Laminopathies: involvement of structural nuclear proteins in the pathogenesis of an increasing number of human diseases.
Just at the beginning of the millennium the neologism laminopathies has been introduced in the scientific vocabulary. An exponential increase of interest on the subject started concomitantly, so that a formerly quite neglected group of rare human diseases is now widely investigated. This review will cover the history of the identification of the molecular basis for fourteen (since now) hereditary diseases arising from defects in genes that encode nuclear envelope and nuclear lamina-associated proteins and will also consider the hypotheses that can account for the role of structural nuclear proteins in the pathogenesis of diseases affecting a wide spectrum of tissues.
Maraldi
Nadir M
NM
ITOI-CNR, Unit of Bologna via di Barbiano 1/10 c/o IOR, 40136 Bologna, Italy. maraldi@area.bo.cnr.it
Squarzoni
Stefano
S
Sabatelli
Patrizia
P
Capanni
Cristina
C
Mattioli
Elisabetta
E
Ognibene
Andrea
A
Lattanzi
Giovanna
G
D000199:Actins / Q000378:metabolism; D000818:Animals; D002843:Chromatin / Q000235:genetics / Q000378:metabolism / Q000473:pathology; D005786:Gene Expression Regulation / Q000502:physiology; D005809:Genes, Regulator / Q000235:genetics; D030342:Genetic Diseases, Inborn / Q000235:genetics / Q000378:metabolism* / Q000503:physiopathology; D006801:Humans; D034882:Lamins / Q000235:genetics / Q000378:metabolism*; D009685:Nuclear Envelope / Q000235:genetics / Q000378:metabolism* / Q000473:pathology; D009687:Nuclear Proteins / Q000235:genetics / Q000378:metabolism*
D000199:Actins; D002843:Chromatin; D034882:Lamins; D009687:Nuclear Proteins