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: P474L

PubMed Link: 35892469

Variant Present in the following documents:

• IJNS-08-00039.pdf

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Systematic prediction of degrons and E3 ubiquitin ligase binding via deep learning.

Bmc Biology

Hou, Chao C; Li, Yuxuan Y; Wang, Mengyao M; Wu, Hong H; Li, Tingting T

Publication Date: 2022-07-14

Variant appearance in text: NPC1: P474L

PubMed Link: 35836176

Variant Present in the following documents:

• 12915_2022_1364_MOESM6_ESM.xlsx, sheet 3

View BVdb publication page

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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: 1421C>T; Pro474Leu

PubMed Link: 35404956

Variant Present in the following documents:

• pcbi.1010013.s002.xlsx, sheet 4

View BVdb publication page

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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: 1421C>T; P474L

PubMed Link: 35368683

Variant Present in the following documents:

• Main text
• fgene-13-867413.pdf

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Identification of novel mutations among Iranian NPC1 patients: a bioinformatics approach to predict pathogenic mutations.

Hereditas

Abtahi, Rezvan R; Karimzadeh, Parvaneh P; Aryani, Omid O; Akbarzadeh, Diba D; Salehpour, Shadab S; Rezayi, Alireza A; Tonekaboni, Seyed Hassan SH; Emameh, Reza Zolfaghari RZ; Houshmand, Massoud M

Publication Date: 2022-01-27

Variant appearance in text: NPC1: Pro474Leu

PubMed Link: 35086560

Variant Present in the following documents:

• Main text
• 41065_2022_Article_224.pdf

View BVdb publication page

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Identification of novel mutations among Iranian NPC1 patients: a bioinformatics approach to predict pathogenic mutations.

Hereditas

Abtahi, Rezvan R; Karimzadeh, Parvaneh P; Aryani, Omid O; Akbarzadeh, Diba D; Salehpour, Shadab S; Rezayi, Alireza A; Tonekaboni, Seyed Hassan SH; Emameh, Reza Zolfaghari RZ; Houshmand, Massoud M

Publication Date: 2022-01-27

Variant appearance in text: NPC1: Pro474Leu

PubMed Link: 35086560

Variant Present in the following documents:

• Main text
• 41065_2022_Article_224.pdf

View BVdb publication page

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Successful implementation of classical ketogenic dietary therapy in a patient with Niemann-Pick disease type C.

Molecular Genetics And Metabolism Reports

Höller, A A; Albrecht, U U; Baumgartner Sigl, S S; Zöggeler, T T; Ramoser, G G; Bernar, B B; Karall, D D; Scholl-Bürgi, S S

Publication Date: 2021-06

Variant appearance in text: NPC1: 1421C>T; Pro474Leu

PubMed Link: 33598405

Variant Present in the following documents:

• Main text
• main.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: rs372445155

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

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: 1421C>T; P474L

PubMed Link: 32709131

Variant Present in the following documents:

• Main text
• ijms-21-05059.pdf

View BVdb publication page

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mTOR Signaling and SREBP Activity Increase FADS2 Expression and Can Activate Sapienate Biosynthesis.

Cell Reports

Triki, Mouna M; Rinaldi, Gianmarco G; Planque, Melanie M; Broekaert, Dorien D; Winkelkotte, Alina M AM; Maier, Carina R CR; Janaki Raman, Sudha S; Vandekeere, Anke A; Van Elsen, Joke J; Orth, Martin F MF; Grünewald, Thomas G P TGP; Schulze, Almut A; Fendt, Sarah-Maria SM

Publication Date: 2020-06-23

Variant appearance in text: NPC1: P474L

PubMed Link: 32579932

Variant Present in the following documents:

• mmc5.xlsx, sheet 3

View BVdb publication page

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The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.

