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Research
Publications
2026
Amyloid precursor protein ortholog Appl acts with Vnd during mushroom body axon growth in Drosophila
Marquilly C, Busto G, Pasquer L, Zinzen R, Hassan B, Fradkin L, Preat T, Boulanger A, Dura J. Amyloid precursor protein ortholog Appl acts with Vnd during mushroom body axon growth in Drosophila. Genetics 2026, iyag112. PMID: 42213044, DOI: 10.1093/genetics/iyag112.Peer-Reviewed Original ResearchAmyloid precursor proteinMushroom bodiesNull allelesAxonal outgrowthAssociated with Alzheimer's diseaseNon-cell-autonomouslyOlfactory memory centerCRISPR/Cas9 genome engineeringGenome engineeringPrecursor proteinDevelopmental defectsAllelesNormal functionAlzheimer's diseaseAdult stageAssociation of odorsAmyloidComplete lackLoss of memoryAxonal growthFliesOutgrowthMemory defectsDrosophilaOrthologsBuilding brains, shaping behaviors: How developmental approaches illuminate the analysis of circuits and behavior
Chrzanowska A, Hassan B. Building brains, shaping behaviors: How developmental approaches illuminate the analysis of circuits and behavior. Current Opinion In Neurobiology 2026, 99: 103203. PMID: 42013558, DOI: 10.1016/j.conb.2026.103203.Peer-Reviewed Original ResearchVariants in the proteasome regulator PSMF1 cause a phenotypic spectrum from parkinsonism to perinatal lethality
Magrinelli F, Tesson C, Angelova P, Rodriguez J, Scardamaglia A, O’Callaghan B, Lowe S, Salazar-Villacorta A, Chung B, Jaconelli M, Vona B, Esteras N, Mammana A, Shimazu J, Kwong A, Courtin T, Alavi S, Maroofian R, Nirujogi R, Severino M, Monfrini E, Rocca C, Lewis P, Efthymiou S, Buchert R, Sofan L, Lis P, Pinon C, Breedveld G, Chui M, Murphy D, Pitz V, Makarious M, Baiardi S, Volin M, Cassar M, Hassan B, Iftikhar S, Bauer P, Tinazzi M, Svetel M, Samanci B, Hanağası H, Bilgiç B, Cavallieri F, Santangelo M, Obeso J, Kurtis M, Cogan G, Kiziltan G, Gül-Demirkale T, Tireli H, Yüksel G, Yalçın-Cakmakli G, Elibol B, Barišić N, Ng E, Fan S, Hershkovitz T, Weiss K, Alvi J, Sultan T, Alkhawaja I, Froukh T, Alrukban H, Anjum M, Saeed A, Cheema H, Fauth C, Schatz U, Zöggeler T, Zech M, Stals K, Varghese V, Gandhi S, Blauwendraat C, Hardy J, Di Fonzo A, Bonifati V, Haack T, Bertoli-Avella A, Lesage S, Başak A, Steinfeld R, Parchi P, Jepson J, Alessi D, Brice A, Steller H, Abramov A, Bhatia K, Houlden H. Variants in the proteasome regulator PSMF1 cause a phenotypic spectrum from parkinsonism to perinatal lethality. Nature Communications 2026 PMID: 41986367, DOI: 10.1038/s41467-026-71351-w.Peer-Reviewed Original ResearchAlteration of mitochondrial membrane potentialDissecting biological pathwaysLoss-of-function variantsPathogenesis of Parkinson's diseasePerinatal lethalityMitochondrial membrane depolarizationMitochondrial membrane potentialPatient-derived fibroblastsValosin-containing proteinGenotype-phenotype correlationProteasome abundanceGene discoveryEarly-onset parkinsonismAged fliesAge-dependent motor impairmentLoss of functionAssociated with alterationsPSMF1Biological pathwaysChildhood neurodegenerationMitochondrial dysfunctionProteasomeMouse modelPhenotypic spectrumIdentification of potential biomarkers
2025
Heterozygous pathogenic variants in the splicing factor SF1 lead to a large spectrum of neurodevelopmental disorders
Bou-Rouphael J, Cospain A, Courtin T, Keren B, Marie C, Lesieur-Sebellin M, Heron D, de Sainte Agathe J, Heide S, Lejeune E, Quelin C, Lecoquierre F, Nizon M, Isidor B, Besnard T, Cogne B, Latypova X, Levy J, Joset P, Steindl K, Palomares-Bralo M, Santos-Simarro F, Thomas M, Abubakar A, Lynch S, Müller A, Haack T, Zenker M, Parker M, Clossick E, Spiller M, Crookes R, Holder-Espinasse M, Bayat A, Møller R, Mieszczanek T, de la Grange P, Buratti J, Marijon P, Ataf S, Gavin R, Parras C, Hassan B, Mignot C, El Khattabi L. Heterozygous pathogenic variants in the splicing factor SF1 lead to a large spectrum of neurodevelopmental disorders. American Journal Of Human Genetics 2025, 112: 2605-2624. PMID: 40987292, PMCID: PMC12808962, DOI: 10.1016/j.ajhg.2025.09.001.Peer-Reviewed Original ResearchConceptsSplicing factor 1Neurodevelopmental disordersAlternative splicingRegulate alternative splicingPre-mRNA processingDysregulation of splicingEarly spliceosome assemblyHeterozygous pathogenic variantsNervous system complexitySpectrum of neurodevelopmental disordersSpliceosome assemblyNon-specific featuresSplice siteSplicing programUnrelated individualsAutistic traitsNeural progenitor cellsPathogenic variantsSplicingAxon guidanceGene expressionHeterozygous variantsFunctional studiesDe novoProgenitor cellsTemporal transcriptional regulation of mitochondrial morphology primes activity-dependent circuit connectivity
