Publications:

Different Trafficking Phenotypes of Niemann-Pick C1 Gene Mutations Correlate with Various Alterations in Lipid Storage, Membrane Composition and Miglustat Amenability.

International Journal Of Molecular Sciences

Brogden, Graham G; Shammas, Hadeel H; Walters, Friederike F; Maalouf, Katia K; Das, Anibh M AM; Naim, Hassan Y HY; Rizk, Sandra S

Publication Date: 2020-03-19

Variant appearance in text: NPC1: D948Y

PubMed Link: 32204338

Variant Present in the following documents:

• Main text
• ijms-21-02101.pdf

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Different Niemann-Pick C1 Genotypes Generate Protein Phenotypes that Vary in their Intracellular Processing, Trafficking and Localization.

Scientific Reports

Shammas, Hadeel H; Kuech, Eva-Maria EM; Rizk, Sandra S; Das, Anibh M AM; Naim, Hassan Y HY

Publication Date: 2019-03-28

Variant appearance in text: NPC1: D948Y

PubMed Link: 30923329

Variant Present in the following documents:

• Main text
• 41598_2019_41707_MOESM1_ESM.pdf
• 41598_2019_Article_41707.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: D948Y

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: D948Y

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 4

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