Ubiquitin-proteasome system dysregulation in FAM111B-related poikiloderma and phenotypic spectrum expansion: new case reports and long-term follow-up

Association Française contre les Myopathies (AFM - 20760), Fondation Génavie (657298), Fondation Thellie, I-SITE NExT Junior Talent, Biogenouest, Infrastructures en Biologie Santé et Agronomie (IBiSA) and Conseil Régional de Bretagne.

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Publication Details

Journal
EBioMedicine
Published
2025-08-20
DOI
https://doi.org/10.1016/j.ebiom.2025.105864
Primary Topic
Ubiquitin and proteasome pathways
Type
article
Field-Weighted Citation Impact
0.00

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article

Ubiquitin-proteasome system dysregulation in FAM111B-related poikiloderma and phenotypic spectrum expansion: new case reports and long-term follow-up

Frédéric Ebstein, Erica E. Davis, Aurélie Guého, Emmanuelle Com et al.
EBioMedicine
Ubiquitin and proteasome pathways
article

Ubiquitin-proteasome system dysregulation in FAM111B-related poikiloderma and phenotypic spectrum expansion: new case reports and long-term follow-up

Frédéric Ebstein, Erica E. Davis, Aurélie Guého, Emmanuelle Com, Anne Bigot, Virginie Vignard, Thomas Besnard, Martin Broly, Sébastien Küry, Joseph Porrmann, S. Barbarot, Laëtitia Florenceau, Mike Maillasson, Smail Hadj-Rabia, Wallid Deb, Sandra Mercier, Stéphane Bezieau, Randal Richardson, Léa Ruffier, Alice Goldenberg, Betty Gardie, Karen Sobriel, Grégoire Ménard
article en

Abstract

Association Française contre les Myopathies (AFM - 20760), Fondation Génavie (657298), Fondation Thellie, I-SITE NExT Junior Talent, Biogenouest, Infrastructures en Biologie Santé et Agronomie (IBiSA) and Conseil Régional de Bretagne.

EBioMedicineVol. 119
Hôpital Necker-Enfants Malades (FR), Centre National de la Recherche Scientifique (FR), Inserm (FR), École Pratique des Hautes Études (FR), Duke University (US), Centre Hospitalier Universitaire de Nantes (FR), Sorbonne Université (FR), Institut Necker Enfants Malades (FR), Centre de Recherche en Cancérologie et Immunologie Intégrée Nantes Angers (FR), Assistance Publique – Hôpitaux de Paris (FR), Gillette Children's Specialty Healthcare (US), Institut de Recherche en Santé, Environnement et Travail (FR), Institut de Myologie (FR), Duke Medical Center (US), Institut du Thorax (FR), Duke University Hospital (US), Centre Hospitalier Universitaire de Rouen (FR), Structure Fédérative de Recherche en Biologie et Santé de Rennes (FR), Klinik und Poliklinik für Psychotherapie und Psychosomatik (DE), Institut des Maladies Génétiques Imagine (FR), Centre de Recherche en Myologie, Université de Rennes (FR), Université de Rouen Normandie (FR), Nantes Université (FR)
Infrastructures en Biologie Santé et Agronomie, Conseil Régional de Bretagne
Zero hunger
Openalex Percentile: Top 81%
Ubiquitin and proteasome pathways
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