0000000000765574

AUTHOR

Javier Simón-sánchez

0000-0001-5141-5829

showing 2 related works from this author

LRRK2 is expressed in areas affected by Parkinson's disease in the adult mouse brain.

2006

The leucine-rich repeat kinase 2 (LRRK2) gene was recently found to have multiple mutations that are causative for autosomal dominant inherited Parkinson's disease (PD). Previously, we used Northern blot analysis to show that this gene was expressed in the cerebellum, cerebral cortex, medulla, spinal cord, occipital pole, frontal lobe, temporal lobe and caudate putamen. However, a more comprehensive map of LRRK2 mRNA localization in the central nervous system is still lacking. In this study we have mapped the distribution of the mRNA encoding for LRRK2 using nonradioactive in situ hybridization. We detected a moderate expression of this PD-related gene throughout the adult B2B6 mouse brain.…

Cingulate cortexMaleCerebellumGene ExpressionSubstantia nigraHippocampal formationBiologyProtein Serine-Threonine KinasesLeucine-Rich Repeat Serine-Threonine Protein Kinase-2Temporal lobeMicePiriform cortexmedicineAnimalsRNA MessengerIn Situ HybridizationBrain MappingGeneral NeuroscienceBrainParkinson Diseasenervous system diseasesDisease Models Animalmedicine.anatomical_structurenervous systemFrontal lobeCerebral cortexNeuroscienceThe European journal of neuroscience
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Genome-wide meta-analysis identifies six novel loci associated with habitual coffee consumption

2015

Contains fulltext : 155360.pdf (Publisher’s version ) (Closed access) Coffee, a major dietary source of caffeine, is among the most widely consumed beverages in the world and has received considerable attention regarding health risks and benefits. We conducted a genome-wide (GW) meta-analysis of predominately regular-type coffee consumption (cups per day) among up to 91,462 coffee consumers of European ancestry with top single-nucleotide polymorphisms (SNPs) followed-up in ~30 062 and 7964 coffee consumers of European and African-American ancestry, respectively. Studies from both stages were combined in a trans-ethnic meta-analysis. Confirmed loci were examined for putative functional and b…

INVOLVEMENTNetherlands Twin Register (NTR)GCKR protein humanPROTEINGenome-wide association studyVARIANTSgenetics [Brain-Derived Neurotrophic Factor]chemistry.chemical_compound0302 clinical medicinePolymorphism (computer science)genetics [Adaptor Proteins Signal Transducing]BINDINGBRAINGenetics0303 health sciencesBasic Helix-Loop-Helix Leucine Zipper Transcription FactorsDisorders of movement Donders Center for Medical Neuroscience [Radboudumc 3]3. Good healthPsychiatry and Mental healthPhenotypegenetics [Polymorphism Single Nucleotide]/dk/atira/pure/sustainabledevelopmentgoals/good_health_and_well_beinggenetics [Cytochrome P-450 CYP1A2]CaffeineCAFFEINESingle-nucleotide polymorphismBiologyArticle03 medical and health sciencesCellular and Molecular NeuroscienceSDG 3 - Good Health and Well-beingCytochrome P-450 CYP1A2/dk/atira/pure/keywords/cohort_studies/netherlands_twin_register_ntr_SNPHumansddc:610Allelegenetics [Basic Helix-Loop-Helix Leucine Zipper Transcription Factors]Molecular Biology030304 developmental biologyAdaptor Proteins Signal TransducingMLXIPL protein humanRECEPTORBrain-Derived Neurotrophic FactorCoffeata1182Feeding Behaviorbiology.organism_classificationta3124BDNFchemistryBehavioral medicineDevelopmental Psychopathology030217 neurology & neurosurgeryGLUCOKINASEmetabolism [Coffea]Genome-Wide Association StudyMolecular Psychiatry
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