2020
Fronto-temporal dementia risk gene TMEM106B has opposing effects in different lysosomal storage disorders
Perez-Canamas A, Takahashi H, Lindborg JA, Strittmatter SM. Fronto-temporal dementia risk gene TMEM106B has opposing effects in different lysosomal storage disorders. Brain Communications 2020, 3: fcaa200. PMID: 33796852, PMCID: PMC7990118, DOI: 10.1093/braincomms/fcaa200.Peer-Reviewed Original ResearchNeuronal ceroid lipofuscinosisLysosomal compartmentGenome-wide association studiesCeroid lipofuscinosisGaucher diseaseLysosomal storage disorderEndo-lysosomal compartmentsTransmembrane proteinStorage disorderVacuolar ATPaseNull phenotypeATPase stateFrontotemporal lobar degenerationAssociation studiesConduritol B epoxidePurkinje cell degenerationLysosomal acidificationMouse phenotypeNeurodegenerative lysosomal diseaseDifferent lysosomal storage disordersTMEM106BNeuronal lossMotor deficitsNeuronal degenerationPhenotype
2017
Loss of TMEM106B Ameliorates Lysosomal and Frontotemporal Dementia-Related Phenotypes in Progranulin-Deficient Mice
Klein ZA, Takahashi H, Ma M, Stagi M, Zhou M, Lam TT, Strittmatter SM. Loss of TMEM106B Ameliorates Lysosomal and Frontotemporal Dementia-Related Phenotypes in Progranulin-Deficient Mice. Neuron 2017, 95: 281-296.e6. PMID: 28728022, PMCID: PMC5558861, DOI: 10.1016/j.neuron.2017.06.026.Peer-Reviewed Original ResearchConceptsLysosomal protein levelsFrontotemporal lobar degenerationProtein levelsMultiple lysosomal enzymesLysosomal enzymesV0 subunitsTMEM106B geneProteomic analysisProgranulin-deficient miceExtent of neurodegenerationCommon neurodegenerative disorderLysosomal acidificationLysosomal enzyme levelsProtein 1Microglial accumulationRisk modificationFTLD riskBehavioral abnormalitiesRetinal degenerationNeurodegenerative disordersFrontotemporal dementiaGRNTMEM106BFunctional relationshipEnzyme levels