HRAS germline mutations impair LKB1/AMPK signaling and mitochondrial homeostasis in Costello syndrom...
HRAS germline mutations impair LKB1/AMPK signaling and mitochondrial homeostasis in Costello syndrome models
About this item
Full title
Author / Creator
Dard, Laetitia , Hubert, Christophe , Esteves, Pauline , Blanchard, Wendy , Bou About, Ghina , Baldasseroni, Lyla , Dumon, Elodie , Angelini, Chloe , Delourme, Mégane , Guyonnet-Dupérat, Véronique , Claverol, Stéphane , Fontenille, Laura , Kissa, Karima , Séguéla, Pierre-Emmanuel , Thambo, Jean-Benoît , Nicolas, Lévy , Herault, Yann , Bellance, Nadège , Dias Amoedo, Nivea , Magdinier, Frédérique , Sorg, Tania , Lacombe, Didier and Rossignol, Rodrigue
Publisher
United States: American Society for Clinical Investigation
Journal title
Language
English
Formats
Publication information
Publisher
United States: American Society for Clinical Investigation
Subjects
More information
Scope and Contents
Contents
Germline mutations that activate genes in the canonical RAS/MAPK signaling pathway are responsible for rare human developmental disorders known as RASopathies. Here, we analyzed the molecular determinants of Costello syndrome (CS) using a mouse model expressing HRAS p.G12S, patient skin fibroblasts, hiPSC-derived human cardiomyocytes, a HRAS p.G12V...
Alternative Titles
Full title
HRAS germline mutations impair LKB1/AMPK signaling and mitochondrial homeostasis in Costello syndrome models
Authors, Artists and Contributors
Author / Creator
Hubert, Christophe
Esteves, Pauline
Blanchard, Wendy
Bou About, Ghina
Baldasseroni, Lyla
Dumon, Elodie
Angelini, Chloe
Delourme, Mégane
Guyonnet-Dupérat, Véronique
Claverol, Stéphane
Fontenille, Laura
Kissa, Karima
Séguéla, Pierre-Emmanuel
Thambo, Jean-Benoît
Nicolas, Lévy
Herault, Yann
Bellance, Nadège
Dias Amoedo, Nivea
Magdinier, Frédérique
Sorg, Tania
Lacombe, Didier
Rossignol, Rodrigue
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_doaj_primary_oai_doaj_org_article_efecf1351ff2484ba90767b2754d4938
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_efecf1351ff2484ba90767b2754d4938
Other Identifiers
ISSN
1558-8238,0021-9738
E-ISSN
1558-8238
DOI
10.1172/JCI131053
