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Proteasome-mediated degradation of keratins 7, 8, 17 and 18 by mutant KLHL24 in a foetal keratinocyte model: Novel insight in congenital skin defects and fragility of epidermolysis bullosa simplex with cardiomyopathy.
Logli, Elena; Marzuolo, Elisa; D'Agostino, Marco; Conti, Libenzio Adrian; Lena, Anna Maria; Diociaiuti, Andrea; Dellambra, Elena; Has, Cristina; Cianfanelli, Valentina; Zambruno, Giovanna; El Hachem, May; Magenta, Alessandra; Candi, Eleonora; Condorelli, Angelo Giuseppe.
Afiliación
  • Logli E; Genodermatosis Unit, Genetics and Rare Diseases Research Division, Bambino Gesù Children's Hospital, IRCCS, Piazza Sant'Onofrio 4, 00165, Rome, Italy.
  • Marzuolo E; Genodermatosis Unit, Genetics and Rare Diseases Research Division, Bambino Gesù Children's Hospital, IRCCS, Piazza Sant'Onofrio 4, 00165, Rome, Italy.
  • D'Agostino M; Laboratory of Experimental Immunology, IDI-IRCCS, Via Monti di Creta 104, 00167, Rome, Italy.
  • Conti LA; Confocal Microscopy Core Facility, Bambino Gesù Children's Hospital, IRCCS, Viale di San Paolo 15, 00146, Rome, Italy.
  • Lena AM; Department of Experimental Medicine, University of Rome "Tor Vergata", Via Montpellier 1, 00133, Rome, Italy.
  • Diociaiuti A; Dermatology Unit and Genodermatosis Unit, Genetics and Rare Diseases Research Division, Bambino Gesù Children's Hospital, IRCCS, Piazza Sant'Onofrio 4, 00165, Rome, Italy.
  • Dellambra E; IDI-IRCCS, Via Monti di Creta 104, 00167, Rome, Italy.
  • Has C; Department of Dermatology, Medical Faculty, Medical Center - University of Freiburg, Freiburg, Germany.
  • Cianfanelli V; Department of Pediatric Hemato-Oncology and Cell and Gene Therapy, Bambino Gesù Children's Hospital, IRCCS, Piazza Sant'Onofrio 4, 00165, Rome, Italy.
  • Zambruno G; Genodermatosis Unit, Genetics and Rare Diseases Research Division, Bambino Gesù Children's Hospital, IRCCS, Piazza Sant'Onofrio 4, 00165, Rome, Italy.
  • El Hachem M; Dermatology Unit and Genodermatosis Unit, Genetics and Rare Diseases Research Division, Bambino Gesù Children's Hospital, IRCCS, Piazza Sant'Onofrio 4, 00165, Rome, Italy.
  • Magenta A; Institute of Translational Pharmacology (IFT), National Research Council of Italy (CNR), Via Fosso del Cavaliere 100, 00133, Rome, Italy.
  • Candi E; Department of Experimental Medicine, University of Rome "Tor Vergata", Via Montpellier 1, 00133, Rome, Italy.
  • Condorelli AG; IDI-IRCCS, Via Monti di Creta 104, 00167, Rome, Italy.
Hum Mol Genet ; 31(8): 1308-1324, 2022 04 22.
Article en En | MEDLINE | ID: mdl-34740256
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Proteínas Represoras / Anomalías Cutáneas / Epidermólisis Ampollosa Simple / Cardiomiopatías Tipo de estudio: Prognostic_studies Límite: Female / Humans / Pregnancy Idioma: En Revista: Hum Mol Genet Asunto de la revista: BIOLOGIA MOLECULAR / GENETICA MEDICA Año: 2022 Tipo del documento: Article País de afiliación: Italia
Texto completo
Añadir a Mi BVS
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XML
PubMed Links
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Proteínas Represoras / Anomalías Cutáneas / Epidermólisis Ampollosa Simple / Cardiomiopatías Tipo de estudio: Prognostic_studies Límite: Female / Humans / Pregnancy Idioma: En Revista: Hum Mol Genet Asunto de la revista: BIOLOGIA MOLECULAR / GENETICA MEDICA Año: 2022 Tipo del documento: Article País de afiliación: Italia