Publications:

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Repurposing Dipyridamole in Niemann Pick Type C Disease: A Proof of Concept Study.

International Journal Of Molecular Sciences

Pepponi, Rita R; De Simone, Roberta R; De Nuccio, Chiara C; Visentin, Sergio S; Matteucci, Andrea A; Bernardo, Antonietta A; Popoli, Patrizia P; Ferrante, Antonella A

Publication Date: 2022-03-22

Variant appearance in text: NPC1: tyr509ser

PubMed Link: 35408815

Variant Present in the following documents:

• Main text
• ijms-23-03456.pdf

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Structural Insights into the Niemann-Pick C1 (NPC1)-Mediated Cholesterol Transfer and Ebola Infection.

Cell

Gong, Xin X; Qian, Hongwu H; Zhou, Xinhui X; Wu, Jianping J; Wan, Tao T; Cao, Pingping P; Huang, Weiyun W; Zhao, Xin X; Wang, Xudong X; Wang, Peiyi P; Shi, Yi Y; Gao, George F GF; Zhou, Qiang Q; Yan, Nieng N

Publication Date: 2016-06-02

Variant appearance in text: NPC1: Y509S

PubMed Link: 27238017

Variant Present in the following documents:

• mmc1.pdf
• mmc2.pdf

View BVdb publication page

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Observational cohort study of the natural history of Niemann-Pick disease type C in the UK: a 5-year update from the UK clinical database.

Bmc Neurology

Imrie, Jackie J; Heptinstall, Lesley L; Knight, Stephen S; Strong, Kate K

Publication Date: 2015-12-15

Variant appearance in text: NPC1: 1526A>C; Tyr509Ser

PubMed Link: 26666848

Variant Present in the following documents:

• Main text
• 12883_2015_Article_511.pdf

View BVdb publication page

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Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: NPC1: Y509S

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: NPC1: Y509S

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 4

View BVdb publication page

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Ryanodine receptor antagonists adapt NPC1 proteostasis to ameliorate lipid storage in Niemann-Pick type C disease fibroblasts.

Human Molecular Genetics

Yu, Ting T; Chung, Chan C; Shen, Dongbiao D; Xu, Haoxing H; Lieberman, Andrew P AP

Publication Date: 2012-07-15

Variant appearance in text: NPC1: Y509S

PubMed Link: 22505584

Variant Present in the following documents:

• Main text

View BVdb publication page

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The National Niemann-Pick Type C1 Disease Database: correlation of lipid profiles, mutations, and biochemical phenotypes.

Journal Of Lipid Research

Garver, William S WS; Jelinek, David D; Meaney, F John FJ; Flynn, James J; Pettit, Kathleen M KM; Shepherd, Glen G; Heidenreich, Randall A RA; Vockley, Cate M Walsh CM; Castro, Graciela G; Francis, Gordon A GA

Publication Date: 2010-02

Variant appearance in text: NPC1: Y509S

PubMed Link: 19744920

Variant Present in the following documents:

• Main text

View BVdb publication page

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