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

Laetitia Dard; Christophe Hubert; Pauline Esteves; Wendy Blanchard; Ghina Bou About; Lyla Baldasseroni; Elodie Dumon; Chloe Angelini; Mégane Delourme; Veronique Guyonnet-Duperat; Stephane Claverol; Laura Fontenille; Karima Kissa; Pierre-Emmanuel Seguela; Jean-Benoit Thambo; Nicolas Levy; Yann Hérault; Nadege Bellance; Nivea Dias Amoedo; Frédérique Magdinier; Tania Sorg; Didier Lacombe; Rodrigue Rossignol

doi:10.1172/JCI131053

Journal Articles JOURNAL OF CLINICAL INVESTIGATION Year : 2022

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

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2
3
4

Laetitia Dard

Function : Author

Christophe Hubert

Function : Author
PersonId : 836388
IdHAL : christophe-hubert

Pauline Esteves

Function : Author

Wendy Blanchard

Function : Author

Ghina Bou About

Function : Author

Institut Clinique de la Souris

Lyla Baldasseroni

Function : Author

Marseille medical genetics - Centre de génétique médicale de Marseille

Elodie Dumon

Function : Author

Chloe Angelini

Function : Author

Mégane Delourme

Function : Author

Marseille medical genetics - Centre de génétique médicale de Marseille

Veronique Guyonnet-Duperat

Function : Author

Stephane Claverol

Function : Author

Laura Fontenille

Function : Author

Karima Kissa

Function : Author

Pierre-Emmanuel Seguela

Function : Author

Jean-Benoit Thambo

Function : Author

Nicolas Levy

Function : Author
PersonId : 17086
IdHAL : nicolas-levy
ORCID : 0000-0001-5171-6365
IdRef : 070193355

Marseille medical genetics - Centre de génétique médicale de Marseille

Département de génétique médicale [Hôpital de la Timone - APHM]

Yann Hérault

Function : Author
PersonId : 741744
IdHAL : yann-herault
ORCID : 0000-0001-7049-6900
IdRef : 077172639

Institut Clinique de la Souris

Institut de Génétique et de Biologie Moléculaire et Cellulaire

CV

Nadege Bellance

Function : Author

Nivea Dias Amoedo

Function : Author

Frédérique Magdinier

Function : Author
PersonId : 16264
IdHAL : frederique-magdinier
ORCID : 0000-0002-0159-9559
IdRef : 157603660

Marseille medical genetics - Centre de génétique médicale de Marseille

CV

Tania Sorg

Function : Author
PersonId : 760132
ORCID : 0000-0001-6974-4735

Institut Clinique de la Souris

Didier Lacombe

Function : Author

Rodrigue Rossignol

Function : Author

Domains

Genetics

Fichier principal

HRAS..Costello syndrome models.pdf (13.76 Mo)

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https://amu.hal.science/hal-03780356

Submitted on : Friday, January 27, 2023-5:15:30 PM

Last modification on : Thursday, September 5, 2024-3:14:52 AM

Long-term archiving on : Friday, April 28, 2023-7:47:03 PM

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hal-03780356 , version 1 (27-01-2023)

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HAL Id : hal-03780356 , version 1
DOI : 10.1172/JCI131053

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Laetitia Dard, Christophe Hubert, Pauline Esteves, Wendy Blanchard, Ghina Bou About, et al.. HRAS germline mutations impair LKB1/AMPK signaling and mitochondrial homeostasis in Costello syndrome models. JOURNAL OF CLINICAL INVESTIGATION, 2022, 132 (8), ⟨10.1172/JCI131053⟩. ⟨hal-03780356⟩

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

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