0000000001088413

AUTHOR

Rejko Krüger

showing 5 related works from this author

A multi-centre clinico-genetic analysis of the VPS35 gene in Parkinson disease indicates reduced penetrance for disease-associated variants

2012

Abstract: Background Two recent studies identified a mutation (p.Asp620Asn) in the vacuolar protein sorting 35 gene as a cause for an autosomal dominant form of Parkinson disease. Although additional missense variants were described, their pathogenic role yet remains inconclusive. Methods and results We performed the largest multi-center study to ascertain the frequency and pathogenicity of the reported vacuolar protein sorting 35 gene variants in more than 15,000 individuals worldwide. p.Asp620Asn was detected in 5 familial and 2 sporadic PD cases and not in healthy controls, p.Leu774Met in 6 cases and 1 control, p.Gly51Ser in 3 cases and 2 controls. Overall analyses did not reveal any sig…

MaleParkinson's diseasePopulationVesicular Transport ProteinsLocus (genetics)DiseaseBiologyVPS35 protein humanBioinformaticsgenetics [Vesicular Transport Proteins]genetics [Parkinson Disease]Risk Factorsmedicinemetabolism [Vesicular Transport Proteins]GeneticsMissense mutationVPS35 GeneHumansGenetic epidemiologyGenetic Predisposition to Diseaseddc:6101506Genome-wideeducationGenetics (clinical)Genetic Association StudiesGeneticsVacuolar protein sortingeducation.field_of_studyGenotype-Phenotype CorrelationsParkinson DiseaseComplex traitsmedicine.diseasePenetranceddc:MutationFemaleHuman medicineParkinson-s diseaseJournal of Medical Genetics
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Autophagy

2012

Klionsky, Daniel J. et al.

autophagy assays[SDV]Life Sciences [q-bio]AutolysosomeAutophagosome maturationautophagosomeBioinformaticsstressChaperone-mediated autophagyModelsLC3MESH: Animalsguidelinesautolysosome autophagosome flux LC3 lysosome phagophore stress vacuoleSettore BIO/06 - Anatomia Comparata E CitologiaComputingMilieux_MISCELLANEOUSSettore BIO/17Autophagy databaseautolysosome3. Good healthddc:540lysosomeEnergy and redox metabolism Mitochondrial medicine [NCMLS 4]methods [Biological Assay]Biological AssaySettore BIO/17 - ISTOLOGIANeuroniMAP1LC3BHumanautophagygenetics [Autophagy]AutofagiaMESH: Autophagy*/genetics[SDV.BC]Life Sciences [q-bio]/Cellular BiologyAutofagia; Neuroni; istologiaBiologyModels BiologicalLC3; autolysosome; autophagosome; flux; lysosome; phagophore; stress; vacuoleddc:570AutophagyAnimalsHumansAutophagy-Related Protein 7[SDV.BC] Life Sciences [q-bio]/Cellular BiologyBiological Assay/methodsMolecular BiologyBiologyAutophagy; guidelines; autophagy assaysistologiaphagophoreMESH: HumansAnimals; Biological Assay; Humans; Models Biological; AutophagyvacuoleAnimal[ SDV.BC ] Life Sciences [q-bio]/Cellular BiologyMESH: Models BiologicalPathogenesis and modulation of inflammation Infection and autoimmunity [N4i 1]Cell BiologyBiologicalAutophagy/geneticsfluxAutophagosome membraneAutophagy Protein 5Human medicineMESH: Biological Assay/methods*Neuroscienceautolysosome; autophagosome; flux; LC3; lysosome; phagophore; stress; vacuoleAutophagy
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Erratum

2016

Author(s): Klionsky, DJ; Abdelmohsen, K; Abe, A; Abedin, MJ; Abeliovich, H; Arozena, AA; Adachi, H; Adams, CM; Adams, PD; Adeli, K; Adhihetty, PJ; Adler, SG; Agam, G; Agarwal, R; Aghi, MK; Agnello, M; Agostinis, P; Aguilar, PV; Aguirre-Ghiso, J; Airoldi, EM; Ait-Si-Ali, S; Akematsu, T; Akporiaye, ET; Al-Rubeai, M; Albaiceta, GM; Albanese, C; Albani, D; Albert, ML; Aldudo, J; Algul, H; Alirezaei, M; Alloza, I; Almasan, A; Almonte-Beceril, M; Alnemri, ES; Alonso, C; Altan-Bonnet, N; Altieri, DC; Alvarez, S; Alvarez-Erviti, L; Alves, S; Amadoro, G; Amano, A; Amantini, C; Ambrosio, S; Amelio, I; Amer, AO; Amessou, M; Amon, A; An, Z; Anania, FA; Andersen, SU; Andley, UP; Andreadi, CK; Andrieu-Ab…

