Publications:

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: E391K

PubMed Link: 33021976

Variant Present in the following documents:

• Main text
• pcbi.1007554.pdf

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Phenotypic severity in a family with MEND syndrome is directly associated with the accumulation of potentially functional variants of cholesterol homeostasis genes.

Molecular Genetics & Genomic Medicine

Barboza-Cerda, María Carmen MC; Barboza-Quintana, Oralia O; Martínez-Aldape, Gerardo G; Garza-Guajardo, Raquel R; Déctor, Miguel Angel MA

Publication Date: 2019-09

Variant appearance in text: NPC1: 1171G>A

PubMed Link: 31397093

Variant Present in the following documents:

• MGG3-7-e931.pdf

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Rapid Diagnosis of 83 Patients with Niemann Pick Type C Disease and Related Cholesterol Transport Disorders by Cholestantriol Screening.

Ebiomedicine

Reunert, Janine J; Fobker, Manfred M; Kannenberg, Frank F; Du Chesne, Ingrid I; Plate, Maria M; Wellhausen, Judith J; Rust, Stephan S; Marquardt, Thorsten T

Publication Date: 2016-02

Variant appearance in text: NPC1: E391K

PubMed Link: 26981555

Variant Present in the following documents:

• Main text
• mmc1.pdf
• main.pdf

View BVdb publication page