Ontology highlight
ABSTRACT:
SUBMITTER: Haataja TJK
PROVIDER: S-EPMC6984350 | biostudies-literature | 2019 Jan
REPOSITORIES: biostudies-literature
Haataja Tatu J K TJK Bernardi Rafael C RC Lecointe Simon S Capoulade Romain R Merot Jean J Pentikäinen Ulla U
Structure (London, England : 1993) 20181018 1
Filamin A (FLNa), expressed in endocardial endothelia during fetal valve morphogenesis, is key in cardiac development. Missense mutations in FLNa cause non-syndromic mitral valve dysplasia (FLNA-MVD). Here, we aimed to reveal the currently unknown underlying molecular mechanism behind FLNA-MVD caused by the FLNa P637Q mutation. The solved crystal structure of the FLNa3-5 P637Q revealed that this mutation causes only minor structural changes close to mutation site. These changes were observed to ...[more]