Publications:

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Use of dual genomic sequencing to screen mitochondrial diseases in pediatrics: a retrospective analysis.

Scientific Reports

Wu, Teng-Hui TH; Peng, Jing J; Yang, Li L; Chen, Yan-Hui YH; Lu, Xiu-Lan XL; Huang, Jiao-Tian JT; You, Jie-Yu JY; Ou-Yang, Wen-Xian WX; Sun, Yue-Yu YY; Xue, Yi-Nan YN; Mao, Xiao X; Yan, Hui-Ming HM; Ren, Rong-Na RN; Xie, Jing J; Chen, Zhi-Heng ZH; Zhang, Victor-Wei VW; Lyu, Gui-Zhen GZ; He, Fang F

Publication Date: 2023-03-14

Variant appearance in text: NPC1: 3425T>C; M1142T

PubMed Link: 36918699

Variant Present in the following documents:

• 41598_2023_31134_MOESM1_ESM.pdf

View BVdb publication page

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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: M1142T

PubMed Link: 35892469

Variant Present in the following documents:

• IJNS-08-00039.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: 3425T>C; M1142T

PubMed Link: 35368683

Variant Present in the following documents:

• Main text
• fgene-13-867413.pdf

View BVdb publication page

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Two Patients with Niemann Pick Disease Type C Diagnosed in the Seventh Decade of Life.

Movement Disorders Clinical Practice

Wu, Melanie M; Ceponiene, Rita R; Bayram, Ece E; Litvan, Irene I

Publication Date: 2020-11

Variant appearance in text: NPC1: Met1142Thr

PubMed Link: 33163568

Variant Present in the following documents:

• Main text

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: rs778878523

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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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: M1142T

PubMed Link: 32138288

Variant Present in the following documents:

• Main text
• jcm-09-00679.pdf

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: M1142T

PubMed Link: 31699992

Variant Present in the following documents:

• 41467_2019_12969_MOESM1_ESM.pdf

View BVdb publication page

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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: M1142T

PubMed Link: 30923329

Variant Present in the following documents:

• Main text
• 41598_2019_41707_MOESM1_ESM.pdf
• 41598_2019_Article_41707.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: M1142T

PubMed Link: 30665703

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

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Long-Term Treatment of Niemann-Pick Type C1 Disease With Intrathecal 2-Hydroxypropyl-β-Cyclodextrin.

Pediatric Neurology

Berry-Kravis, Elizabeth E; Chin, Jamie J; Hoffmann, Anne A; Winston, Amy A; Stoner, Robin R; LaGorio, Lisa L; Friedmann, Katherine K; Hernandez, Mariana M; Ory, Daniel S DS; Porter, Forbes D FD; O'Keefe, Joan A JA

Publication Date: 2018-03

Variant appearance in text: NPC1: 3425T>C; Met1142Thr

PubMed Link: 29429782

Variant Present in the following documents:

• Main text

View BVdb publication page

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Increased burden of ultra-rare protein-altering variants among 4,877 individuals with schizophrenia.

Nature Neuroscience

Genovese, Giulio G; Fromer, Menachem M; Stahl, Eli A EA; Ruderfer, Douglas M DM; Chambert, Kimberly K; Landén, Mikael M; Moran, Jennifer L JL; Purcell, Shaun M SM; Sklar, Pamela P; Sullivan, Patrick F PF; Hultman, Christina M CM; McCarroll, Steven A SA

Publication Date: 2016-11

Variant appearance in text: NPC1: 3425T>C; Met1142Thr

PubMed Link: 27694994

Variant Present in the following documents:

• NIHMS815183-supplement-supp_table3.xlsx, sheet 1

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: M1142T

PubMed Link: 27238017

Variant Present in the following documents:

• mmc1.pdf
• mmc2.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: M1142T

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: M1142T

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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Atypical multisensory integration in Niemann-Pick type C disease - towards potential biomarkers.

Orphanet Journal Of Rare Diseases

Andrade, Gizely N GN; Molholm, Sophie S; Butler, John S JS; Brandwein, Alice B AB; Walkley, Steven U SU; Foxe, John J JJ

Publication Date: 2014-09-20

Variant appearance in text: NPC1: M1142T

PubMed Link: 25239094

Variant Present in the following documents:

• Main text
• 13023_2014_Article_149.pdf

View BVdb publication page

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Niemann-Pick C1 disease: correlations between NPC1 mutations, levels of NPC1 protein, and phenotypes emphasize the functional significance of the putative sterol-sensing domain and of the cysteine-rich luminal loop.

American Journal Of Human Genetics

Millat, G G; Marçais, C C; Tomasetto, C C; Chikh, K K; Fensom, A H AH; Harzer, K K; Wenger, D A DA; Ohno, K K; Vanier, M T MT

Publication Date: 2001-06

Variant appearance in text: NPC1: M1142T

PubMed Link: 11333381

Variant Present in the following documents:

• Main text

View BVdb publication page

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