Dataset Information

New alterations of the platelet proteome in type I Glanzmann thrombasthenia

ABSTRACT: The project contains raw and result files of a proteomics analysis of two patients with type 1 Glanzmann thrombasthenia (Patient1 and 2) caused by homozygous ITGA2b delG mutations and from family (heterozygous: Father1, Mother1, Sister1, healthy: Sister2) and unrelated controls. A label-free analysis has been conducted in duplicates using Progenesis (NonLinear Dynamics) demonstrating that less than 5% of glycoprotein IIb and 5-7% fibrinogen is expressed compared to healthy controls. Heterozygous familiy members from one of the controls expressed 50-60% of GPIIb sufficient for normal GPIIb/IIIa-dependant platelet function. In a subsequent targeted LC-MS/MS analysis we quantified 14 protein identified as potentially regulated in preliminary iTRAQ experiments. We observed diminished expession of factor XIIIB chain (P05160), plasminogen (P00747) and carboxypeptidase 2B (Q96IY4) in thrombasthenic platelets as well as a 2.5-fold increased expression of FcgRIIA (P12318/P31995) and laminin alpha4 (Q16363).

INSTRUMENT(S): LTQ Orbitrap Velos, Q Exactive

ORGANISM(S): Homo Sapiens (human)

TISSUE(S): Blood Platelet, Blood Cell

DISEASE(S): Glanzmann's Thrombasthenia

SUBMITTER: Stefan Loroch

LAB HEAD: Albert Sickmann

PROVIDER: PXD003912 | Pride | 2019-01-14

REPOSITORIES: Pride

ACCESS DATA

Publications

Alterations of the platelet proteome in type I Glanzmann thrombasthenia caused by different homozygous delG frameshift mutations in ITGA2B.

Loroch Stefan S Trabold Katharina K Gambaryan Stepan S Reiß Cora C Schwierczek Kathrin K Fleming Ingrid I Sickmann Albert A Behnisch Wolfgang W Zieger Barbara B Zahedi René P RP Walter Ulrich U Jurk Kerstin K

Thrombosis and haemostasis 20170112 3

Glanzmann thrombasthenia (GT) is one of the best characterised inherited platelet function disorders but global platelet proteome has not been determined in these patients. We investigated the proteome and function of platelets from two patients with type I GT, caused by different homozygous ITGA2b mutations, from family members and unrelated controls. The global proteome of highly purified washed platelets was quantified by liquid chromatography-mass spectrometry (LC-MS) and targeted MS-methods ...[more]

PMID: 28078347

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Dataset Information

New alterations of the platelet proteome in type I Glanzmann thrombasthenia

Publications

Alterations of the platelet proteome in type I Glanzmann thrombasthenia caused by different homozygous delG frameshift mutations in ITGA2B.

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