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001-es BibID:	BIBFORM069271
Első szerző:	Péterfy Miklós
Cím:	Cloning and characterization of cDNAs and the gene encoding the mouse platelet-activating factor acetylhydrolase Ib alpha subunit/lissencephaly-1 protein / Miklós Péterfy, Tibor Gyuris, David Grosshans, Christina C. Cuaresma, László Takács
Dátum:	1998
ISSN:	0888-7543
Megjegyzések:	Platelet-activating factor acetylhydrolases (PAF-AHs) play an important role in the metabolism of PAF, a potent phospholipid mediator affecting various physiological processes. The heterotrimeric form of intracellular PAF-AH consists of two catalytic subunits (PAF-AH Ib? and PAF-AH Ib?) and a potential regulatory subunit (PAF-AH Ib?). Hemizygous deletion of the gene encoding the ? subunit has been implicated in two related neurological disorders: isolated lissencephaly sequence and Miller?Dieker syndrome. Here we report the isolation and characterization of mousePafaha/Lis1cDNAs and the correspondingPafaha/Lis1gene. We have cloned five cDNAs representing alternatively polyadenylated messages. Northern blot analysis revealed that the variousPafaha/Lis1mRNAs are differentially expressed in mouse tissues. ThePafaha/Lis1gene spans a genomic region of more than 50 kb and consists of 12 exons, the first 2 of which are embedded in CpG islands. We have identified two sites of alternative splicing ofPafaha/Lis1: one affecting the length of the 5· untranslated region, the other potentially resulting in a truncated form of the encoded protein.
Tárgyszavak:	Orvostudományok Elméleti orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban
Megjelenés:	Genomics. - 47 : 2 (1998), p. 200-206. -
További szerzők:	Gyuris Tibor Grosshans, David Cuaresma, Christina C. Takács László (1955-)
Internet cím:	Szerző által megadott URL DOI Intézményi repozitóriumban (DEA) tárolt változat
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