Insights into the molecular pathogenesis of cardiospondylocarpofacial syndrome: MAP3K7 c.737-7A > G variant alters the TGFß-mediated &#945;-SMA cytoskeleton assembly and autophagy.

Micale, Lucia; Morlino, Silvia; Biagini, Tommaso; Carbone, Annalucia; Fusco, Carmela; Ritelli, Marco; Giambra, Vincenzo; Zoppi, Nicoletta; Nardella, Grazia; Notarangelo, Angelantonio; Schirizzi, Annalisa; Mazzoccoli, Gianluigi; Grammatico, Paola; Wade, Emma M; Mazza, Tommaso; Colombi, Marina; Castori, Marco

Insights into the molecular pathogenesis of cardiospondylocarpofacial syndrome: MAP3K7 c.737-7A > G variant alters the TGFß-mediated α-SMA cytoskeleton assembly and autophagy.

Micale, Lucia; Morlino, Silvia; Biagini, Tommaso; Carbone, Annalucia; Fusco, Carmela; Ritelli, Marco; Giambra, Vincenzo; Zoppi, Nicoletta; Nardella, Grazia; Notarangelo, Angelantonio; Schirizzi, Annalisa; Mazzoccoli, Gianluigi; Grammatico, Paola; Wade, Emma M; Mazza, Tommaso; Colombi, Marina; Castori, Marco.

Afiliación

Micale L; Division of Medical Genetics, Fondazione IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Foggia, Italy. Electronic address: l.micale@operapadrepio.it.
Morlino S; Laboratory of Medical Genetics, Department of Molecular Medicine, Sapienza University, San Camillo-Forlanini Hospital, Rome, Italy.
Biagini T; Unit of Bioinformatics, Fondazione IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Foggia, Italy.
Carbone A; Division of Internal Medicine and Unit of Chronobiology, Fondazione IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Foggia, Italy.
Fusco C; Division of Medical Genetics, Fondazione IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Foggia, Italy.
Ritelli M; Division of Biology and Genetics, Department of Molecular and Translational Medicine, University of Brescia, Brescia, Italy.
Giambra V; Institute for Stem Cell Biology, Regenerative Medicine and Innovative Therapies (ISBReMIT), Fondazione IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Foggia, Italy.
Zoppi N; Division of Biology and Genetics, Department of Molecular and Translational Medicine, University of Brescia, Brescia, Italy.
Nardella G; Division of Medical Genetics, Fondazione IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Foggia, Italy; Department of Experimental Medicine, Sapienza University of Rome, Rome, Italy.
Notarangelo A; Division of Medical Genetics, Fondazione IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Foggia, Italy.
Schirizzi A; Division of Medical Genetics, Fondazione IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Foggia, Italy; Dipartimento di Biologia, Università degli Studi di Bari, "Aldo Moro", Bari, Italy.
Mazzoccoli G; Division of Internal Medicine and Unit of Chronobiology, Fondazione IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Foggia, Italy.
Grammatico P; Laboratory of Medical Genetics, Department of Molecular Medicine, Sapienza University, San Camillo-Forlanini Hospital, Rome, Italy.
Wade EM; Department of Women's and Children's Health, Dunedin School of Medicine, University of Otago, Dunedin, New Zealand.
Mazza T; Unit of Bioinformatics, Fondazione IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Foggia, Italy.
Colombi M; Division of Biology and Genetics, Department of Molecular and Translational Medicine, University of Brescia, Brescia, Italy.
Castori M; Division of Medical Genetics, Fondazione IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Foggia, Italy.

Biochim Biophys Acta Mol Basis Dis ; 1866(6): 165742, 2020 06 01.

Article en En | MEDLINE | ID: mdl-32105826

Asunto(s)

Anomalías Múltiples/genética; Actinas/genética; Autofagia/genética; Pérdida Auditiva Bilateral/genética; Quinasas Quinasa Quinasa PAM/genética; Insuficiencia de la Válvula Mitral/genética; Osteosclerosis/genética; Anomalías Múltiples/fisiopatología; Proteínas Adaptadoras Transductoras de Señales/genética; Niño; Citoesqueleto/genética; Femenino; Fibroblastos/metabolismo; Pérdida Auditiva Bilateral/fisiopatología; Humanos; Mutación con Pérdida de Función/genética; Insuficiencia de la Válvula Mitral/fisiopatología; Mutación/genética; Osteosclerosis/fisiopatología; Fosforilación/genética; Polimorfismo de Nucleótido Simple/genética; Unión Proteica/genética; Transducción de Señal/genética; Factor de Crecimiento Transformador beta/genética

Palabras clave

Cardiospondylocarpofacial syndrome; Connective tissue; TAB1; TAK1; TGFß; α-SMA cytoskeleton

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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Osteosclerosis / Autofagia / Anomalías Múltiples / Actinas / Quinasas Quinasa Quinasa PAM / Pérdida Auditiva Bilateral / Insuficiencia de la Válvula Mitral Tipo de estudio: Etiology_studies / Prognostic_studies Límite: Child / Female / Humans Idioma: En Revista: Biochim Biophys Acta Mol Basis Dis Año: 2020 Tipo del documento: Article

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