2023
Exploring therapeutic strategies for infantile neuronal axonal dystrophy (INAD/PARK14)
Lin G, Tepe B, McGrane G, Tipon R, Croft G, Panwala L, Hope A, Liang A, Zuo Z, Byeon S, Wang L, Pandey A, Bellen H. Exploring therapeutic strategies for infantile neuronal axonal dystrophy (INAD/PARK14). ELife 2023, 12: e82555. PMID: 36645408, PMCID: PMC9889087, DOI: 10.7554/elife.82555.Peer-Reviewed Original ResearchConceptsPatient-derived neural progenitor cellsNeural progenitor cellsPatient-derived neuronsPediatric neurodegenerative disorderRetromer functionMitochondrial morphologyEndolysosomal pathwayMitochondrial defectsProlong lifespanNeurodegenerative phenotypeProgenitor cellsMouse modelRecessive variantsNeurodegenerative disordersGene therapy approachesPathwayInfantile neuroaxonal dystrophyHomologCellsTherapeutic strategiesAzoramidePurkinje cellsFliesPhenotypeMetabolism
2020
Retromer subunit, VPS29, regulates synaptic transmission and is required for endolysosomal function in the aging brain
Ye H, Ojelade S, Li-Kroeger D, Zuo Z, Wang L, Li Y, Gu J, Tepass U, Rodal A, Bellen H, Shulman J. Retromer subunit, VPS29, regulates synaptic transmission and is required for endolysosomal function in the aging brain. ELife 2020, 9: e51977. PMID: 32286230, PMCID: PMC7182434, DOI: 10.7554/elife.51977.Peer-Reviewed Original ResearchConceptsRetromer functionRetromer localizationVps26 proteinsRetromer subunitsRab7 GTPaseProtein complexesEndolysosomal functionEndolysosomal pathwayLysosomal stressVPS29Endolysosomal dysfunctionSynaptic transmissionSubstrate clearanceRetromerGTPaseProteinVPS35Adult brainBrain homeostasisAlzheimer's diseaseTBC1D5Vps26Ultrastructural evidenceEmbryogenesisMutants