biochemical journal Feb, 2016 | Pubmed ID: 26811536
The Effects of Variants in the Parkin, PINK1, and DJ-1 Genes along with Evidence for their Pathogenicity.
Current protein & peptide science , 2017 | Pubmed ID: 26965687
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 07, 2016 | Pubmed ID: 27422551
RNA-binding proteins implicated in neurodegenerative diseases.
Wiley interdisciplinary reviews. RNA 01, 2017 | Pubmed ID: 27659605
Novel genetic loci underlying human intracranial volume identified through genome-wide association.
Nature neuroscience Dec, 2016 | Pubmed ID: 27694991
The impact of fraudulent and irreproducible data to the translational research crisis - solutions and implementation.
Journal of neurochemistry 10, 2016 | Pubmed ID: 27797406
Cellular functions of LRRK2 implicate vesicular trafficking pathways in Parkinson's disease.
Biochemical Society transactions 12, 2016 | Pubmed ID: 27913668
LRRK2 at the interface of autophagosomes, endosomes and lysosomes.
Molecular neurodegeneration 12, 2016 | Pubmed ID: 27927216
Novel genetic loci associated with hippocampal volume.
Nature communications Jan, 2017 | Pubmed ID: 28098162
The G2385R risk factor for Parkinson's disease enhances CHIP-dependent intracellular degradation of LRRK2.
The Biochemical journal 04, 2017 | Pubmed ID: 28320779
Mechanisms of Mutant LRRK2 Neurodegeneration.
Advances in neurobiology , 2017 | Pubmed ID: 28353287
Gene Linkage and Systems Biology.
Advances in neurobiology , 2017 | Pubmed ID: 28674994
The DYT6 Dystonia Protein THAP1 Regulates Myelination within the Oligodendrocyte Lineage.
Developmental cell 07, 2017 | Pubmed ID: 28697333
Hexokinases link DJ-1 to the PINK1/parkin pathway.
Molecular neurodegeneration 09, 2017 | Pubmed ID: 28962651
LRRK2 phosphorylates membrane-bound Rabs and is activated by GTP-bound Rab7L1 to promote recruitment to the trans-Golgi network.
Human molecular genetics 01, 2018 | Pubmed ID: 29177506
Transcriptomic profiling of the human brain reveals that altered synaptic gene expression is associated with chronological aging.
Scientific reports 12, 2017 | Pubmed ID: 29203886
The LRRK2 signalling system.
Cell and tissue research Jul, 2018 | Pubmed ID: 29308544
The Endosomal-Lysosomal Pathway Is Dysregulated by Expression .
Frontiers in neuroscience , 2017 | Pubmed ID: 29311783
Parkinson disease-associated mutations in LRRK2 cause centrosomal defects via Rab8a phosphorylation.
Molecular neurodegeneration 01, 2018 | Pubmed ID: 29357897
Comparative Protein Interaction Network Analysis Identifies Shared and Distinct Functions for the Human ROCO Proteins.
Proteomics May, 2018 | Pubmed ID: 29513927
mTOR independent alteration in ULK1 Ser758 phosphorylation following chronic LRRK2 kinase inhibition.
Bioscience reports Apr, 2018 | Pubmed ID: 29563162
Detection of endogenous S1292 LRRK2 autophosphorylation in mouse tissue as a readout for kinase activity.
NPJ Parkinson's disease , 2018 | Pubmed ID: 29707617
Frequency of Loss of Function Variants in LRRK2 in Parkinson Disease.
JAMA neurology 11, 2018 | Pubmed ID: 30039155
Finding useful biomarkers for Parkinson's disease.
Science translational medicine 08, 2018 | Pubmed ID: 30111645
A comprehensive analysis of SNCA-related genetic risk in sporadic parkinson disease.
Annals of neurology 07, 2018 | Pubmed ID: 30146727
Converging pathways in neurodegeneration, from genetics to mechanisms.
Nature neuroscience 10, 2018 | Pubmed ID: 30258237
Differences in Stability, Activity and Mutation Effects Between Human and Mouse Leucine-Rich Repeat Kinase 2.
Neurochemical research Jun, 2019 | Pubmed ID: 30291536
Leucine-rich repeat kinase 2 controls protein kinase A activation state through phosphodiesterase 4.
Journal of neuroinflammation Oct, 2018 | Pubmed ID: 30368241
The role of monogenic genes in idiopathic Parkinson's disease.
