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