Cell Research

Cao, Yanan Y; Li, Lin L; Xu, Min M; Feng, Zhimin Z; Sun, Xiaohui X; Lu, Jieli J; Xu, Yu Y; Du, Peina P; Wang, Tiange T; Hu, Ruying R; Ye, Zhen Z; Shi, Lixin L; Tang, Xulei X; Yan, Li L; Gao, Zhengnan Z; Chen, Gang G; Zhang, Yinfei Y; Chen, Lulu L; Ning, Guang G; Bi, Yufang Y; Wang, Weiqing W; ,

Publication Date: 2020-09

Variant appearance in text: NPC1: 1421C>T; Pro474Leu; rs372445155

PubMed Link: 32355288

Variant Present in the following documents:

• 41422_2020_322_MOESM14_ESM.xlsx, sheet 1

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: P474L

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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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: P474L

PubMed Link: 32138288

Variant Present in the following documents:

• Main text
• jcm-09-00679.pdf

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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: P474L

PubMed Link: 30665703

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

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Phenotypic variability of Niemann-Pick disease type C including a case with clinically pure schizophrenia: a case report.

Bmc Neurology

Kawazoe, Tomoya T; Yamamoto, Toshiyuki T; Narita, Aya A; Ohno, Kousaku K; Adachi, Kaori K; Nanba, Eiji E; Noguchi, Atsuko A; Takahashi, Tsutomu T; Maekawa, Masamitsu M; Eto, Yoshikatsu Y; Ogawa, Masafumi M; Murata, Miho M; Takahashi, Yuji Y

Publication Date: 2018-08-17

Variant appearance in text: NPC1: P474L

PubMed Link: 30119649

Variant Present in the following documents:

• Main text
• 12883_2018_Article_1124.pdf

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: P474L

PubMed Link: 28421028

Variant Present in the following documents:

• Main text
• fneur-08-00108.pdf

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A Specially Designed Multi-Gene Panel Facilitates Genetic Diagnosis in Children with Intrahepatic Cholestasis: Simultaneous Test of Known Large Insertions/Deletions.

Plos One

Wang, Neng-Li NL; Lu, Yu-Lan YL; Zhang, Ping P; Zhang, Mei-Hong MH; Gong, Jing-Yu JY; Lu, Yi Y; Xie, Xin-Bao XB; Qiu, Yi-Ling YL; Yan, Yan-Yan YY; Wu, Bing-Bing BB; Wang, Jian-She JS

Publication Date: 2016

Variant appearance in text: NPC1: 1421C>T; P474L

PubMed Link: 27706244

Variant Present in the following documents:

• Main text
• pone.0164058.pdf

View BVdb publication page

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Structural Insights into the Niemann-Pick C1 (NPC1)-Mediated Cholesterol Transfer and Ebola Infection.

Cell

Gong, Xin X; Qian, Hongwu H; Zhou, Xinhui X; Wu, Jianping J; Wan, Tao T; Cao, Pingping P; Huang, Weiyun W; Zhao, Xin X; Wang, Xudong X; Wang, Peiyi P; Shi, Yi Y; Gao, George F GF; Zhou, Qiang Q; Yan, Nieng N

Publication Date: 2016-06-02

Variant appearance in text: NPC1: P474L

PubMed Link: 27238017

Variant Present in the following documents:

• mmc1.pdf
• mmc2.pdf

View BVdb publication page

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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: 1421C>T; P474L

PubMed Link: 26981555

Variant Present in the following documents:

• mmc1.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: P474L

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: P474L

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: 1421C>T; rs372445155

PubMed Link: 25764212

Variant Present in the following documents:

• Main text
• emss-62276.pdf

View BVdb publication page

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Early co-occurrence of a neurologic-psychiatric disease pattern in Niemann-Pick type C disease: a retrospective Swiss cohort study.

Orphanet Journal Of Rare Diseases

Abela, Lucia L; Plecko, Barbara B; Palla, Antonella A; Burda, Patricie P; Nuoffer, Jean-Marc JM; Ballhausen, Diana D; Rohrbach, Marianne M

Publication Date: 2014-11-26

Variant appearance in text: NPC1: Pro474Leu

PubMed Link: 25425405

Variant Present in the following documents:

• Main text
• 13023_2014_Article_176.pdf

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: 1421C>T; P474L

PubMed Link: 25236789

Variant Present in the following documents:

• Main text
• 13023_2014_Article_140.pdf

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: P474L

PubMed Link: 23433426

Variant Present in the following documents:

• 1750-1172-8-35.pdf

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: P474L

PubMed Link: 19744920

Variant Present in the following documents:

• Main text

View BVdb publication page

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