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

Journal article

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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Authors: Jeyabalan, J; Nesbit, M; Galvanovskis, J; Callaghan, R; Rorsman, P

• Publication status: Published
• Peer review status: Peer reviewed
• Publisher: Public Library of Science
• Journal: PloS one
• Volume: 5
• Issue: 5
• Article number: e10646
• Publication date: 2010-01-01
• DOI: 10.1371/journal.pone.0010646
• EISSN: 1932-6203
• ISSN: 1932-6203
• Language: English
• Keywords: Saccharomyces cerevisiae; Humans; Models, Molecular; Mutation; Phosphopyruvate Hydratase; Subcellular Fractions; Paired Box Transcription Factors; Tumor Markers, Biological; Transcription Factors; Cell Line; Protein Multimerization; Steroidogenic Factor 1; Models, Biological; Protein Transport; DNA-Binding Proteins; Tumor Suppressor Proteins; Protein Binding; Mutant Proteins; Two-Hybrid System Techniques; Membrane Transport Proteins