Publications:

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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: rs781261962

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

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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: 3056A>G; Y1019C

PubMed Link: 32138288

Variant Present in the following documents:

• Main text
• jcm-09-00679.pdf

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Gene expression profile in patients with Gaucher disease indicates activation of inflammatory processes.

Scientific Reports

Ługowska, Agnieszka A; Hetmańczyk-Sawicka, Katarzyna K; Iwanicka-Nowicka, Roksana R; Fogtman, Anna A; Cieśla, Jarosław J; Purzycka-Olewiecka, Joanna Karolina JK; Sitarska, Dominika D; Płoski, Rafał R; Filocamo, Mirella M; Lualdi, Susanna S; Bednarska-Makaruk, Małgorzata M; Koblowska, Marta M

Publication Date: 2019-04-15

Variant appearance in text: NPC1: Y1019C

PubMed Link: 30988500

Variant Present in the following documents:

• Main text
• 41598_2019_Article_42584.pdf

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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: Tyr1019Cys

PubMed Link: 28550066

Variant Present in the following documents:

• Main text
• HildrethMCS001966.pdf

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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: Y1019C

PubMed Link: 26981555

Variant Present in the following documents:

• mmc1.pdf

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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: 3056A>G; Y1019C

PubMed Link: 25888393

Variant Present in the following documents:

• 13023_2015_240_MOESM1_ESM.pdf

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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: 3056A>G; Y1019C

PubMed Link: 23430855

Variant Present in the following documents:

• Main text

View BVdb publication page

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