Publications:

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Experience of the NPC Brazil Network with a Comprehensive Program for the Screening and Diagnosis of Niemann-Pick Disease Type C.

International Journal Of Neonatal Screening

Kubaski, Francyne F; Burlina, Alberto A; Polo, Giulia G; Pereira, Danilo D; Herbst, Zackary M ZM; Silva, Camilo C; Trapp, Franciele B FB; Michelin-Tirelli, Kristiane K; Lopes, Franciele F FF; Burin, Maira G MG; Brusius-Facchin, Ana Carolina AC; Netto, Alice B O ABO; Faqueti, Larissa L; Iop, Gabrielle D GD; Poletto, Edina E; Giugliani, Roberto R

Publication Date: 2022-06-28

Variant appearance in text: NPC1: S954L

PubMed Link: 35892469

Variant Present in the following documents:

• IJNS-08-00039.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: 2861C>T; Ser954Leu

PubMed Link: 35404956

Variant Present in the following documents:

• pcbi.1010013.s002.xlsx, sheet 4

View BVdb publication page

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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: 2861C>T

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: 2861C>T; S954L

PubMed Link: 35140266

Variant Present in the following documents:

• Main text
• 41598_2022_Article_6112.pdf

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: 2861C>T; S954L

PubMed Link: 35140266

Variant Present in the following documents:

• Main text
• 41598_2022_Article_6112.pdf

View BVdb publication page

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Answer ALS, a large-scale resource for sporadic and familial ALS combining clinical and multi-omics data from induced pluripotent cell lines.

Nature Neuroscience

Baxi, Emily G EG; Thompson, Terri T; Li, Jonathan J; Kaye, Julia A JA; Lim, Ryan G RG; Wu, Jie J; Ramamoorthy, Divya D; Lima, Leandro L; Vaibhav, Vineet V; Matlock, Andrea A; Frank, Aaron A; Coyne, Alyssa N AN; Landin, Barry B; Ornelas, Loren L; Mosmiller, Elizabeth E; Thrower, Sara S; Farr, S Michelle SM; Panther, Lindsey L; Gomez, Emilda E; Galvez, Erick E; Perez, Daniel D; Meepe, Imara I; Lei, Susan S; Mandefro, Berhan B; Trost, Hannah H; Pinedo, Louis L; Banuelos, Maria G MG; Liu, Chunyan C; Moran, Ruby R; Garcia, Veronica V; Workman, Michael M; Ho, Richie R; Wyman, Stacia S; Roggenbuck, Jennifer J; Harms, Matthew B MB; Stocksdale, Jennifer J; Miramontes, Ricardo R; Wang, Keona K; Venkatraman, Vidya V; Holewenski, Ronald R; Sundararaman, Niveda N; Pandey, Rakhi R; Manalo, Danica-Mae DM; Donde, Aneesh A; Huynh, Nhan N; Adam, Miriam M; Wassie, Brook T BT; Vertudes, Edward E; Amirani, Naufa N; Raja, Krishna K; Thomas, Reuben R; Hayes, Lindsey L; Lenail, Alex A; Cerezo, Aianna A; Luppino, Sarah S; Farrar, Alanna A; Pothier, Lindsay L; Prina, Carolyn C; Morgan, Todd T; Jamil, Arish A; Heintzman, Sarah S; Jockel-Balsarotti, Jennifer J; Karanja, Elizabeth E; Markway, Jesse J; McCallum, Molly M; Joslin, Ben B; Alibazoglu, Deniz D; Kolb, Stephen S; Ajroud-Driss, Senda S; Baloh, Robert R; Heitzman, Daragh D; Miller, Tim T; Glass, Jonathan D JD; Patel-Murray, Natasha Leanna NL; Yu, Hong H; Sinani, Ervin E; Vigneswaran, Prasha P; Sherman, Alexander V AV; Ahmad, Omar O; Roy, Promit P; Beavers, Jay C JC; Zeiler, Steven S; Krakauer, John W JW; Agurto, Carla C; Cecchi, Guillermo G; Bellard, Mary M; Raghav, Yogindra Y; Sachs, Karen K; Ehrenberger, Tobias T; Bruce, Elizabeth E; Cudkowicz, Merit E ME; Maragakis, Nicholas N; Norel, Raquel R; Van Eyk, Jennifer E JE; Finkbeiner, Steven S; Berry, James J; Sareen, Dhruv D; Thompson, Leslie M LM; Fraenkel, Ernest E; Svendsen, Clive N CN; Rothstein, Jeffrey D JD

Publication Date: 2022-02

Variant appearance in text: NPC1: S954L; rs543206298

PubMed Link: 35115730

Variant Present in the following documents:

• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 7

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: 2861C>T; Ser954Leu

PubMed Link: 35007562

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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Vertical saccadic palsy and foveal retinal thinning in Niemann-Pick disease type C.

