Title : A three-base deletion removing a leucine residue in a leucine-rich repeat of platelet glycoprotein Ib alpha associated with a variant of Bernard-Soulier syndrome (Nancy I).

Pub. Date : 1995 Feb

PMID : 7873390






7 Functional Relationships(s)
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1 We report a deletion of leucine 179, located in a highly conserved position of the seventh leucine-rich repeat of GPIb alpha, found in a variant form of Bernard-Soulier disease (Bernard-Soulier Nancy I). Leucine glycoprotein Ib platelet subunit alpha Homo sapiens
2 We report a deletion of leucine 179, located in a highly conserved position of the seventh leucine-rich repeat of GPIb alpha, found in a variant form of Bernard-Soulier disease (Bernard-Soulier Nancy I). Leucine glycoprotein Ib platelet subunit alpha Homo sapiens
3 Sequencing showed a three-base deletion which results in the absence of a leucine residue, highly conserved across the seven leucine-rich repeats of GPIb alpha and also within the other members of the leucine-rich glycoprotein family. Leucine glycoprotein Ib platelet subunit alpha Homo sapiens
4 Sequencing showed a three-base deletion which results in the absence of a leucine residue, highly conserved across the seven leucine-rich repeats of GPIb alpha and also within the other members of the leucine-rich glycoprotein family. Leucine glycoprotein Ib platelet subunit alpha Homo sapiens
5 Sequencing showed a three-base deletion which results in the absence of a leucine residue, highly conserved across the seven leucine-rich repeats of GPIb alpha and also within the other members of the leucine-rich glycoprotein family. Leucine glycoprotein Ib platelet subunit alpha Homo sapiens
6 The absence of the leucine 179 in a patient"s GPIb alpha is believed to cause a conformational change in the protein which would account for the lack of binding of most of the MoAbs tested and would be responsible for the absence of von Willebrand factor binding. Leucine glycoprotein Ib platelet subunit alpha Homo sapiens
7 These results point to the leucine-rich region of GPIb alpha as being required for the correct exposure of the von Willebrand binding site as well as for the correct assembly and stability of the GPIb/IX/V complex on the platelet surface. Leucine glycoprotein Ib platelet subunit alpha Homo sapiens