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Forbes Denny Porter

Government of the United States of America - Eunice Kennedy-Shriver National Institutes of Child Health and Human Development

SCHOLARLY PAPERS

4

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153

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0

Scholarly Papers (4)

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1.

Generation and Characterization of Human iPSC-Derived NPC1I1061T/I10161T i3Neurons as a Model for NPC1 Disease

Number of pages: 33 Posted: 30 Sep 2025
Shikha Salhotra, Niamh X. Cawley, Christian White, Insung Kang, Anika Prabhu, Cristin D. Davidson, Christopher A. Wassif and Forbes Denny Porter
Government of the United States of America - Eunice Kennedy-Shriver National Institutes of Child Health and Human Development, Government of the United States of America - Eunice Kennedy-Shriver National Institutes of Child Health and Human Development, Government of the United States of America - Eunice Kennedy-Shriver National Institutes of Child Health and Human Development, Government of the United States of America - Eunice Kennedy-Shriver National Institutes of Child Health and Human Development, Government of the United States of America - Eunice Kennedy-Shriver National Institutes of Child Health and Human Development, Government of the United States of America - Eunice Kennedy-Shriver National Institutes of Child Health and Human Development, Government of the United States of America - Eunice Kennedy-Shriver National Institutes of Child Health and Human Development and Government of the United States of America - Eunice Kennedy-Shriver National Institutes of Child Health and Human Development
Downloads 57 (989,921)

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Niemann-Pick disease, type C1, NPC1, I1061T mutant, neuronal model, proteostasis modulators, lysosomal storage disorder

2.

Utility of 24(S)-hydroxycholesterol as a proximal biomarker to monitor long-term intrathecal adrabetadex therapy in individuals with Niemann-Pick disease, type C1

Number of pages: 7 Posted: 19 Sep 2025
Forbes Denny Porter, Derek M. Alexander, Orsolya Katalin Albert, Kendall P. Robbins, Desiree A. Labor, Aiden J. Borruso, Nicole M. Farhat, Xuntian Jiang and Elizabeth Berry-Kravis
Government of the United States of America - Eunice Kennedy-Shriver National Institutes of Child Health and Human Development, affiliation not provided to SSRN, Rush University - Rush University Medical Center, Rush University - Rush University Medical Center, affiliation not provided to SSRN, affiliation not provided to SSRN, affiliation not provided to SSRN, affiliation not provided to SSRN and Rush University - Rush University Medical Center
Downloads 52 (1,041,696)

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Niemann-Pick disease, type C1, NPC1, 24(S)-hydroxycholesterol, Biomarker, 2-hydroxypropyl-B-cyclodextrin, adrabetadex

3.

Elevated Cerebrospinal Fluid Glial Fibrillary Acidic Protein Levels in Smith-Lemli-Opitz Syndrome

Number of pages: 21 Posted: 18 Jul 2024
Rachel A. Luke, Niamh X. Cawley, Samar Rahal, Aishwarya Selvaraman, Audrey Thurm, Christopher A. Wassif and Forbes Denny Porter
affiliation not provided to SSRN, Government of the United States of America - Eunice Kennedy-Shriver National Institutes of Child Health and Human Development, affiliation not provided to SSRN, affiliation not provided to SSRN, Government of the United States of America - National Institute of Mental Health, Government of the United States of America - Eunice Kennedy-Shriver National Institutes of Child Health and Human Development and Government of the United States of America - Eunice Kennedy-Shriver National Institutes of Child Health and Human Development
Downloads 33 (1,277,121)

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Smith-Lemli-Opitz syndrome, DHCR7, SLOS, GFAP, Biomarkers

4.

Lack of Cathepsin B Increases Severity in Niemann-Pick Disease, type C1 Mice

Number of pages: 9 Posted: 05 May 2026
Rachel A. Luke, Niamh X. Cawley and Forbes Denny Porter
affiliation not provided to SSRN, Government of the United States of America - Eunice Kennedy-Shriver National Institutes of Child Health and Human Development and Government of the United States of America - Eunice Kennedy-Shriver National Institutes of Child Health and Human Development
Downloads 11 (1,541,665)

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Neurodegeneration, apoptosis, lysosome membrane permeability, NPC1, cathepsin B