Publications:

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Anti-TNF therapy for inflammatory bowel disease in patients with neurodegenerative Niemann-Pick disease Type C.

Wellcome Open Research

Williams, Isabelle I; Pandey, Sumeet S; Haller, Wolfram W; Huynh, Hien Quoc HQ; Chan, Alicia A; Düeker, Gesche G; Bettels, Ruth R; Peyrin-Biroulet, Laurent L; Dike, Chinenye R CR; DeGeeter, Catherine C; Smith, David D; Al Eisa, Nada N; Platt, Nick N; Marquardt, Thorsten T; Schwerd, Tobias T; Platt, Frances M FM; Uhlig, Holm H HH

Publication Date: 2022

Variant appearance in text: NPC1: 3107C>T

PubMed Link: 35694196

Variant Present in the following documents:

• Main text
• wellcomeopenres-7-18754.pdf

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Repurposing Dipyridamole in Niemann Pick Type C Disease: A Proof of Concept Study.

International Journal Of Molecular Sciences

Pepponi, Rita R; De Simone, Roberta R; De Nuccio, Chiara C; Visentin, Sergio S; Matteucci, Andrea A; Bernardo, Antonietta A; Popoli, Patrizia P; Ferrante, Antonella A

Publication Date: 2022-03-22

Variant appearance in text: NPC1: thr1036met

PubMed Link: 35408815

Variant Present in the following documents:

• Main text
• ijms-23-03456.pdf

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Correlation of age of onset and clinical severity in Niemann-Pick disease type C1 with lysosomal abnormalities and gene expression.

Scientific Reports

Baxter, Laura L LL; Watkins-Chow, Dawn E DE; Johnson, Nicholas L NL; Farhat, Nicole Y NY; Platt, Frances M FM; Dale, Ryan K RK; Porter, Forbes D FD; Pavan, William J WJ; Rodriguez-Gil, Jorge L JL

Publication Date: 2022-02-09

Variant appearance in text: NPC1: 3107C>T; T1036M

PubMed Link: 35140266

Variant Present in the following documents:

• Main text
• 41598_2022_Article_6112.pdf

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Correlation of age of onset and clinical severity in Niemann-Pick disease type C1 with lysosomal abnormalities and gene expression.

Scientific Reports

Baxter, Laura L LL; Watkins-Chow, Dawn E DE; Johnson, Nicholas L NL; Farhat, Nicole Y NY; Platt, Frances M FM; Dale, Ryan K RK; Porter, Forbes D FD; Pavan, William J WJ; Rodriguez-Gil, Jorge L JL

Publication Date: 2022-02-09

Variant appearance in text: NPC1: 3107C>T; T1036M

PubMed Link: 35140266

Variant Present in the following documents:

• Main text
• 41598_2022_Article_6112.pdf

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The Genetics of Inherited Cholestatic Disorders in Neonates and Infants: Evolving Challenges.

Genes

Jeyaraj, Rebecca R; Bounford, Kirsten McKay KM; Ruth, Nicola N; Lloyd, Carla C; MacDonald, Fiona F; Hendriksz, Christian J CJ; Baumann, Ulrich U; Gissen, Paul P; Kelly, Deirdre D

Publication Date: 2021-11-21

Variant appearance in text: NPC1: 3107C>T; T1036M; rs28942104

PubMed Link: 34828443

Variant Present in the following documents:

• Main text
• genes-12-01837.pdf

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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: rs28942104

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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Clinical and Molecular Features of Early Infantile Niemann Pick Type C Disease.

International Journal Of Molecular Sciences

Seker Yilmaz, Berna B; Baruteau, Julien J; Rahim, Ahad A AA; Gissen, Paul P

Publication Date: 2020-07-17

Variant appearance in text: NPC1: 3107C>T; T1036M

PubMed Link: 32709131

Variant Present in the following documents:

• Main text
• ijms-21-05059.pdf

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Molecular Genetics of Niemann-Pick Type C Disease in Italy: An Update on 105 Patients and Description of 18 NPC1 Novel Variants.

Journal Of Clinical Medicine

Dardis, Andrea A; Zampieri, Stefania S; Gellera, Cinzia C; Carrozzo, Rosalba R; Cattarossi, Silvia S; Peruzzo, Paolo P; Dariol, Rosalia R; Sechi, Annalisa A; Deodato, Federica F; Caccia, Claudio C; Verrigni, Daniela D; Gasperini, Serena S; Fiumara, Agata A; Fecarotta, Simona S; Carecchio, Miryam M; Filosto, Massimiliano M; Santoro, Lucia L; Borroni, Barbara B; Bordugo, Andrea A; Brancati, Francesco F; Russo, Cinzia V CV; Di Rocco, Maja M; Toscano, Antonio A; Scarpa, Maurizio M; Bembi, Bruno B

Publication Date: 2020-03-03

Variant appearance in text: NPC1: T1036M

PubMed Link: 32138288

Variant Present in the following documents:

• Main text
• jcm-09-00679.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: T1036M

PubMed Link: 31699992

Variant Present in the following documents:

• Main text
• 41467_2019_12969_MOESM1_ESM.pdf

View BVdb publication page

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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: T1036M

PubMed Link: 31509197

Variant Present in the following documents:

• Main text

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Coordinate regulation of mutant NPC1 degradation by selective ER autophagy and MARCH6-dependent ERAD.

