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Immune dysfunction in Niemann-Pick disease type C.
Platt N, Speak AO, Colaco A, Gray J, Smith DA, Williams IM, Wallom KL, Platt FM. Platt N, et al. Among authors: colaco a. J Neurochem. 2016 Jan;136 Suppl 1(Suppl Suppl 1):74-80. doi: 10.1111/jnc.13138. Epub 2015 Jun 4. J Neurochem. 2016. PMID: 25946402 Free PMC article. Review.
Biomarkers for disease progression and AAV therapeutic efficacy in feline Sandhoff disease.
Bradbury AM, Gray-Edwards HL, Shirley JL, McCurdy VJ, Colaco AN, Randle AN, Christopherson PW, Bird AC, Johnson AK, Wilson DU, Hudson JA, De Pompa NL, Sorjonen DC, Brunson BL, Jeyakumar M, Platt FM, Baker HJ, Cox NR, Sena-Esteves M, Martin DR. Bradbury AM, et al. Among authors: colaco an. Exp Neurol. 2015 Jan;263:102-12. doi: 10.1016/j.expneurol.2014.09.020. Epub 2014 Oct 5. Exp Neurol. 2015. PMID: 25284324 Free PMC article.
FTY720/fingolimod increases NPC1 and NPC2 expression and reduces cholesterol and sphingolipid accumulation in Niemann-Pick type C mutant fibroblasts.
Newton J, Hait NC, Maceyka M, Colaco A, Maczis M, Wassif CA, Cougnoux A, Porter FD, Milstien S, Platt N, Platt FM, Spiegel S. Newton J, et al. Among authors: colaco a. FASEB J. 2017 Apr;31(4):1719-1730. doi: 10.1096/fj.201601041R. Epub 2017 Jan 12. FASEB J. 2017. PMID: 28082351 Free PMC article.
Niemann-Pick type C (NPC) disease is a fatal neurodegenerative disorder caused by mutations in NPC1 or NPC2 with decreased functions leading to lysosomal accumulation of cholesterol and sphingolipids. ...-Newton, J., Hait, N. C., Maceyka, M., Colaco, A., Macz …
Niemann-Pick type C (NPC) disease is a fatal neurodegenerative disorder caused by mutations in NPC1 or NPC2 with decreased functions …
Mechanistic convergence and shared therapeutic targets in Niemann-Pick disease.
Colaco A, Kaya E, Adriaenssens E, Davis LC, Zampieri S, Fernández-Suárez ME, Tan CY, Deegan PB, Porter FD, Galione A, Bembi B, Dardis A, Platt FM. Colaco A, et al. J Inherit Metab Dis. 2020 May;43(3):574-585. doi: 10.1002/jimd.12191. Epub 2019 Dec 5. J Inherit Metab Dis. 2020. PMID: 31707734 Free PMC article.
128 results