Publications:

c-Abl Inhibition Activates TFEB and Promotes Cellular Clearance in a Lysosomal Disorder.

Iscience

Contreras, Pablo S PS; Tapia, Pablo J PJ; González-Hódar, Lila L; Peluso, Ivana I; Soldati, Chiara C; Napolitano, Gennaro G; Matarese, Maria M; Heras, Macarena Las ML; Valls, Cristian C; Martinez, Alexis A; Balboa, Elisa E; Castro, Juan J; Leal, Nancy N; Platt, Frances M FM; Sobota, Andrzej A; Winter, Dominic D; Klein, Andrés D AD; Medina, Diego L DL; Ballabio, Andrea A; Alvarez, Alejandra R AR; Zanlungo, Silvana S

Publication Date: 2020-11-20

Variant appearance in text: NPC1: 2795+1G>C

PubMed Link: 33163944

Variant Present in the following documents:

• mmc1.pdf
• main.pdf

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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: 2795+1G>C

PubMed Link: 32138288

Variant Present in the following documents:

• Main text
• jcm-09-00679.pdf

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A human neuronal model of Niemann Pick C disease developed from stem cells isolated from patient's skin.

Orphanet Journal Of Rare Diseases

Bergamin, Natascha N; Dardis, Andrea A; Beltrami, Antonio A; Cesselli, Daniela D; Rigo, Silvia S; Zampieri, Stefania S; Domenis, Rossana R; Bembi, Bruno B; Beltrami, Carlo Alberto CA

Publication Date: 2013-02-21

Variant appearance in text: NPC1: 2795+1G>C

PubMed Link: 23433359

Variant Present in the following documents:

• Main text
• 1750-1172-8-34.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: 2795+1G>C

PubMed Link: 23430855

Variant Present in the following documents:

• Main text

View BVdb publication page