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: T1205K

PubMed Link: 35892469

Variant Present in the following documents:

• IJNS-08-00039.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: 3614C>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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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: rs758902805

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: 3614C>A; T1205K

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: T1205K

PubMed Link: 32248828

Variant Present in the following documents:

• Main text
• 13023_2020_1360_MOESM1_ESM.pdf
• 13023_2020_Article_1360.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: 3614C>A; T1205K

PubMed Link: 32138288

Variant Present in the following documents:

• Main text
• jcm-09-00679.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: T1205K

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: 3614C>A; Thr1205Lys

PubMed Link: 30937429

Variant Present in the following documents:

• famiglietti_supplementarytables1_rev_baz040.xlsx, sheet 1

View BVdb publication page

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Clinical implementation of gene panel testing for lysosomal storage diseases.

Molecular Genetics & Genomic Medicine

Gheldof, Alexander A; Seneca, Sara S; Stouffs, Katrien K; Lissens, Willy W; Jansen, Anna A; Laeremans, Hilde H; Verloo, Patrick P; Schoonjans, An-Sofie AS; Meuwissen, Marije M; Barca, Diana D; Martens, Geert G; De Meirleir, Linda L

Publication Date: 2019-02

Variant appearance in text: NPC1: 3614C>A; Thr1205Lys

PubMed Link: 30548430

Variant Present in the following documents:

• Main text
• MGG3-7-na.pdf

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: 3614C>A; Thr1205Lys; rs758902805

PubMed Link: 28957316

Variant Present in the following documents:

• pgen.1006915.s002.xlsx, sheet 1

View BVdb publication page

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Rapid whole-genome sequencing identifies a novel homozygous NPC1 variant associated with Niemann-Pick type C1 disease in a 7-week-old male with cholestasis.

Cold Spring Harbor Molecular Case Studies

Hildreth, Amber A; Wigby, Kristen K; Chowdhury, Shimul S; Nahas, Shareef S; Barea, Jaime J; Ordonez, Paulina P; Batalov, Sergey S; Dimmock, David D; Kingsmore, Stephen S; ,

Publication Date: 2017-09

Variant appearance in text: NPC1: Thr1205Lys

PubMed Link: 28550066

Variant Present in the following documents:

• Main text
• HildrethMCS001966.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: 3614C>A; Thr1205Lys

PubMed Link: 27581084

Variant Present in the following documents:

• 13023_2016_Article_502.pdf

View BVdb publication page

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Expanding preconception carrier screening for the Jewish population using high throughput microfluidics technology and next generation sequencing.

Bmc Medical Genomics

Gal, Moran M; Khermesh, Khen K; Barak, Michal M; Lin, Min M; Lahat, Hadas H; Reznik Wolf, Haike H; Lin, Michael M; Pras, Elon E; Levanon, Erez Y EY

Publication Date: 2016-05-13

Variant appearance in text: NPC1: T1205K

PubMed Link: 27175728

Variant Present in the following documents:

• 12920_2016_184_MOESM1_ESM.xls, sheet 1

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: T1205K

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

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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: T1205K

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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Long term follow-up to evaluate the efficacy of miglustat treatment in Italian patients with Niemann-Pick disease type C.

Orphanet Journal Of Rare Diseases

Fecarotta, Simona S; Romano, Alfonso A; Della Casa, Roberto R; Del Giudice, Ennio E; Bruschini, Diana D; Mansi, Giuseppina G; Bembi, Bruno B; Dardis, Andrea A; Fiumara, Agata A; Di Rocco, Maja M; Uziel, Graziella G; Ardissone, Anna A; Roccatello, Dario D; Alpa, Mirella M; Bertini, Enrico E; D'Amico, Adele A; Dionisi-Vici, Carlo C; Deodato, Federica F; Caviglia, Stefania S; Federico, Antonio A; Palmeri, Silvia S; Gabrielli, Orazio O; Santoro, Lucia L; Filla, Alessandro A; Russo, Cinzia C; Parenti, Giancarlo G; Andria, Generoso G

Publication Date: 2015-02-27

Variant appearance in text: NPC1: 3614C>A; T1205K

PubMed Link: 25888393

Variant Present in the following documents:

• 13023_2015_240_MOESM1_ESM.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: 3614C>A; T1205K

PubMed Link: 25236789

Variant Present in the following documents:

• Main text
• 13023_2014_Article_140.pdf

View BVdb publication page

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Treatment of Human Fibroblasts Carrying NPC1 Missense Mutations with MG132 Leads to an Improvement of Intracellular Cholesterol Trafficking.

Jimd Reports

Zampieri, Stefania S; Bembi, Bruno B; Rosso, Natalia N; Filocamo, Mirella M; Dardis, Andrea A

Publication Date: 2012

Variant appearance in text: NPC1: 3614C>A; T1205K

PubMed Link: 23430855

Variant Present in the following documents:

• Main text

View BVdb publication page

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