Neurobiology of disease 04, 2019 | Pubmed ID: 30448284
Genetic analysis of neurodegenerative diseases in a pathology cohort.
Neurobiology of aging 04, 2019 | Pubmed ID: 30528841
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 04, 2019 | Pubmed ID: 30675927
Assessment of APOE in atypical parkinsonism syndromes.
Neurobiology of disease 07, 2019 | Pubmed ID: 30798004
LRRK2 links genetic and sporadic Parkinson's disease.
Biochemical Society transactions 04, 2019 | Pubmed ID: 30837320
Glial phagocytic clearance in Parkinson's disease.
Molecular neurodegeneration 04, 2019 | Pubmed ID: 30953527
Proteomics; applications in familial Parkinson's disease.
Journal of neurochemistry 11, 2019 | Pubmed ID: 31022302
The role of Rab GTPases in the pathobiology of Parkinson' disease.
Current opinion in cell biology 08, 2019 | Pubmed ID: 31054512
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 09, 2019 | Pubmed ID: 31102768
DNAJC proteins and pathways to parkinsonism.
The FEBS journal 08, 2019 | Pubmed ID: 31120186
Genetic modifiers of risk and age at onset in GBA associated Parkinson's disease and Lewy body dementia.
Brain : a journal of neurology 01, 2020 | Pubmed ID: 31755958
Molecular mechanism of olesoxime-mediated neuroprotection through targeting α-synuclein interaction with mitochondrial VDAC.
Cellular and molecular life sciences : CMLS Sep, 2020 | Pubmed ID: 31760463
Correction to: Molecular mechanism of olesoxime-mediated neuroprotection through targeting α-synuclein interaction with mitochondrial VDAC.
Cellular and molecular life sciences : CMLS 09, 2020 | Pubmed ID: 31919572
In Vitro CRISPR/Cas9-Directed Gene Editing to Model LRRK2 G2019S Parkinson's Disease in Common Marmosets.
Scientific reports 02, 2020 | Pubmed ID: 32103062
APOE4 is Associated with Differential Regional Vulnerability to Bioenergetic Deficits in Aged APOE Mice.
Scientific reports 03, 2020 | Pubmed ID: 32152337
Pathways of protein synthesis and degradation in PD pathogenesis.
Progress in brain research , 2020 | Pubmed ID: 32247365
The Parkinson's Disease Protein LRRK2 Interacts with the GARP Complex to Promote Retrograde Transport to the trans-Golgi Network.
Cell reports 05, 2020 | Pubmed ID: 32375042
Can Leucine-Rich Repeat Kinase 2 Inhibition Benefit GBA-Parkinson's Disease?
Movement disorders : official journal of the Movement Disorder Society 05, 2020 | Pubmed ID: 32415718
Sequential screening nominates the Parkinson's disease associated kinase LRRK2 as a regulator of Clathrin-mediated endocytosis.
Neurobiology of disease 07, 2020 | Pubmed ID: 32434048
Extracellular clusterin limits the uptake of α-synuclein fibrils by murine and human astrocytes.
Glia Mar, 2021 | Pubmed ID: 33045109
LRRK2 mediates microglial neurotoxicity via NFATc2 in rodent models of synucleinopathies.
Science translational medicine Oct, 2020 | Pubmed ID: 33055242
Divergent Effects of G2019S and R1441C LRRK2 Mutations on LRRK2 and Rab10 Phosphorylations in Mouse Tissues.
Cells 10, 2020 | Pubmed ID: 33105882
LRRK2 mediates tubulation and vesicle sorting from lysosomes.
Science advances Nov, 2020 | Pubmed ID: 33177079
Combined Knockout of Lrrk2 and Rab29 Does Not Result in Behavioral Abnormalities in vivo.
Journal of Parkinson's disease Jan, 2021 | Pubmed ID: 33523017
Genetic analysis of amyotrophic lateral sclerosis identifies contributing pathways and cell types.
Science advances Jan, 2021 | Pubmed ID: 33523907
Natalie Landeck1,
Melissa Conti Mazza1,
Megan Duffy1,
Christopher Bishop2,
Caryl E. Sortwell3,
Mark R. Cookson1
1Cell Biology and Gene Expression Section, National Institute on Aging, National Institutes of Health,
2Behavioral Neuroscience Program, Department of Psychology, Binghamton University,
3Department of Translational Neuroscience, Mercy Health Hauenstein Neuroscience Medical Center, Michigan State University