Publications:

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Signatures of natural selection and ethnic-specific prevalence of NPC1 pathogenic mutations contributing to obesity and Niemann-Pick disease type C1.

Scientific Reports

Chiorean, Andreea A; Garver, William S WS; Meyre, David D

Publication Date: 2020-11-02

Variant appearance in text: rs1364834942

PubMed Link: 33139814

Variant Present in the following documents:

• 41598_2020_75919_MOESM2_ESM.xlsx, sheet 3
• 41598_2020_75919_MOESM2_ESM.xlsx, sheet 1

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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: G986S

PubMed Link: 27238017

Variant Present in the following documents:

• mmc1.pdf
• mmc2.pdf

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Establishing the precise evolutionary history of a gene improves prediction of disease-causing missense mutations.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Adebali, Ogun O; Reznik, Alexander O AO; Ory, Daniel S DS; Zhulin, Igor B IB

Publication Date: 2016-10

Variant appearance in text: NPC1: G986S

PubMed Link: 26890452

Variant Present in the following documents:

• Main text

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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: 2956G>A; Gly986Ser

PubMed Link: 26666848

Variant Present in the following documents:

• Main text
• 12883_2015_Article_511.pdf

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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: G986S

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

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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: G986S

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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Multi-system disorders of glycosphingolipid and ganglioside metabolism.

Journal Of Lipid Research

Xu, You-Hai YH; Barnes, Sonya S; Sun, Ying Y; Grabowski, Gregory A GA

Publication Date: 2010-07

Variant appearance in text: NPC1: G986S

PubMed Link: 20211931

Variant Present in the following documents:

• Main text

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Niemann-Pick C1 disease: correlations between NPC1 mutations, levels of NPC1 protein, and phenotypes emphasize the functional significance of the putative sterol-sensing domain and of the cysteine-rich luminal loop.

American Journal Of Human Genetics

Millat, G G; Marçais, C C; Tomasetto, C C; Chikh, K K; Fensom, A H AH; Harzer, K K; Wenger, D A DA; Ohno, K K; Vanier, M T MT

Publication Date: 2001-06

Variant appearance in text: NPC1: G986S

PubMed Link: 11333381

Variant Present in the following documents:

• Main text

View BVdb publication page

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