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SEDLIN forms homodimers: Characterisation of SEDLIN mutations and their interactions with transcription factors MBP1, PITX1 and SF1

Abstract:

Background: SEDLIN, a 140 amino acid subunit of the Transport Protein Particle (TRAPP) complex, is ubiquitously expressed and interacts with the transcription factors c-myc promoter-binding protein 1 (MBP1), pituitary homeobox 1 (PITX1) and steroidogenic factor 1 (SF1). SEDLIN mutations cause X-linked spondyloepiphyseal dysplasia tarda (SEDT). Methodology/Principal Findings: We investigated the effects of 4 missense (Asp47Tyr, Ser73Leu, Phe83Ser and Val130Asp) and the most C-terminal nonsense...

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Institution:
University of Oxford
Department:
Oxford, MSD, RDM, OCDEM
Role:
Author
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Journal:
PLoS ONE
Volume:
5
Issue:
5
Publication date:
2010-01-01
DOI:
EISSN:
1932-6203
URN:
uuid:f550ee13-334a-4801-9f43-6e3bf347ff53
Source identifiers:
93135
Local pid:
pubs:93135
Language:
English

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