Mohylyak I, Andriatsilavo M, Bengochea M, Pascual-Caro C, Asfogo N, Fonseca-Topp S, Danda N, Cassar M, Marie C, Atak Z, De Waegeneer M, Aerts S, Corti O, de Juan-Sanz J, Hassan B. Temporal transcriptional regulation of mitochondrial morphology primes activity-dependent circuit connectivity. Nature Communications 2025, 16: 8173. PMID: 40890095, PMCID: PMC12402207, DOI: 10.1038/s41467-025-62908-2.Peer-Reviewed Original ResearchConceptsMitochondrial morphologyRegulation of mitochondrial morphologyMitochondrial quality control genesTemporal transcriptional regulationDevelopmental transcription factorsNeuronal cell biologyFunctional homologyTranscriptional regulationOrganelle structureGenetic screeningConservation aspectsTranscription factorsControl genesMitochondrial functionDevelopmental programPINK1 expressionCell biologyPINK1Axonal organellesNeurotransmitter releaseHippocampal neuronsSynaptic connectionsDevelopmental downregulationLocal regulationNeuronal connectivitySequential and independent probabilistic events regulate differential axon targeting during development in Drosophila melanogaster
Andriatsilavo M, Barata C, Reifenstein E, Dumoulin A, Tao Griffin T, Dutta S, Stoeckli E, von Kleist M, Hiesinger P, Hassan B. Sequential and independent probabilistic events regulate differential axon targeting during development in Drosophila melanogaster. Nature Neuroscience 2025, 28: 998-1011. PMID: 40335773, DOI: 10.1038/s41593-025-01937-y.Peer-Reviewed Original ResearchToward a probabilistic definition of neural cell types
Andriatsilavo M, Hassan B. Toward a probabilistic definition of neural cell types. Current Opinion In Neurobiology 2025, 92: 103035. PMID: 40334296, DOI: 10.1016/j.conb.2025.103035.Peer-Reviewed Reviews, Practice Guidelines, Standards, and Consensus StatementsAuthor Correction: Pharmacogenomic screening identifies and repurposes leucovorin and dyclonine as pro-oligodendrogenic compounds in brain repair
Huré J, Foucault L, Ghayad L, Marie C, Vachoud N, Baudouin L, Azmani R, Ivljanin N, Arevalo-Nuevo A, Pigache M, Bouslama-Oueghlani L, Chemelle J, Dronne M, Terreux R, Hassan B, Gueyffier F, Raineteau O, Parras C. Author Correction: Pharmacogenomic screening identifies and repurposes leucovorin and dyclonine as pro-oligodendrogenic compounds in brain repair. Nature Communications 2025, 16: 538. PMID: 39788999, PMCID: PMC11717921, DOI: 10.1038/s41467-025-55864-4.Commentaries, Editorials and Letters
2024
Pharmacogenomic screening identifies and repurposes leucovorin and dyclonine as pro-oligodendrogenic compounds in brain repair
Huré J, Foucault L, Ghayad L, Marie C, Vachoud N, Baudouin L, Azmani R, Ivljanin N, Arevalo-Nuevo A, Pigache M, Bouslama-Oueghlani L, Chemelle J, Dronne M, Terreux R, Hassan B, Gueyffier F, Raineteau O, Parras C. Pharmacogenomic screening identifies and repurposes leucovorin and dyclonine as pro-oligodendrogenic compounds in brain repair. Nature Communications 2024, 15: 9837. PMID: 39537633, PMCID: PMC11561360, DOI: 10.1038/s41467-024-54003-9.Peer-Reviewed Original ResearchMeSH KeywordsAnimalsAnimals, NewbornBrainBrain InjuriesCell DifferentiationCell ProliferationDisease Models, AnimalDrug RepositioningFemaleHumansLeucovorinMaleMiceMice, Inbred C57BLMicrogliaMultiple SclerosisMyelin SheathNeural Stem CellsOligodendrocyte Precursor CellsOligodendrogliaPharmacogenomic TestingRemyelinationConceptsOligodendrocyte progenitor cellsIn Vivo Mouse ModelMultiple sclerosisOligodendrocyte progenitor cell differentiationMyelin debris clearanceProgenitor cell proliferationNeural progenitor cell proliferationPharmacogenomic screeningPharmacogenomic approachLeucovorinProgenitor cellsClinical trialsMyelin disordersMouse modelPro-inflammatoryEffective treatmentBrain repairTherapeutic avenuesCerebellar explantsCell proliferationLesion repairIn vitroDebris clearanceMyelin formationTranscriptional programsTiming neurogenesis: a clock or an algorithm?
Pigeon J, Hassan B. Timing neurogenesis: a clock or an algorithm? Current Opinion In Genetics & Development 2024, 85: 102156. PMID: 38354530, DOI: 10.1016/j.gde.2024.102156.Peer-Reviewed Reviews, Practice Guidelines, Standards, and Consensus Statements