AELIP

Asociación AELIP

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Aims of the team “nuclear envelope and disease”

The physiological relevance of lamins A/C and related nuclear proteins is reflected by the growing number of human diseases linked to genes encoding lamins or their partners. Laminopathies are clinically heterogeneous disorders covering a large phenotypic spectrum characterized by tissue-specific diseases, as Familial Partial Lipodystrophy (FPLD), as well as systemic diseases or overlapping forms. Among them, we are particularly interested in premature aging syndromes linked to LMNA mutations such as Hutchinson-Gilford Progeria Syndrome (HGPS), identified by our team and F. Collins’ laboratory (USA) in 2003 and related diseases linked to LMNA, ZMPSTE24 or BANF1 mutations. The team, led by Nicolas Lévy, is divided in three subgroups. The first group (A) is focused on pathophysiological mechanisms involved in premature aging syndromes linked to LMNA or related genes’mutations, in order 1/ to better understand the mechanisms underlying premature and normal aging and 2/ to develop new therapeutic approaches for these disorders. The second group (B) explores the involvement of lamin defects into more frequent or acquired diseases. The last group (C) is interested in addressing anomalies of the nuclear envelope during spermatogenesis’ disorders, an emerging field, little explored so far.

 

As far as our clinical and molecular genetic diagnosis activities are concerned, please kindly use the Orphanet link:

http://www.orpha.net/consor/www/cgi-bin/index.php?lng=EN 

Actividades
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