Publications:

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Presenting Patterns of Genetically Determined Developmental Encephalopathies With Epilepsy and Movement Disorders: A Single Tertiary Center Retrospective Cohort Study.

Frontiers In Neurology

Mastrangelo, Mario M; Galosi, Serena S; Cesario, Serena S; Renzi, Alessia A; Campea, Lucilla L; Leuzzi, Vincenzo V

Publication Date: 2022

Variant appearance in text: NPC1: 1211G>A

PubMed Link: 35795805

Variant Present in the following documents:

• Main text
• fneur-13-855134.pdf

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Elevated Alpha-Fetoprotein in Infantile-Onset Niemann-Pick Type C Disease with Liver Involvement.

Children (Basel, Switzerland)

Kraus, Dror D; Abdelrahim, Huda H; Waisbourd-Zinman, Orith O; Domin, Elena E; Zeharia, Avraham A; Staretz-Chacham, Orna O

Publication Date: 2022-04-12

Variant appearance in text: NPC1: R404Q

PubMed Link: 35455589

Variant Present in the following documents:

• Main text
• children-09-00545.pdf

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Are transient protein-protein interactions more dispensable?

Plos Computational Biology

Ghadie, Mohamed Ali MA; Xia, Yu Y

Publication Date: 2022-04

Variant appearance in text: NPC1: 1211G>A; Arg404Gln

PubMed Link: 35404956

Variant Present in the following documents:

• pcbi.1010013.s002.xlsx, sheet 4

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Etiology of neonatal cholestasis after emerging molecular diagnostics.

Translational Pediatrics

Wang, Huanhuan H; Yang, Lin L; Wang, Jin J

Publication Date: 2022-03

Variant appearance in text: NPC1: 1211G>A; R404Q

PubMed Link: 35378957

Variant Present in the following documents:

• tp-11-03-359-supplementary.pdf

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The Presence of Vacuolated Kupffer Cells Raises a Clinical Suspicion of Niemann-Pick Disease Type C in Neonatal Cholestasis.

Frontiers In Genetics

Wang, Neng-Li NL; Chen, Lian L; Lu, Yi Y; Xie, Xin-Bao XB; Lin, Jing J; Abuduxikuer, Kuerbanjiang K; Wang, Jian-She JS

Publication Date: 2022

Variant appearance in text: NPC1: 1211G>A; R404Q

PubMed Link: 35368683

Variant Present in the following documents:

• Main text
• fgene-13-867413.pdf

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Application of a next-generation sequencing (NGS) panel in newborn screening efficiently identifies inborn disorders of neonates.

Orphanet Journal Of Rare Diseases

Huang, Xinwen X; Wu, Dingwen D; Zhu, Lin L; Wang, Wenjun W; Yang, Rulai R; Yang, Jianbin J; He, Qunyan Q; Zhu, Bingquan B; You, Ying Y; Xiao, Rui R; Zhao, Zhengyan Z

Publication Date: 2022-02-21

Variant appearance in text: NPC1: 1211G>A

PubMed Link: 35193651

Variant Present in the following documents:

• 13023_2022_2231_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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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: 1211G>A; R404Q

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: 1211G>A; R404Q

PubMed Link: 35140266

Variant Present in the following documents:

• Main text
• 41598_2022_Article_6112.pdf

View BVdb publication page

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Elevated granulocyte-colony stimulating factor and hematopoietic stem cell mobilization in Niemann-Pick type C1 disease.

Journal Of Lipid Research

Groenen, Anouk G AG; La Rose, Anouk M AM; Li, Mengying M; Bazioti, Venetia V; Svendsen, Arthur F AF; Kloosterhuis, Niels J NJ; Ausema, Albertina A; Pranger, Alle A; Heiner-Fokkema, M Rebecca MR; Niezen-Koning, Klary E KE; Houben, Tom T; Shiri-Sverdlov, Ronit R; Westerterp, Marit M

Publication Date: 2022-02

Variant appearance in text: NPC1: 1211G>A; Arg404Gln

PubMed Link: 35007562

Variant Present in the following documents:

• Main text
• main.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: rs139751448

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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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: R404Q

PubMed Link: 33021976

Variant Present in the following documents:

• Main text
• pcbi.1007554.pdf

View BVdb publication page

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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: 1211G>A; R404Q

PubMed Link: 32709131

Variant Present in the following documents:

• Main text
• ijms-21-05059.pdf

View BVdb publication page

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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: 1211G>A; R404Q

PubMed Link: 32222928

Variant Present in the following documents:

• Main text
• 415_2020_Article_9796.pdf

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Endosome motility defects revealed at super-resolution in live cells using HIDE probes.

Nature Chemical Biology

Gupta, Aarushi A; Rivera-Molina, Felix F; Xi, Zhiqun Z; Toomre, Derek D; Schepartz, Alanna A

Publication Date: 2020-04

Variant appearance in text: NPC1: R404Q

PubMed Link: 32094922

Variant Present in the following documents:

• Main text
• nihms-1549978.pdf

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The Israeli national population program of genetic carrier screening for reproductive purposes. How should it be continued?

