TFIIH-dependent MMP-1 overexpression in trichothiodystrophy leads to extracellular matrix alterations in patient skin (Articolo in rivista)

Type

• Articolo in rivista (Classe)
• Prodotto della ricerca (Classe)

Label

• TFIIH-dependent MMP-1 overexpression in trichothiodystrophy leads to extracellular matrix alterations in patient skin (Articolo in rivista) (literal)

Anno

• 2015-01-01T00:00:00+01:00 (literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#doi

• 10.1073/pnas.1416181112 (literal)

Alternative label

• Arseni L, Lanzafame M, Compe E, Fortugno P, Afonso-Barroso A, Peverali FA, Lehmann AR, Zambruno G, Egly JM, Stefanini M and Orioli D. (2015)
  TFIIH-dependent MMP-1 overexpression in trichothiodystrophy leads to extracellular matrix alterations in patient skin
  in Proceedings of the National Academy of Sciences of the United States of America
  (literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#autori

• Arseni L, Lanzafame M, Compe E, Fortugno P, Afonso-Barroso A, Peverali FA, Lehmann AR, Zambruno G, Egly JM, Stefanini M and Orioli D. (literal)

Pagina inizio

• 1499 (literal)

Pagina fine

• 1504 (literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#url

• http://www.pnas.org/content/112/5/1499.long#aff-3 (literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#numeroVolume

• 112 (literal)

Rivista

• Proceedings of the National Academy of Sciences of the United States of America (Rivista)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#pagineTotali

• 6 (literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#numeroFascicolo

• 5 (literal)

Note

• PubMe (literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#affiliazioni

• Arseni L, Lanzafame M, Afonso-Barroso A, Peverali FA, Stefanini M and Orioli D: IGM-CNR, Pavia Italy Compe E and Egly JM: IGBMC-CNRS, Strasbourg France Lehmann AR: Genome Damage and Stability Centre, University of Sussex, Brighton United Kingdom Fortugno P: Ospedale del Bambino Gesù, Roma Italy Zambruno G: IDI, Roma Italy (literal)

Titolo

• TFIIH-dependent MMP-1 overexpression in trichothiodystrophy leads to extracellular matrix alterations in patient skin (literal)

Abstract

• Mutations in the XPD subunit of the DNA repair/transcription factor TFIIH result in distinct clinical entities, including the cancer-prone xeroderma pigmentosum (XP) and the multisystem disorder trichothiodystrophy (TTD), which share only cutaneous photosensitivity. Gene-expression profiles of primary dermal fibroblasts revealed overexpression of matrix metalloproteinase 1 (MMP-1), the gene encoding the metalloproteinase that degrades the interstitial collagens of the extracellular matrix (ECM), in TTD patients mutated in XPD compared with their healthy parents. The defect is observed in TTD and not in XP and is specific for fibroblasts, which are the main producers of dermal ECM. MMP-1 transcriptional up-regulation in TTD is caused by an erroneous signaling mediated by retinoic acid receptors on the MMP-1 promoter and leads to hypersecretion of active MMP-1 enzyme and degradation of collagen type I in the ECM of cell/tissue systems and TTD patient skin. In agreement with the well-known role of ECM in eliciting signaling events controlling cell behavior and tissue homeostasis, ECM alterations in TTD were shown to impact on the migration and wound-healing properties of patient dermal fibroblasts. The presence of a specific inhibitor of MMP activity was sufficient to restore normal cell migration, thus providing a potential approach for therapeutic strategies. This study highlights the relevance of ECM anomalies in TTD pathogenesis and in the phenotypic differences between TTD and XP. (literal)

Prodotto di

• Institute of molecular genetics (IGM) (Istituto)
• Malattie genetiche dovute a difetti nella riparazione del DNA che predispongono ai tumori. Analisi genetica funzionale dei fattori importanti per l'integrità del genoma. (ME.P05.005.001) (Modulo)
• Cromosomi artificiali per terapia genica. Studi sulla replicazione del DNA in cellule umane ; controllo del ciclo cellulare e della proliferazione. (ME.P05.006.001) (Modulo)

Autore CNR

• MANUEL ANTONIO AFONSO PER BARROSO (Persona)
• MANUELA LANZAFAME (Unità di personale esterno)
• ANTONIO FIORENZO PEVERALI (Persona)
• DONATA ORIOLI (Persona)

Insieme di parole chiave

• Keywords of "TFIIH-dependent MMP-1 overexpression in trichothiodystrophy leads to extracellular matrix alterations in patient skin" (Insieme di parole chiave)

Incoming links:

Prodotto

• Institute of molecular genetics (IGM) (Istituto)
• Cromosomi artificiali per terapia genica. Studi sulla replicazione del DNA in cellule umane ; controllo del ciclo cellulare e della proliferazione. (ME.P05.006.001) (Modulo)
• Malattie genetiche dovute a difetti nella riparazione del DNA che predispongono ai tumori. Analisi genetica funzionale dei fattori importanti per l'integrità del genoma. (ME.P05.005.001) (Modulo)

Autore CNR di

• ANTONIO FIORENZO PEVERALI (Persona)
• http://www.cnr.it/ontology/cnr/individuo/unitaDiPersonaleEsterno/ID22732
• MANUELA LANZAFAME (Unità di personale esterno)
• MANUEL ANTONIO AFONSO PER BARROSO (Persona)
• DONATA ORIOLI (Persona)
• http://www.cnr.it/ontology/cnr/individuo/unitaDiPersonaleEsterno/ID24128

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#rivistaDi

• Proceedings of the National Academy of Sciences of the United States of America (Rivista)

Insieme di parole chiave di

• Keywords of "TFIIH-dependent MMP-1 overexpression in trichothiodystrophy leads to extracellular matrix alterations in patient skin" (Insieme di parole chiave)