Prelamin A processing and functional effects in restrictive dermopathy. (Articolo in rivista)

Type

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

Label

• Prelamin A processing and functional effects in restrictive dermopathy. (Articolo in rivista) (literal)

Anno

• 2010-01-01T00:00:00+01:00 (literal)

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

• 10.4161/cc.9.23.14210 (literal)

Alternative label

• Columbaro M; Mattioli E; Schena E; Capanni C; Cenni V; Levy N; Navarro CL; Del Coco R; Squarzoni S; Camozzi D; Hutchison CJ; Wehnert M; Lattanzi G. (2010)
  Prelamin A processing and functional effects in restrictive dermopathy.
  in Cell cycle (Georget. Tex.)
  (literal)

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

• Columbaro M; Mattioli E; Schena E; Capanni C; Cenni V; Levy N; Navarro CL; Del Coco R; Squarzoni S; Camozzi D; Hutchison CJ; Wehnert M; Lattanzi G. (literal)

Pagina inizio

• 4766 (literal)

Pagina fine

• 4768 (literal)

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

• 9 (literal)

Rivista

• Cell cycle (Rivista)

Note

• PubMe (literal)

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

• Lab of Musculoskeletal Cell Biology; IOR, Bologna; Bologna, Italy; IGM-CNR Unit of Bologna c/o 10R; Bologna, Italy; INSERM U910; Faculté de Médecine la Timone; Marseille, France; School of Biological and Biomedical Sciences; Intergrative Cell Biology Laboratories; Durham University; Stockton-on-Tees UK; Inst. of Human Genetics; University of Greifswald; Greifswald, Germany (literal)

Titolo

• Prelamin A processing and functional effects in restrictive dermopathy. (literal)

Abstract

• Laminopathies are an heterogeneous group of human disorders caused by mutations in the lamin A/C gene or in genes coding for lamin-binding proteins. They include several tissue-specific disorders (e.g., Emery-Dreifuss muscular distrophy and dilated cardiomyopathy with conduction defects) or systemic forms including the most severe phenotypes: Hutchinson-Gilford progeria syndrome (HGPS) and restrictive dermopathy (RD).1 RD is a lethal neonatal laminopathy causing bone resorption of clavicles, tight translucent skin, anomalous facial features and arthrogryposis.2 RD is a secondary laminopathy, since it is associated with mutations of a lamin-binding protein, the endoprotease ZMPSTE24 involved in lamin A precursor (prelamin A) post-translational processing.3 A common mutation in the ZMPSTE24 gene (c.1085_1086InsT) has been characterized in most RD patients leading to impaired protein expression and prelamin A accumulation in cells. (literal)

Prodotto di

• Institute of molecular genetics (IGM) (Istituto)
• Patogenesi delle malattie degenerative muscolo-scheletriche (ME.P05.014.001) (Modulo)

Autore CNR

• ROSALBA DEL COCO (Persona)
• GIOVANNA LATTANZI (Persona)
• CRISTINA CAPANNI (Persona)
• VITTORIA CENNI (Unità di personale interno)
• STEFANO SQUARZONI (Persona)
• ELISABETTA MATTIOLI (Unità di personale interno)

Incoming links:

Prodotto

• Institute of molecular genetics (IGM) (Istituto)
• Patogenesi delle malattie degenerative muscolo-scheletriche (ME.P05.014.001) (Modulo)

Autore CNR di

• ROSALBA DEL COCO (Persona)
• GIOVANNA LATTANZI (Persona)
• STEFANO SQUARZONI (Persona)
• CRISTINA CAPANNI (Persona)
• VITTORIA CENNI (Unità di personale interno)
• ELISABETTA MATTIOLI (Unità di personale interno)

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

• Cell cycle (Rivista)