Publications:

---

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: 1553G>A

PubMed Link: 35193651

Variant Present in the following documents:

• 13023_2022_2231_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

---

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: Arg518Gln

PubMed Link: 35086560

Variant Present in the following documents:

• Main text
• 41065_2022_Article_224.pdf

View BVdb publication page

---

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: Arg518Gln

PubMed Link: 35086560

Variant Present in the following documents:

• Main text
• 41065_2022_Article_224.pdf

View BVdb publication page

---

Efficacy and safety of arimoclomol in Niemann-Pick disease type C: Results from a double-blind, randomised, placebo-controlled, multinational phase 2/3 trial of a novel treatment.

Journal Of Inherited Metabolic Disease

Mengel, Eugen E; Patterson, Marc C MC; Da Riol, Rosalia M RM; Del Toro, Mireia M; Deodato, Federica F; Gautschi, Matthias M; Grunewald, Stephanie S; Grønborg, Sabine S; Harmatz, Paul P; Héron, Bénédicte B; Maier, Esther M EM; Roubertie, Agathe A; Santra, Saikat S; Tylki-Szymanska, Anna A; Day, Simon S; Andreasen, Anne Katrine AK; Geist, Marie Aavang MA; Havnsøe Torp Petersen, Nikolaj N; Ingemann, Linda L; Hansen, Thomas T; Blaettler, Thomas T; Kirkegaard, Thomas T; Í Dali, Christine C

Publication Date: 2021-11

Variant appearance in text: NPC1: R518Q

PubMed Link: 34418116

Variant Present in the following documents:

• Main text
• JIMD-44-1463.pdf

View BVdb publication page

---

Molecular dynamics study with mutation shows that N-terminal domain structural re-orientation in Niemann-Pick type C1 is required for proper alignment of cholesterol transport.

Journal Of Neurochemistry

Yoon, Hye-Jin HJ; Jeong, Hyunah H; Lee, Hyung Ho HH; Jang, Soonmin S

Publication Date: 2021-03

Variant appearance in text: NPC1: R518Q

PubMed Link: 32880929

Variant Present in the following documents:

• JNC-9999-na.pdf

View BVdb publication page

---

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: 1553G>A; R518Q

PubMed Link: 32709131

Variant Present in the following documents:

• Main text
• ijms-21-05059.pdf

View BVdb publication page

---

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: 1553G>A; R518Q

PubMed Link: 32138288

Variant Present in the following documents:

• Main text
• jcm-09-00679.pdf

View BVdb publication page

---

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: R518Q

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

---

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: 1553G>A; Arg518Gln

PubMed Link: 30937429

Variant Present in the following documents:

• famiglietti_supplementarytables1_rev_baz040.xlsx, sheet 1

View BVdb publication page

---

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: 1553G>A; Arg518Gln; rs483352886

PubMed Link: 28957316

Variant Present in the following documents:

• pgen.1006915.s002.xlsx, sheet 1

View BVdb publication page

---

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: 1553G>A; Arg518Gln

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

---

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: R518Q

PubMed Link: 28193631

Variant Present in the following documents:

• Main text

View BVdb publication page

---

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: R518Q

PubMed Link: 27307437

Variant Present in the following documents:

• Main text

View BVdb publication page

---

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: R518Q

PubMed Link: 27238017

Variant Present in the following documents:

• Main text
• main.pdf
• mmc2.pdf

View BVdb publication page

---

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: 1553G>A; Arg518Gln

PubMed Link: 26666848

Variant Present in the following documents:

• Main text
• 12883_2015_Article_511.pdf

View BVdb publication page

---

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: R518Q

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

---

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: R518Q

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 4

View BVdb publication page

---

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: 1553G>A; R518Q

PubMed Link: 24915861

Variant Present in the following documents:

• Main text
• 1750-1172-9-82.pdf

View BVdb publication page

---

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: R518Q

PubMed Link: 22065762

Variant Present in the following documents:

• Main text

View BVdb publication page

---

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: R518Q

PubMed Link: 19744920

Variant Present in the following documents:

• Main text

View BVdb publication page

---