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

Jeyabalan, Jeshmi; Nesbit, M. Andrew; Galvanovskis, Juris; Callaghan, Richard; Rorsman, Patrik; Thakker, Rajesh V.


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...[Show more]

CollectionsANU Research Publications
Date published: 2010-05-14
Type: Journal article
Source: PLoS ONE
DOI: 10.1371/journal.pone.0010646


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