Nature Communications

Schultz, Mark L ML; Krus, Kelsey L KL; Kaushik, Susmita S; Dang, Derek D; Chopra, Ravi R; Qi, Ling L; Shakkottai, Vikram G VG; Cuervo, Ana Maria AM; Lieberman, Andrew P AP

Publication Date: 2018-09-10

Variant appearance in text: NPC1: T1036M

PubMed Link: 30202070

Variant Present in the following documents:

• 41467_2018_Article_6115.pdf

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Case Report: Ursodeoxycholic acid treatment in Niemann-Pick disease type C; clinical experience in four cases.

Wellcome Open Research

Evans, William R H WRH; Nicoli, Elena-Raluca ER; Wang, Raymond Y RY; Movsesyan, Nina N; Platt, Frances M FM

Publication Date: 2017

Variant appearance in text: NPC1: 3107C>T

PubMed Link: 29119141

Variant Present in the following documents:

• Main text
• wellcomeopenres-2-12809.pdf

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The population genetics of human disease: The case of recessive, lethal mutations.

Plos Genetics

Amorim, Carlos Eduardo G CEG; Gao, Ziyue Z; Baker, Zachary Z; Diesel, José Francisco JF; Simons, Yuval B YB; Haque, Imran S IS; Pickrell, Joseph J; Przeworski, Molly M

Publication Date: 2017-09

Variant appearance in text: NPC1: 3107C>T; Thr1036Met; rs28942104

PubMed Link: 28957316

Variant Present in the following documents:

• pgen.1006915.s002.xlsx, sheet 1

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Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S

Publication Date: 2017-10

Variant appearance in text: NPC1: 3107C>T; Thr1036Met

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

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Assessment of plasma chitotriosidase activity, CCL18/PARC concentration and NP-C suspicion index in the diagnosis of Niemann-Pick disease type C: a prospective observational study.

Journal Of Translational Medicine

De Castro-Orós, Isabel I; Irún, Pilar P; Cebolla, Jorge Javier JJ; Rodriguez-Sureda, Victor V; Mallén, Miguel M; Pueyo, María Jesús MJ; Mozas, Pilar P; Dominguez, Carmen C; Pocoví, Miguel M; ,

Publication Date: 2017-02-21

Variant appearance in text: NPC1: Thr1036Met

PubMed Link: 28222799

Variant Present in the following documents:

• Main text
• 12967_2017_Article_1146.pdf

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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: T1036M

PubMed Link: 27139891

Variant Present in the following documents:

• FEB2-590-1651-s001.pdf

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Gpnmb Is a Potential Marker for the Visceral Pathology in Niemann-Pick Type C Disease.

Plos One

Marques, André R A AR; Gabriel, Tanit L TL; Aten, Jan J; van Roomen, Cindy P A A CP; Ottenhoff, Roelof R; Claessen, Nike N; Alfonso, Pilar P; Irún, Pilar P; Giraldo, Pilar P; Aerts, Johannes M F G JM; van Eijk, Marco M

Publication Date: 2016

Variant appearance in text: NPC1: Thr1036Met

PubMed Link: 26771826

Variant Present in the following documents:

• pone.0147208.s002.xls, sheet 1

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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: 3107C>T; Thr1036Met

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: T1036M; rs28942104

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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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: T1036M

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 4

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Human and mouse neuroinflammation markers in Niemann-Pick disease, type C1.

Journal Of Inherited Metabolic Disease

Cologna, Stephanie M SM; Cluzeau, Celine V M CV; Yanjanin, Nicole M NM; Blank, Paul S PS; Dail, Michelle K MK; Siebel, Stephan S; Toth, Cynthia L CL; Wassif, Christopher A CA; Lieberman, Andrew P AP; Porter, Forbes D FD

Publication Date: 2014-01

Variant appearance in text: NPC1: 3107C>T

PubMed Link: 23653225

Variant Present in the following documents:

• Main text

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Mitotic spindle defects and chromosome mis-segregation induced by LDL/cholesterol-implications for Niemann-Pick C1, Alzheimer's disease, and atherosclerosis.

Plos One

Granic, Antoneta A; Potter, Huntington H

Publication Date: 2013

Variant appearance in text: NPC1: THR1036MET

PubMed Link: 23593294

Variant Present in the following documents:

• Main text
• pone.0060718.pdf

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Miglustat therapy in the French cohort of paediatric patients with Niemann-Pick disease type C.

Orphanet Journal Of Rare Diseases

Héron, Bénédicte B; Valayannopoulos, Vassili V; Baruteau, Julien J; Chabrol, Brigitte B; Ogier, Hélène H; Latour, Philippe P; Dobbelaere, Dries D; Eyer, Didier D; Labarthe, François F; Maurey, Hélène H; Cuisset, Jean-Marie JM; de Villemeur, Thierry Billette TB; Sedel, Frédéric F; Vanier, Marie T MT

Publication Date: 2012-06-07

Variant appearance in text: NPC1: T1036M

PubMed Link: 22676771

Variant Present in the following documents:

• Main text
• 1750-1172-7-36.pdf

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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: T1036M

PubMed Link: 19744920

Variant Present in the following documents:

• Main text

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