Human diseases: clues to cracking the connexin code?

Citation
Dp. Kelsell et al., Human diseases: clues to cracking the connexin code?, TR CELL BIO, 11(1), 2001, pp. 2-6
Citations number
37
Language
INGLESE
art.tipo
Article
Categorie Soggetti
Cell & Developmental Biology
Journal title
TRENDS IN CELL BIOLOGY
ISSN journal
0962-8924 → ACNP
Volume
11
Issue
1
Year of publication
2001
Pages
2 - 6
Database
ISI
SICI code
0962-8924(200101)11:1<2:HDCTCT>2.0.ZU;2-A
Abstract
The vertebrate gap junctions formed by the connexin family of transmembrane proteins came to the attention of geneticists in 1993 with the identificat ion of mutations linked to a form of demyelinating neuropathy Since then, s everal other genetic disorders have been linked to mutations in specific co nnexin genes. Also, different diseases can result from different mutations in the same connexin gene. In addition, specific connexin knockout mice hav e surprising phenotypes. This is leading cell biologists to look afresh at connexins and their involvement in intercellular communication through gap junctions, a process that seems central to coordinating cell function withi n tissues. Here, we comment on how genetic studies are giving a new impetus to the cell biology of gap junctions.