Ontology highlight
ABSTRACT:
SUBMITTER: Schmidts M
PROVIDER: S-EPMC3824113 | biostudies-literature | 2013 Nov
REPOSITORIES: biostudies-literature
Schmidts Miriam M Vodopiutz Julia J Christou-Savina Sonia S Cortés Claudio R CR McInerney-Leo Aideen M AM Emes Richard D RD Arts Heleen H HH Tüysüz Beyhan B D'Silva Jason J Leo Paul J PJ Giles Tom C TC Oud Machteld M MM Harris Jessica A JA Koopmans Marije M Marshall Mhairi M Elçioglu Nursel N Kuechler Alma A Bockenhauer Detlef D Moore Anthony T AT Wilson Louise C LC Janecke Andreas R AR Hurles Matthew E ME Emmet Warren W Gardiner Brooke B Streubel Berthold B Dopita Belinda B Zankl Andreas A Kayserili Hülya H Scambler Peter J PJ Brown Matthew A MA Beales Philip L PL Wicking Carol C Duncan Emma L EL Mitchison Hannah M HM
American journal of human genetics 20131031 5
Bidirectional (anterograde and retrograde) motor-based intraflagellar transport (IFT) governs cargo transport and delivery processes that are essential for primary cilia growth and maintenance and for hedgehog signaling functions. The IFT dynein-2 motor complex that regulates ciliary retrograde protein transport contains a heavy chain dynein ATPase/motor subunit, DYNC2H1, along with other less well functionally defined subunits. Deficiency of IFT proteins, including DYNC2H1, underlies a spectrum ...[more]