Ontology highlight
ABSTRACT:
SUBMITTER: Donkervoort S
PROVIDER: S-EPMC7820787 | biostudies-literature | 2020 Dec
REPOSITORIES: biostudies-literature
Donkervoort Sandra S Kutzner Carl E CE Hu Ying Y Lornage Xavière X Rendu John J Stojkovic Tanya T Baets Jonathan J Neuhaus Sarah B SB Tanboon Jantima J Maroofian Reza R Bolduc Véronique V Mroczek Magdalena M Conijn Stefan S Kuntz Nancy L NL Töpf Ana A Monges Soledad S Lubieniecki Fabiana F McCarty Riley M RM Chao Katherine R KR Governali Serena S Böhm Johann J Boonyapisit Kanokwan K Malfatti Edoardo E Sangruchi Tumtip T Horkayne-Szakaly Iren I Hedberg-Oldfors Carola C Efthymiou Stephanie S Noguchi Satoru S Djeddi Sarah S Iida Aritoshi A di Rosa Gabriella G Fiorillo Chiara C Salpietro Vincenzo V Darin Niklas N Fauré Julien J Houlden Henry H Oldfors Anders A Nishino Ichizo I de Ridder Willem W Straub Volker V Pokrzywa Wojciech W Laporte Jocelyn J Foley A Reghan AR Romero Norma B NB Ottenheijm Coen C Hoppe Thorsten T Bönnemann Carsten G CG
American journal of human genetics 20201119 6
The myosin-directed chaperone UNC-45B is essential for sarcomeric organization and muscle function from Caenorhabditis elegans to humans. The pathological impact of UNC-45B in muscle disease remained elusive. We report ten individuals with bi-allelic variants in UNC45B who exhibit childhood-onset progressive muscle weakness. We identified a common UNC45B variant that acts as a complex hypomorph splice variant. Purified UNC-45B mutants showed changes in folding and solubility. In situ localizatio ...[more]