0301 basic medicineSettore BIO/06biologyCell Biology[SDV.BC]Life Sciences [q-bio]/Cellular Biologybiology.organism_classificationCell biologyInterpretation (model theory)03 medical and health sciencesArama030104 developmental biologyMolecular BiologyHumanitiesComputingMilieux_MISCELLANEOUS
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The NG2 Proteoglycan Protects Oligodendrocyte Precursor Cells against Oxidative Stress via Interaction with OMI/HtrA2.

2015

The NG2 proteoglycan is characteristically expressed by oligodendrocyte progenitor cells (OPC) and also by aggressive brain tumours highly resistant to chemo- and radiation therapy. Oligodendrocyte-lineage cells are particularly sensitive to stress resulting in cell death in white matter after hypoxic or ischemic insults of premature infants and destruction of OPC in some types of Multiple Sclerosis lesions. Here we show that the NG2 proteoglycan binds OMI/HtrA2, a mitochondrial serine protease which is released from damaged mitochondria into the cytosol in response to stress. In the cytosol, OMI/HtrA2 initiates apoptosis by proteolytic degradation of anti-apoptotic factors. OPC in which NG…

lcsh:MedicineApoptosisdrug effects [Cytosol]HTRA2 protein humangenetics [RNA Small Interfering]genetics [Serine Endopeptidases]genetics [Glioblastoma]570 Life sciencespathology [Glioblastoma]MiceCytosolCerebellumpathology [Cerebellum]RNA Small Interferinglcsh:Sciencemetabolism [Antigens]Mice Knockoutchondroitin sulfate proteoglycan 4metabolism [Proteoglycans]Brain NeoplasmsSerine Endopeptidasesdrug effects [Mitochondria]metabolism [Cerebellum]High-Temperature Requirement A Serine Peptidase 2Mitochondriametabolism [Brain Neoplasms]Gene Expression Regulation Neoplasticpharmacology [Antibodies Neutralizing]genetics [Mitochondrial Proteins]Proteoglycans570 BiowissenschaftenResearch ArticleProtein BindingSignal Transductionpathology [Brain Neoplasms]Primary Cell Culturedrug effects [Cerebellum]drug effects [Apoptosis]metabolism [Mitochondrial Proteins]Mitochondrial Proteinsantagonists & inhibitors [Proteoglycans]pharmacology [Hydrogen Peroxide]genetics [Antigens]Cell Line Tumormetabolism [Serine Endopeptidases]AnimalsHumansddc:610metabolism [RNA Small Interfering]Antigenslcsh:RHtra2 protein mouseHydrogen Peroxidemetabolism [Mitochondria]Antibodies Neutralizinggenetics [Proteoglycans]genetics [Brain Neoplasms]Mice Inbred C57BLOxidative Stressnervous systemlcsh:Qmetabolism [Cytosol]Glioblastomametabolism [Glioblastoma]
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Large-scale replication and heterogeneity in Parkinson disease genetic loci

2012

Objective: Eleven genetic loci have reached genome-wide significance in a recent meta-analysis of genome-wide association studies in Parkinson disease (PD) based on populations of Caucasian descent. The extent to which these genetic effects are consistent across different populations is unknown. Methods: Investigators from the Genetic Epidemiology of Parkinson9s Disease Consortium were invited to participate in the study. A total of 11 SNPs were genotyped in 8,750 cases and 8,955 controls. Fixed as well as random effects models were used to provide the summary risk estimates for these variants. We evaluated between-study heterogeneity and heterogeneity between populations of different ances…

MaleGenotypeSingle-nucleotide polymorphismGenome-wide association studyCase-control studiesBiologyPolymorphism Single NucleotideGene Frequencygenetics [Parkinson Disease]HumansGenetic Predisposition to Diseaseddc:610AlleleParkinson Disease/geneticsAllele frequencyAllelesGenetic associationAgedGeneticsMedicine(all)Case-control studyParkinson DiseaseOdds ratioMiddle Agedddc:616.8Genetic epidemiologyGenetic LociCase-Control StudiesFemaleNeurology (clinical)Human medicineGenome-Wide Association Study
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