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2. NPC1 deficiency impairs cerebellar postnatal development of microglia and climbing fiber refinement in a mouse model of Niemann-Pick disease type C. Boyle BR; Melli SE; Altreche RS; Padron ZM; Yousufzai FAK; Kim S; Vasquez MD; Carone DM; Carone BR; Soto I Development; 2020 Aug; 147(21):. PubMed ID: 32611604 [TBL] [Abstract][Full Text] [Related]
3. In Niemann-Pick C1 mouse models, glial-only expression of the normal gene extends survival much further than do changes in genetic background or treatment with hydroxypropyl-beta-cyclodextrin. Marshall CA; Watkins-Chow DE; Palladino G; Deutsch G; Chandran K; Pavan WJ; Erickson RP Gene; 2018 Feb; 643():117-123. PubMed ID: 29223359 [TBL] [Abstract][Full Text] [Related]
4. A marked paucity of granule cells in the developing cerebellum of the Npc1(-/-) mouse is corrected by a single injection of hydroxypropyl-β-cyclodextrin. Nusca S; Canterini S; Palladino G; Bruno F; Mangia F; Erickson RP; Fiorenza MT Neurobiol Dis; 2014 Oct; 70():117-26. PubMed ID: 24969023 [TBL] [Abstract][Full Text] [Related]
6. A novel mouse model of Niemann-Pick type C disease carrying a D1005G-Npc1 mutation comparable to commonly observed human mutations. Maue RA; Burgess RW; Wang B; Wooley CM; Seburn KL; Vanier MT; Rogers MA; Chang CC; Chang TY; Harris BT; Graber DJ; Penatti CA; Porter DM; Szwergold BS; Henderson LP; Totenhagen JW; Trouard TP; Borbon IA; Erickson RP Hum Mol Genet; 2012 Feb; 21(4):730-50. PubMed ID: 22048958 [TBL] [Abstract][Full Text] [Related]
7. Reduction of glutamate neurotoxicity: A novel therapeutic approach for Niemann-Pick disease, type C1. Cougnoux A; Yerger JC; Fellmeth M; Serra-Vinardell J; Navid F; Wassif CA; Cawley NX; Porter FD Mol Genet Metab; 2021 Dec; 134(4):330-336. PubMed ID: 34802899 [TBL] [Abstract][Full Text] [Related]
8. Visual evoked potentials of Niemann-Pick type C1 mice reveal an impairment of the visual pathway that is rescued by 2-hydroxypropyl-ß-cyclodextrin. Palladino G; Loizzo S; Fortuna A; Canterini S; Palombi F; Erickson RP; Mangia F; Fiorenza MT Orphanet J Rare Dis; 2015 Oct; 10():133. PubMed ID: 26458950 [TBL] [Abstract][Full Text] [Related]
9. Decreased neural stem cell proliferation and olfaction in mouse models of Niemann-Pick C1 disease and the response to hydroxypropyl-β-cyclodextrin. Dragotto J; Palladino G; Canterini S; Caporali P; Patil R; Fiorenza MT; Erickson RP J Appl Genet; 2019 Nov; 60(3-4):357-365. PubMed ID: 31485950 [TBL] [Abstract][Full Text] [Related]
10. Reduced Cerebellar BDNF Availability Affects Postnatal Differentiation and Maturation of Granule Cells in a Mouse Model of Cholesterol Dyshomeostasis. Lucarelli M; Camuso S; Di Pietro C; Bruno F; La Rosa P; Marazziti D; Fiorenza MT; Canterini S Mol Neurobiol; 2023 Sep; 60(9):5395-5410. PubMed ID: 37314654 [TBL] [Abstract][Full Text] [Related]
11. Altered levels and distribution of amyloid precursor protein and its processing enzymes in Niemann-Pick type C1-deficient mouse brains. Kodam A; Maulik M; Peake K; Amritraj A; Vetrivel KS; Thinakaran G; Vance JE; Kar S Glia; 2010 Aug; 58(11):1267-81. PubMed ID: 20607864 [TBL] [Abstract][Full Text] [Related]
12. Increased interactions and engulfment of dendrites by microglia precede Purkinje cell degeneration in a mouse model of Niemann Pick Type-C. Kavetsky L; Green KK; Boyle BR; Yousufzai FAK; Padron ZM; Melli SE; Kuhnel VL; Jackson HM; Blanco RE; Howell GR; Soto I Sci Rep; 2019 Oct; 9(1):14722. PubMed ID: 31605022 [TBL] [Abstract][Full Text] [Related]
13. Disruptive lysosomal-metabolic signaling and neurodevelopmental deficits that precede Purkinje cell loss in a mouse model of Niemann-Pick Type-C disease. Kim S; Ochoa K; Melli SE; Yousufzai FAK; Barrera ZD; Williams AA; McIntyre G; Delgado E; Bolish JN; Macleod CM; Boghos M; Lens HP; Ramos AG; Wilson VB; Maloney K; Padron ZM; Khan AH; Blanco RE; Soto I Sci Rep; 2023 Apr; 13(1):5665. PubMed ID: 37024714 [TBL] [Abstract][Full Text] [Related]
14. Defective Cytochrome P450-Catalysed Drug Metabolism in Niemann-Pick Type C Disease. Nicoli ER; Al Eisa N; Cluzeau CV; Wassif CA; Gray J; Burkert KR; Smith DA; Morris L; Cologna SM; Peer CJ; Sissung TM; Uscatu CD; Figg WD; Pavan WJ; Vite CH; Porter FD; Platt FM PLoS One; 2016; 11(3):e0152007. PubMed ID: 27019000 [TBL] [Abstract][Full Text] [Related]
15. Alteration of GABAergic Input Precedes Neurodegeneration of Cerebellar Purkinje Cells of NPC1-Deficient Mice. Rabenstein M; Murr N; Hermann A; Rolfs A; Frech MJ Int J Mol Sci; 2019 Dec; 20(24):. PubMed ID: 31847086 [TBL] [Abstract][Full Text] [Related]
16. Heat shock protein amplification improves cerebellar myelination in the Npc1 Gray J; Fernández-Suárez ME; Falah M; Smith D; Smith C; Kaya E; Palmer AM; Fog CK; Kirkegaard T; Platt FM EBioMedicine; 2022 Dec; 86():104374. PubMed ID: 36455410 [TBL] [Abstract][Full Text] [Related]
17. Reduced cerebellar neurodegeneration after combined therapy with cyclodextrin/allopregnanolone and miglustat in NPC1: a mouse model of Niemann-Pick type C1 disease. Maass F; Petersen J; Hovakimyan M; Schmitt O; Witt M; Hawlitschka A; Lukas J; Rolfs A; Wree A J Neurosci Res; 2015 Mar; 93(3):433-42. PubMed ID: 25400034 [TBL] [Abstract][Full Text] [Related]
18. NPC1 enables cholesterol mobilization during long-term potentiation that can be restored in Niemann-Pick disease type C by CYP46A1 activation. Mitroi DN; Pereyra-Gómez G; Soto-Huelin B; Senovilla F; Kobayashi T; Esteban JA; Ledesma MD EMBO Rep; 2019 Nov; 20(11):e48143. PubMed ID: 31535451 [TBL] [Abstract][Full Text] [Related]
20. Npc1 acting in neurons and glia is essential for the formation and maintenance of CNS myelin. Yu T; Lieberman AP PLoS Genet; 2013 Apr; 9(4):e1003462. PubMed ID: 23593041 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]