Publications:

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A Case Series on Genotype and Outcome of Liver Transplantation in Children with Niemann-Pick Disease Type C.

Children (Basel, Switzerland)

Modin, Line L; Ng, Vicky V; Gissen, Paul P; Raiman, Julian J; Pfister, Eva Doreen ED; Das, Anibh A; Santer, René R; Faghfoury, Hanna H; Santra, Saikat S; Baumann, Ulrich U

Publication Date: 2021-09-17

Variant appearance in text: NPC1: Pro887Leu

PubMed Link: 34572251

Variant Present in the following documents:

• Main text
• children-08-00819.pdf

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Retinal axonal degeneration in Niemann-Pick type C disease.

Journal Of Neurology

Havla, Joachim J; Moser, Marlene M; Sztatecsny, Clara C; Lotz-Havla, Amelie S AS; Maier, Esther M EM; Hizli, Baccara B; Schinner, Regina R; Kümpfel, Tania T; Strupp, Michael M; Bremova-Ertl, Tatiana T; Schneider, Susanne A SA

Publication Date: 2020-07

Variant appearance in text: NPC1: 2660C>T; P887L

PubMed Link: 32222928

Variant Present in the following documents:

• Main text
• 415_2020_Article_9796.pdf

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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: P887L

PubMed Link: 32204338

Variant Present in the following documents:

• Main text

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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: P887L

PubMed Link: 31699992

Variant Present in the following documents:

• 41467_2019_12969_MOESM1_ESM.pdf

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Histone deacetylase inhibitors correct the cholesterol storage defect in most Niemann-Pick C1 mutant cells.

Journal Of Lipid Research

Pipalia, Nina H NH; Subramanian, Kanagaraj K; Mao, Shu S; Ralph, Harold H; Hutt, Darren M DM; Scott, Samantha M SM; Balch, William E WE; Maxfield, Frederick R FR

Publication Date: 2017-04

Variant appearance in text: NPC1: P887L

PubMed Link: 28193631

Variant Present in the following documents:

• Main text

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Identification of novel bile acids as biomarkers for the early diagnosis of Niemann-Pick C disease.

Febs Letters

Mazzacuva, Francesca F; Mills, Philippa P; Mills, Kevin K; Camuzeaux, Stephane S; Gissen, Paul P; Nicoli, Elena-Raluca ER; Wassif, Christopher C; Te Vruchte, Danielle D; Porter, Forbes D FD; Maekawa, Masamitsu M; Mano, Nariyasu N; Iida, Takashi T; Platt, Frances F; Clayton, Peter T PT

Publication Date: 2016-06

Variant appearance in text: NPC1: P887L

PubMed Link: 27139891

Variant Present in the following documents:

• FEB2-590-1651-s001.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: 2660C>T; P887L

PubMed Link: 26981555

Variant Present in the following documents:

• mmc1.pdf

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Intrathecal 2-hydroxypropyl-beta-cyclodextrin in a single patient with Niemann-Pick C1.

Molecular Genetics And Metabolism

Maarup, Timothy J TJ; Chen, Agnes H AH; Porter, Forbes D FD; Farhat, Nicole Y NY; Ory, Daniel S DS; Sidhu, Rohini R; Jiang, Xuntian X; Dickson, Patricia I PI

Publication Date: 2015

Variant appearance in text: NPC1: 2660C>T; P887L

PubMed Link: 26189084

Variant Present in the following documents:

• Main text

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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: P887L

PubMed Link: 19744920

Variant Present in the following documents:

• Main text

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