Plos One

Hopf, Susanne S; Hennermann, Julia B JB; Schuster, Alexander K AK; Pfeiffer, Norbert N; Pitz, Susanne S

Publication Date: 2021

Variant appearance in text: NPC1: S954L

PubMed Link: 34086834

Variant Present in the following documents:

• pone.0252825.s001.pdf

View BVdb publication page

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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: rs543206298

PubMed Link: 33139814

Variant Present in the following documents:

• 41598_2020_75919_MOESM2_ESM.xlsx, sheet 1
• 41598_2020_75919_MOESM2_ESM.xlsx, sheet 3

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: 2861C>T; S954L

PubMed Link: 32709131

Variant Present in the following documents:

• Main text
• ijms-21-05059.pdf

View BVdb publication page

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Transcript, protein, metabolite and cellular studies in skin fibroblasts demonstrate variable pathogenic impacts of NPC1 mutations.

Orphanet Journal Of Rare Diseases

Musalkova, Dita D; Majer, Filip F; Kuchar, Ladislav L; Luksan, Ondrej O; Asfaw, Befekadu B; Vlaskova, Hana H; Storkanova, Gabriela G; Reboun, Martin M; Poupetova, Helena H; Jahnova, Helena H; Hulkova, Helena H; Ledvinova, Jana J; Dvorakova, Lenka L; Sikora, Jakub J; Jirsa, Milan M; Vanier, Marie T MT; Hrebicek, Martin M

Publication Date: 2020-04-05

Variant appearance in text: NPC1: S954L

PubMed Link: 32248828

Variant Present in the following documents:

• Main text
• 13023_2020_Article_1360.pdf
• 13023_2020_1360_MOESM1_ESM.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: 2861C>T; S954L

PubMed Link: 32222928

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: 2861C>T; S954L

PubMed Link: 32138288

Variant Present in the following documents:

• Main text
• jcm-09-00679.pdf

View BVdb publication page

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Precision medicine integrating whole-genome sequencing, comprehensive metabolomics, and advanced imaging.

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

Hou, Ying-Chen Claire YC; Yu, Hung-Chun HC; Martin, Rick R; Cirulli, Elizabeth T ET; Schenker-Ahmed, Natalie M NM; Hicks, Michael M; Cohen, Isaac V IV; Jönsson, Thomas J TJ; Heister, Robyn R; Napier, Lori L; Swisher, Christine Leon CL; Dominguez, Saints S; Tang, Haibao H; Li, Weizhong W; Perkins, Bradley A BA; Barea, Jaime J; Rybak, Christina C; Smith, Emily E; Duchicela, Keegan K; Doney, Michael M; Brar, Pamila P; Hernandez, Nathaniel N; Kirkness, Ewen F EF; Kahn, Andrew M AM; Venter, J Craig JC; Karow, David S DS; Caskey, C Thomas CT

Publication Date: 2020-02-11

Variant appearance in text: NPC1: 2861C>T; Ser954Leu

PubMed Link: 31980526

Variant Present in the following documents:

• pnas.1909378117.sd01.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: S954L

PubMed Link: 31699992

Variant Present in the following documents:

• Main text
• 41467_2019_12969_MOESM1_ESM.pdf
• 41467_2019_Article_12969.pdf

View BVdb publication page

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Determination of the Pathological Features of NPC1 Variants in a Cellular Complementation Test.

International Journal Of Molecular Sciences

Feng, Xiao X; Cozma, Claudia C; Pantoom, Supansa S; Hund, Christina C; Iwanov, Katharina K; Petters, Janine J; Völkner, Christin C; Bauer, Claudia C; Vogel, Florian F; Bauer, Peter P; Weiss, Frank U FU; Lerch, Markus M MM; Knospe, Anne-Marie AM; Hermann, Andreas A; Frech, Moritz J MJ; Luo, Jiankai J; Rolfs, Arndt A; Lukas, Jan J

Publication Date: 2019-10-19

Variant appearance in text: NPC1: 2861C>T; Ser954Leu; rs543206298

PubMed Link: 31635081

Variant Present in the following documents:

• Main text

View BVdb publication page

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Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.

Plos Genetics

Capalbo, Antonio A; Valero, Roberto Alonso RA; Jimenez-Almazan, Jorge J; Pardo, Pere Mir PM; Fabiani, Marco M; Jiménez, David D; Simon, Carlos C; Rodriguez, Julio Martin JM

Publication Date: 2019-10

Variant appearance in text: NPC1: 2861C>T; Ser954Leu; rs543206298

PubMed Link: 31589614

Variant Present in the following documents:

• pgen.1008409.s001.xlsx, sheet 1

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: S954L

PubMed Link: 31509197

Variant Present in the following documents:

• Main text

View BVdb publication page

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Late-onset Niemann-Pick disease type C overlapping with frontotemporal dementia syndromes: a case report.

Journal Of Neural Transmission (Vienna, Austria : 1996)

Balázs, Nóra N; Milanovich, Dániel D; Hornyák, Csilla C; Bereczki, Dániel D; Kovács, Tibor T

Publication Date: 2019-11

Variant appearance in text: NPC1: S954L

PubMed Link: 31506735

Variant Present in the following documents:

• Main text
• 702_2019_Article_2058.pdf

View BVdb publication page

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Whole-exome sequencing provides insights into monogenic disease prevalence in Northwest Russia.

