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: rs773351341

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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Cholesterol binding to the sterol-sensing region of Niemann Pick C1 protein confines dynamics of its N-terminal domain.

Plos Computational Biology

Dubey, Vikas V; Bozorg, Behruz B; Wüstner, Daniel D; Khandelia, Himanshu H

Publication Date: 2020-10

Variant appearance in text: NPC1: R615L

PubMed Link: 33021976

Variant Present in the following documents:

• Main text
• pcbi.1007554.pdf

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Quantitating the epigenetic transformation contributing to cholesterol homeostasis using Gaussian process.

Nature Communications

Wang, Chao C; Scott, Samantha M SM; Subramanian, Kanagaraj K; Loguercio, Salvatore S; Zhao, Pei P; Hutt, Darren M DM; Farhat, Nicole Y NY; Porter, Forbes D FD; Balch, William E WE

Publication Date: 2019-11-07

Variant appearance in text: NPC1: R615L

PubMed Link: 31699992

Variant Present in the following documents:

• 41467_2019_12969_MOESM1_ESM.pdf

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Individualized management of genetic diversity in Niemann-Pick C1 through modulation of the Hsp70 chaperone system.

Human Molecular Genetics

Wang, Chao C; Scott, Samantha M SM; Sun, Shuhong S; Zhao, Pei P; Hutt, Darren M DM; Shao, Hao H; Gestwicki, Jason E JE; Balch, William E WE

Publication Date: 2020-01-01

Variant appearance in text: NPC1: R615L

PubMed Link: 31509197

Variant Present in the following documents:

• Main text

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The genetic and clinico-pathological profile of early-onset progressive supranuclear palsy.

Movement Disorders : Official Journal Of The Movement Disorder Society

Jabbari, Edwin E; Woodside, John J; Tan, Manuela M X MMX; Pavese, Nicola N; Bandmann, Oliver O; Ghosh, Boyd C P BCP; Massey, Luke A LA; Capps, Erica E; Warner, Tom T TT; Lees, Andrew J AJ; Revesz, Tamas T; Holton, Janice L JL; Williams, Nigel M NM; Grosset, Donald G DG; Morris, Huw R HR

Publication Date: 2019-09

Variant appearance in text: NPC1: 1844G>T; Arg615Leu

PubMed Link: 31299107

Variant Present in the following documents:

• Main text
• MDS-34-1307.pdf

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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: 1844G>T; Arg615Leu

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: R615L

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: R615L

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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