Publications:

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: cys74tyr

PubMed Link: 35408815

Variant Present in the following documents:

• Main text
• ijms-23-03456.pdf

View BVdb publication page

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: C74Y

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

Curation of the Mammalian Palmitoylome Indicates a Pivotal Role for Palmitoylation in Diseases and Disorders of the Nervous System and Cancers.

Plos Computational Biology

Sanders, Shaun S SS; Martin, Dale D O DD; Butland, Stefanie L SL; Lavallée-Adam, Mathieu M; Calzolari, Diego D; Kay, Chris C; Yates, John R JR; Hayden, Michael R MR

Publication Date: 2015-08

Variant appearance in text: NPC1: C74Y

PubMed Link: 26275289

Variant Present in the following documents:

• Main text
• pcbi.1004405.pdf

View BVdb publication page

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: C74Y

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 4

View BVdb publication page

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: C74Y

PubMed Link: 19744920

Variant Present in the following documents:

• Main text

View BVdb publication page