Publications:

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: 3571C>T; L1191F

PubMed Link: 32138288

Variant Present in the following documents:

• Main text
• jcm-09-00679.pdf

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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: L1191F

PubMed Link: 31699992

Variant Present in the following documents:

• 41467_2019_12969_MOESM1_ESM.pdf
• 41467_2019_Article_12969.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: L1191F

PubMed Link: 31509197

Variant Present in the following documents:

• Main text

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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: L1191F

PubMed Link: 30988500

Variant Present in the following documents:

• Main text
• 41598_2019_Article_42584.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: 3571C>T; L1191F

PubMed Link: 23430855

Variant Present in the following documents:

• Main text

View BVdb publication page