Israel Journal Of Health Policy Research

Zlotogora, Joël J

Publication Date: 2019-12-16

Variant appearance in text: NPC1: 1211G>A; Arg404Gln

PubMed Link: 31839005

Variant Present in the following documents:

• 13584_2019_345_MOESM1_ESM.xlsx, sheet 3

View BVdb publication page

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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: R404Q

PubMed Link: 31699992

Variant Present in the following documents:

• 41467_2019_12969_MOESM1_ESM.pdf

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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: R404Q

PubMed Link: 31509197

Variant Present in the following documents:

• Main text

View BVdb publication page

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An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.

Database : The Journal Of Biological Databases And Curation

Famiglietti, M L ML; Estreicher, A A; Breuza, L L; Poux, S S; Redaschi, N N; Xenarios, I I; Bridge, A A; ,

Publication Date: 2019-01-01

Variant appearance in text: NPC1: 1211G>A; Arg404Gln

PubMed Link: 30937429

Variant Present in the following documents:

• famiglietti_supplementarytables1_rev_baz040.xlsx, sheet 1

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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: R404Q

PubMed Link: 30923329

Variant Present in the following documents:

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

View BVdb publication page

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Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.

American Journal Of Human Genetics

Wright, Caroline F CF; West, Ben B; Tuke, Marcus M; Jones, Samuel E SE; Patel, Kashyap K; Laver, Thomas W TW; Beaumont, Robin N RN; Tyrrell, Jessica J; Wood, Andrew R AR; Frayling, Timothy M TM; Hattersley, Andrew T AT; Weedon, Michael N MN

Publication Date: 2019-02-07

Variant appearance in text: NPC1: R404Q; rs139751448

PubMed Link: 30665703

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

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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: R404Q

PubMed Link: 28193631

Variant Present in the following documents:

• Main text

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Ataxia, dystonia and myoclonus in adult patients with Niemann-Pick type C.

Orphanet Journal Of Rare Diseases

Koens, L H LH; Kuiper, A A; Coenen, M A MA; Elting, J W J JW; de Vries, J J JJ; Engelen, M M; Koelman, J H T M JH; van Spronsen, F J FJ; Spikman, J M JM; de Koning, T J TJ; Tijssen, M A J MA

Publication Date: 2016-09-01

Variant appearance in text: NPC1: 1211G>A; Arg404Gln

PubMed Link: 27581084

Variant Present in the following documents:

• 13023_2016_Article_502.pdf

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Structure of human Niemann-Pick C1 protein.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Li, Xiaochun X; Wang, Jiawei J; Coutavas, Elias E; Shi, Hang H; Hao, Qi Q; Blobel, Günter G

Publication Date: 2016-07-19

Variant appearance in text: NPC1: R404Q

PubMed Link: 27307437

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: R404Q

PubMed Link: 27139891

Variant Present in the following documents:

• FEB2-590-1651-s001.pdf

View BVdb publication page

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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: 1211G>A; Arg404Gln

PubMed Link: 26666848

Variant Present in the following documents:

• Main text
• 12883_2015_Article_511.pdf

View BVdb publication page

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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: R404Q

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: R404Q

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 4

View BVdb publication page

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High incidence of unrecognized visceral/neurological late-onset Niemann-Pick disease, type C1, predicted by analysis of massively parallel sequencing data sets.

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

Wassif, Christopher A CA; Cross, Joanna L JL; Iben, James J; Sanchez-Pulido, Luis L; Cougnoux, Antony A; Platt, Frances M FM; Ory, Daniel S DS; Ponting, Chris P CP; Bailey-Wilson, Joan E JE; Biesecker, Leslie G LG; Porter, Forbes D FD

Publication Date: 2016-01

Variant appearance in text: NPC1: 1211G>A; R404Q; rs139751448

PubMed Link: 25764212

Variant Present in the following documents:

• Main text
• emss-62276.pdf

View BVdb publication page

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Niemann-Pick type C 1 function requires lumenal domain residues that mediate cholesterol-dependent NPC2 binding.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Deffieu, Maika S MS; Pfeffer, Suzanne R SR

Publication Date: 2011-11-22

Variant appearance in text: NPC1: R404Q

PubMed Link: 22065762

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: R404Q

PubMed Link: 19744920

Variant Present in the following documents:

• Main text

View BVdb publication page

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Niemann-Pick C variant detection by altered sphingolipid trafficking and correlation with mutations within a specific domain of NPC1.

American Journal Of Human Genetics

Sun, X X; Marks, D L DL; Park, W D WD; Wheatley, C L CL; Puri, V V; O'Brien, J F JF; Kraft, D L DL; Lundquist, P A PA; Patterson, M C MC; Pagano, R E RE; Snow, K K

Publication Date: 2001-06

Variant appearance in text: NPC1: R404Q

PubMed Link: 11349231

Variant Present in the following documents:

• Main text

View BVdb publication page

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