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Journal article

The BEACH-domain containing protein, Nbeal2, interacts with Dock7, Sec16a and Vac14

Abstract:

Mutations in NBEAL2, the gene encoding the scaffolding protein Nbeal2 are causal of Gray Platelet Syndrome (GPS), a rare recessive bleeding disorder characterized by platelets lacking α-granules and progressive marrow fibrosis. We present here the interactome of Nbeal2 with additional validation by reverse immunoprecipitation of Dock7, Sec16a and Vac14 as interactors of Nbeal2. We show that GPS-causing mutations in its BEACH domain have profound and possible effects on the interaction with Do...

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Publication status:
Published
Peer review status:
Peer reviewed
Version:
Accepted Manuscript

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Publisher copy:
10.1182/blood-2017-08-800359

Authors


Jasztal, M More by this author
More by this author
ORCID:
0000-0002-3477-9695
Aguera de Haro, S More by this author
Collins, J More by this author
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Publisher:
American Society of Hematology Publisher's website
Journal:
Blood Journal website
Volume:
131
Issue:
9
Pages:
1000-1011
Publication date:
2017-11-29
Acceptance date:
2017-11-21
DOI:
EISSN:
1528-0020
ISSN:
0006-4971
Pubs id:
pubs:810916
URN:
uri:e7a8d266-3819-447a-a345-e677f5a5bc0d
UUID:
uuid:e7a8d266-3819-447a-a345-e677f5a5bc0d
Local pid:
pubs:810916
Language:
English

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