HRAS germline mutations impair LKB1/AMPK signaling and mitochondrial homeostasis in Costello syndrome models

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,...

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Detalles Bibliográficos
Autores principales: 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, Rossignol, Rodrigue
Formato: Online Artículo Texto
Lenguaje:English
Publicado: American Society for Clinical Investigation 2022
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9012293/
https://www.ncbi.nlm.nih.gov/pubmed/35230976
http://dx.doi.org/10.1172/JCI131053

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