Molecular Genetics & Genomic Medicine

Barbitoff, Yury A YA; Skitchenko, Rostislav K RK; Poleshchuk, Olga I OI; Shikov, Anton E AE; Serebryakova, Elena A EA; Nasykhova, Yulia A YA; Polev, Dmitrii E DE; Shuvalova, Anna R AR; Shcherbakova, Irina V IV; Fedyakov, Mikhail A MA; Glotov, Oleg S OS; Glotov, Andrey S AS; Predeus, Alexander V AV

Publication Date: 2019-11

Variant appearance in text: rs543206298

PubMed Link: 31482689

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: 2861C>T; Ser954Leu

PubMed Link: 30937429

Variant Present in the following documents:

• famiglietti_supplementarytables1_rev_baz040.xlsx, sheet 1

View BVdb publication page

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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: 2861C>T; Ser954Leu; rs543206298

PubMed Link: 28957316

Variant Present in the following documents:

• pgen.1006915.s002.xlsx, sheet 1

View BVdb publication page

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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: 2861C>T; Ser954Leu

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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Adult-Onset Niemann-Pick Disease Type C: Rapid Treatment Initiation Advised but Early Diagnosis Remains Difficult.

Frontiers In Neurology

Piroth, Tobias T; Boelmans, Kai K; Amtage, Florian F; Rijntjes, Michel M; Wierciochin, Anna A; Musacchio, Thomas T; Weiller, Cornelius C; Volkmann, Jens J; Klebe, Stephan S

Publication Date: 2017

Variant appearance in text: NPC1: S954L

PubMed Link: 28421028

Variant Present in the following documents:

• Main text
• fneur-08-00108.pdf

View BVdb publication page

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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: 2861C>T; Ser954Leu

PubMed Link: 27581084

Variant Present in the following documents:

• 13023_2016_Article_502.pdf

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: S954L

PubMed Link: 27139891

Variant Present in the following documents:

• FEB2-590-1651-s001.pdf

View BVdb publication page

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Normalisation of brain spectroscopy findings in Niemann-Pick disease type C patients treated with miglustat.

Journal Of Neurology

Sedel, Frédéric F; Chabrol, Brigitte B; Audoin, Bertrand B; Kaphan, Elsa E; Tranchant, Christine C; Burzykowski, Tomasz T; Tourbah, Ayman A; Vanier, Marie T MT; Galanaud, Damien D

Publication Date: 2016-05

Variant appearance in text: NPC1: S954L

PubMed Link: 26984608

Variant Present in the following documents:

• Main text

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: 2861C>T; Ser954Leu

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: S954L

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: S954L

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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Observational, retrospective study of a large cohort of patients with Niemann-Pick disease type C in the Czech Republic: a surprisingly stable diagnostic rate spanning almost 40 years.

Orphanet Journal Of Rare Diseases

Jahnova, Helena H; Dvorakova, Lenka L; Vlaskova, Hana H; Hulkova, Helena H; Poupetova, Helena H; Hrebicek, Martin M; Jesina, Pavel P

Publication Date: 2014-09-19

Variant appearance in text: NPC1: 2861C>T; S954L

PubMed Link: 25236789

Variant Present in the following documents:

• Main text

View BVdb publication page

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Diagnosis of Niemann-Pick disease type C with 7-ketocholesterol screening followed by NPC1/NPC2 gene mutation confirmation in Chinese patients.

Orphanet Journal Of Rare Diseases

Zhang, Huiwen H; Wang, Yu Y; Lin, Na N; Yang, Rui R; Qiu, Wenjuan W; Han, Lianshu L; Ye, Jun J; Gu, Xuefan X

Publication Date: 2014-06-10

Variant appearance in text: NPC1: 2861C>T; S954L

PubMed Link: 24915861

Variant Present in the following documents:

• Main text
• 1750-1172-9-82.pdf

View BVdb publication page

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Genetic screening for Niemann-Pick disease type C in adults with neurological and psychiatric symptoms: findings from the ZOOM study.

Human Molecular Genetics

Bauer, Peter P; Balding, David J DJ; Klünemann, Hans H HH; Linden, David E J DE; Ory, Daniel S DS; Pineda, Mercè M; Priller, Josef J; Sedel, Frederic F; Muller, Audrey A; Chadha-Boreham, Harbajan H; Welford, Richard W D RW; Strasser, Daniel S DS; Patterson, Marc C MC

Publication Date: 2013-11-01

Variant appearance in text: NPC1: 2861C>T; Ser954Leu

PubMed Link: 23773996

Variant Present in the following documents:

• Main text

View BVdb publication page

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Niemann-Pick disease type C clinical database: cognitive and coordination deficits are early disease indicators.

Orphanet Journal Of Rare Diseases

Stampfer, Miriam M; Theiss, Susanne S; Amraoui, Yasmina Y; Jiang, Xuntian X; Keller, Sigrid S; Ory, Daniel S DS; Mengel, Eugen E; Fischer, Christine C; Runz, Heiko H

Publication Date: 2013-02-22

Variant appearance in text: NPC1: S954L

PubMed Link: 23433426

Variant Present in the following documents:

• 1750-1172-8-35.pdf

View BVdb publication page

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