0000000001088359

AUTHOR

Enza Maria Valente

showing 5 related works from this author

Mutation ofPOC1Bin a Severe Syndromic Retinal Ciliopathy

2014

We describe a consanguineous Iraqi family with Leber congenital amaurosis (LCA), Joubert syndrome (JBTS), and polycystic kidney disease (PKD). Targeted next-generation sequencing for excluding mutations in known LCA and JBTS genes, homozygosity mapping, and whole-exome sequencing identified a homozygous missense variant, c.317G>C (p.Arg106Pro), in POC1B, a gene essential for ciliogenesis, basal body, and centrosome integrity. In silico modeling suggested a requirement of p.Arg106 for the formation of the third WD40 repeat and a protein interaction interface. In human and mouse retina, POC1B localized to the basal body and centriole adjacent to the connecting cilium of photoreceptors and in …

MaleRetinal degenerationgenetic structuresAmino Acid MotifsLeber Congenital AmaurosisMolecular Sequence DataCell Cycle ProteinsBiologyKidneyArticleRetinaJoubert syndromeMiceCerebellar DiseasesCerebellumCiliogenesisRetinitis pigmentosaGeneticsmedicineAnimalsHumansAbnormalities MultipleAmino Acid SequenceCiliaEye AbnormalitiesChildZebrafishGenetics (clinical)Cystic kidneyGeneticsCiliumKidney Diseases Cysticmedicine.diseaseDisease gene identificationeye diseasesPedigreeCiliopathyGene Knockdown TechniquesIraqMutationsense organsHuman Mutation
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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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Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition)

2016

Seuls les 100 premiers auteurs dont les auteurs INRA ont été entrés dans la notice. La liste complète des auteurs et de leurs affiliations est accessible sur la publication.; International audience; In 2008 we published the first set of guidelines for standardizing research in autophagy. Since then, research on this topic has continued to accelerate, and many new scientists have entered the field. Our knowledge base and relevant new technologies have also been expanding. Accordingly, it is important to update these guidelines for monitoring autophagy in different organisms. Various reviews have described the range of assays that have been used for this purpose. Nevertheless, there continues…

[SDV]Life Sciences [q-bio]autophagosomeReview Articleddc:616.07stressstreLC3MESH: AnimalsSettore MED/49 - Scienze Tecniche Dietetiche ApplicateSettore BIO/06 - Anatomia Comparata E Citologiachaperone-mediated autophagyComputingMilieux_MISCELLANEOUSSettore BIO/11Pharmacology. TherapySettore BIO/13standards [Biological Assay]autolysosomeMESH: Autophagy*/physiologylysosomemethods [Biological Assay]Biological AssaySettore BIO/17 - ISTOLOGIAErratumHumanBiochemistry & Molecular BiologySettore BIO/06physiology [Autophagy]Chaperonemediated autophagy[SDV.BC]Life Sciences [q-bio]/Cellular BiologyNOautophagy guidelines molecular biology ultrastructureautolysosome; autophagosome; chaperone-mediated autophagy; flux; LC3; lysosome; macroautophagy; phagophore; stress; vacuoleMESH: Biological Assay/methodsMESH: Computer Simulationddc:570Autolysosome Autophagosome Chaperonemediated autophagy Flux LC3 Lysosome Macroautophagy Phagophore Stress VacuoleAutophagyAnimalsHumansComputer SimulationSettore BIO/10ddc:612BiologyphagophoreMESH: HumansvacuoleAnimalLC3; autolysosome; autophagosome; chaperone-mediated autophagy; flux; lysosome; macroautophagy; phagophore; stress; vacuole; Animals; Biological Assay; Computer Simulation; Humans; Autophagy0601 Biochemistry And Cell BiologyfluxmacroautophagyMESH: Biological Assay/standards*Human medicineLC3; autolysosome; autophagosome; chaperone-mediated autophagy; flux; lysosome; macroautophagy; phagophore; stress; vacuole
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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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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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