Avtor/Urednik		Zupan, Anja
Naslov		Dedna eliptocitoza
Prevedeni naslov		Hereditary elliptocytosis
Tip		članek
Vir		Med Razgl
Vol. in št.		Letnik 45, št. 2
Leto izdaje		2006
Obseg		str. 155-63
Jezik		slo
Abstrakt		Hereditary elliptocytosis is a clinically, biochemically and genetically heterogeneous group of inherited disorders of red blood cells. It is characterised by the presence of elongated, oval or elliptically shaped erythrocytes on the peripheral blood smear. The elliptocytic phenotype has been shown to result from various defects of proteins that constitute membrane skeletal network. This network and molecules that bind it to the lipid bilayer are responsible for the shape of red blood cell and the stability and deformability of its membrane. This article will concentrate on findings about molecular anatomy of erythrocyte membrane and membrane skeleton, mutations of genes for structural proteins of elliptocytic membrane skeleton and functional changes of these proteins and interactions among them, their influences on mechanical properties of the membrane and consequentially on the cellular shape.
Izvleček		Dedna eliptocitoza je klinično, biokemično in genetsko raznolika skupina bolezni rdečih krvnih celic. Označuje jo prisotnost podolgovatih ali eliptičnih eritrocitov v periferni krvni sliki. Eliptični fenotip je posledica različnih napak proteinov, ki tvorijo membranski skelet. Le-ta in pa molekule, ki ga vežejo na lipidni dvosloj, so odgovorni za obliko eritrocita in ustrezno stabilnost in deformabilnost njegove membrane. V članku bom poskušala povzeti dognanja na področju molekularne anatomije membrane in membranskega skeleta rdečih krvnih celic, mutacij genov strukturnih proteinov membranskega skeleta eliptocitov ter posledične spremembe teh proteinov in povezav med njimi, vplivov na mehanske lastnosti membrane in s tem na obliko celice.
Deskriptorji		ELLIPTOCYTOSIS, HEREDITARY ERYTHROCYTE MEMBRANE ERYTHROCYTE DEFORMABILITY MEMBRANE PROTEINS SPECTRIN