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Author/Creator Porter, Forbes D

2. Fusion of lysosomes with secretory organelles leads to uncontrolled exocytosis in the lysosomal storage disease mucolipidosis type IV. (18th December 2015)

Authors:
Park, Soonhong; Ahuja, Malini; Kim, Min Seuk; Brailoiu, G Cristina; Jha, Archana; Zeng, Mei; Baydyuk, Maryna; Wu, Ling‐Gang; Wassif, Christopher A; Porter, Forbes D; Zerfas, Patricia M; Eckhaus, Michael A; Brailoiu, Eugen; Shin, Dong Min; Muallem, Shmuel
Journal:
EMBO reports
Issue:
Volume 17:Number 2(2016:Feb.)
Page Start:
266
Record Type:
Journal Article
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3. Glycerophosphoinositol is Elevated in Blood Samples From CLN3Δex7-8 pigs, Cln3Δex7-8 Mice, and CLN3-Affected Individuals. Issue 17 (June 2022)

Authors:
Brudvig, Jon J; Swier, Vicki J; Johnson, Tyler B; Cain, Jacob C; Pratt, Melissa; Rechtzigel, Mitch; Leppert, Hannah; Dang Do, An N; Porter, Forbes D; Weimer, Jill M
Journal:
Biomarker insights
Issue:
Volume 2022:Issue 17(2022)
Page Start:
Record Type:
Journal Article
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4. Intrathecal 2-hydroxypropyl-β-cyclodextrin decreases neurological disease progression in Niemann-Pick disease, type C1: a non-randomised, open-label, phase 1–2 trial. Issue 10104 (14th October 2017)

Authors:
Ory, Daniel S; Ottinger, Elizabeth A; Farhat, Nicole Yanjanin; King, Kelly A; Jiang, Xuntian; Weissfeld, Lisa; Berry-Kravis, Elizabeth; Davidson, Cristin D; Bianconi, Simona; Keener, Lee Ann; Rao, Ravichandran; Soldatos, Ariane; Sidhu, Rohini; Walters, Kimberly A; Xu, Xin; Thurm, Audrey; Solomon,...
Journal:
Lancet
Issue:
Volume 390:Issue 10104(2017)
Page Start:
1758
Record Type:
Journal Article
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5. Microglia activation in Niemann–Pick disease, type C1 is amendable to therapeutic intervention. (30th March 2018)

Authors:
Cougnoux, Antony; Drummond, Rebecca A; Collar, Amanda L; Iben, James R; Salman, Alexander; Westgarth, Harrison; Wassif, Christopher A; Cawley, Niamh X; Farhat, Nicole Y; Ozato, Keiko; Lionakis, Michail S; Porter, Forbes D
Journal:
Human molecular genetics
Issue:
Volume 27:Number 12(2018:Jun. 15)
Page Start:
2076
Record Type:
Journal Article
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7. Transcriptome of HPβCD-treated Niemann-Pick disease type C1 cells highlights GPNMB as a biomarker for therapeutics. Issue 24 (22nd July 2021)

Authors:
Rodriguez-Gil, Jorge L; Baxter, Laura L; Watkins-Chow, Dawn E; Johnson, Nicholas L; Davidson, Cristin D; Carlson, Steven R; Incao, Arturo A; Wallom, Kerri L; Farhat, Nicole Y; Platt, Frances M; Dale, Ryan K; Porter, Forbes D; Pavan, William J
Journal:
Human molecular genetics
Issue:
Volume 30:Issue 24(2021)
Page Start:
2456
Record Type:
Journal Article
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