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Team Smith Lemli Opitz syndrome and in clinical, biochemical and molecular

Team Smith Lemli Opitz and ( SLOS , MIM 27400 ) is an autosomal recessive disorder . It is characterized by mental retardation , altered facial appearance and numerous irregularities in the construction of many organs . The cause of many defects is a deficit activity of 7- dehydrocholesterol reductase ( DHCR7 ) , the enzyme that catalyzes the last step in the biosynthesis of cholesterol. Recently it was discovered that cholesterol plays a key role in embryonic development of the organism by regulating the activities of signal proteins ( sonic hedgehog , SHH ) .

The Editorial Board
Andrzej Łukaszyk - przewodniczący, Zofia Bielańska-Osuchowska, Szczepan Biliński, Mieczysław Chorąży, Aleksander Koj, Włodzimierz Korochoda, Leszek Kuźnicki, Aleksandra Stojałowska, Lech Wojtczak

Editorial address:
Katedra i Zakład Histologii i Embriologii Uniwersytetu Medycznego w Poznaniu, ul. Święcickiego 6, 60-781 Poznań, tel. +48 61 8546453, fax. +48 61 8546440, email: mnowicki@ump.edu.pl

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