Publications:

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Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.

American Journal Of Human Genetics

Pejaver, Vikas V; Byrne, Alicia B AB; Feng, Bing-Jian BJ; Pagel, Kymberleigh A KA; Mooney, Sean D SD; Karchin, Rachel R; O'Donnell-Luria, Anne A; Harrison, Steven M SM; Tavtigian, Sean V SV; Greenblatt, Marc S MS; Biesecker, Leslie G LG; Radivojac, Predrag P; Brenner, Steven E SE; ,

Publication Date: 2022-12-01

Variant appearance in text: NPC1: N701K

PubMed Link: 36413997

Variant Present in the following documents:

• mmc2.xlsx, sheet 1

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Activation of mitochondrial TRAP1 stimulates mitochondria-lysosome crosstalk and correction of lysosomal dysfunction.

Iscience

Chen, Fannie W FW; Davies, Joanna P JP; Calvo, Raul R; Chaudhari, Jagruti J; Dolios, Georgia G; Taylor, Mercedes K MK; Patnaik, Samarjit S; Dehdashti, Jean J; Mull, Rebecca R; Dranchack, Patricia P; Wang, Amy A; Xu, Xin X; Hughes, Emma E; Southall, Noel N; Ferrer, Marc M; Wang, Rong R; Marugan, Juan J JJ; Ioannou, Yiannis A YA

Publication Date: 2022-09-16

Variant appearance in text: NPC1: N701K

PubMed Link: 36065186

Variant Present in the following documents:

• Main text
• main.pdf

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Targeting defective sphingosine kinase 1 in Niemann-Pick type C disease with an activator mitigates cholesterol accumulation.

The Journal Of Biological Chemistry

Newton, Jason J; Palladino, Elisa N D END; Weigel, Cynthia C; Maceyka, Michael M; Gräler, Markus H MH; Senkal, Can E CE; Enriz, Ricardo D RD; Marvanova, Pavlina P; Jampilek, Josef J; Lima, Santiago S; Milstien, Sheldon S; Spiegel, Sarah S

Publication Date: 2020-07-03

Variant appearance in text: NPC1: N701K

PubMed Link: 32385114

Variant Present in the following documents:

• Main text

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Mechanistic convergence and shared therapeutic targets in Niemann-Pick disease.

Journal Of Inherited Metabolic Disease

Colaco, Alexandria A; Kaya, Ecem E; Adriaenssens, Elias E; Davis, Lianne C LC; Zampieri, Stefania S; Fernández-Suárez, María E ME; Tan, Chong Y CY; Deegan, Patrick B PB; Porter, Forbes D FD; Galione, Antony A; Bembi, Bruno B; Dardis, Andrea A; Platt, Frances M FM

Publication Date: 2020-05

Variant appearance in text: NPC1: N701K

PubMed Link: 31707734

Variant Present in the following documents:

• Main text
• JIMD-43-574.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: N701K

PubMed Link: 28193631

Variant Present in the following documents:

• Main text

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The Spectrum of Niemann-Pick Type C Disease in Greece.

Jimd Reports

Mavridou, Irene I; Dimitriou, Evangelia E; Vanier, Marie T MT; Vilageliu, Lluisa L; Grinberg, Daniel D; Latour, Philippe P; Xaidara, Athina A; Lycopoulou, Lilia L; Bostantjopoulou, Sevasti S; Zafeiriou, Dimitrios D; Michelakakis, Helen H

Publication Date: 2017

Variant appearance in text: NPC1: N701K

PubMed Link: 28105569

Variant Present in the following documents:

• Main text

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FTY720/fingolimod increases NPC1 and NPC2 expression and reduces cholesterol and sphingolipid accumulation in Niemann-Pick type C mutant fibroblasts.

Faseb Journal : Official Publication Of The Federation Of American Societies For Experimental Biology

Newton, Jason J; Hait, Nitai C NC; Maceyka, Michael M; Colaco, Alexandria A; Maczis, Melissa M; Wassif, Christopher A CA; Cougnoux, Antony A; Porter, Forbes D FD; Milstien, Sheldon S; Platt, Nicholas N; Platt, Frances M FM; Spiegel, Sarah S

Publication Date: 2017-04

Variant appearance in text: NPC1: N701K

PubMed Link: 28082351

Variant Present in the following documents:

• Main text

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Quantitative proteomic analysis of Niemann-Pick disease, type C1 cerebellum identifies protein biomarkers and provides pathological insight.

Plos One

Cologna, Stephanie M SM; Jiang, Xiao-Sheng XS; Backlund, Peter S PS; Cluzeau, Celine V M CV; Dail, Michelle K MK; Yanjanin, Nicole M NM; Siebel, Stephan S; Toth, Cynthia L CL; Jun, Hyun-sik HS; Wassif, Christopher A CA; Yergey, Alfred L AL; Porter, Forbes D FD

Publication Date: 2012

Variant appearance in text: NPC1: N701K

PubMed Link: 23144710

Variant Present in the following documents:

• Main text
• pone.0047845.pdf

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δ-Tocopherol reduces lipid accumulation in Niemann-Pick type C1 and Wolman cholesterol storage disorders.

The Journal Of Biological Chemistry

Xu, Miao M; Liu, Ke K; Swaroop, Manju M; Porter, Forbes D FD; Sidhu, Rohini R; Firnkes, Sally S; Finkes, Sally S; Ory, Daniel S DS; Marugan, Juan J JJ; Xiao, Jingbo J; Southall, Noel N; Pavan, William J WJ; Davidson, Cristin C; Walkley, Steven U SU; Remaley, Alan T AT; Baxa, Ulrich U; Sun, Wei W; McKew, John C JC; Austin, Christopher P CP; Zheng, Wei W

Publication Date: 2012-11-16

Variant appearance in text: NPC1: N701K

PubMed Link: 23035117

Variant Present in the following documents:

• Main text

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