Molecular pathophysiology of human MICU1 deficiency
Sign Up to like & getrecommendations! Published in 2021 at "Neuropathology and Applied Neurobiology"
DOI: 10.1111/nan.12694
Abstract: MICU1 encodes the gatekeeper of the mitochondrial Ca2+ uniporter, MICU1 and biallelic loss‐of‐function mutations cause a complex, neuromuscular disorder in children. Although the role of the protein is well understood, the precise molecular pathophysiology leading… read more here.
Keywords: molecular pathophysiology; micu1 deficiency; pathophysiology; human micu1 ... See more keywords
From the pathophysiology of the human lung alveolus to epigenetic editing: Congress 2018 highlights from ERS Assembly 3 “Basic and Translational Science.”
Sign Up to like & getrecommendations! Published in 2019 at "ERJ Open Research"
DOI: 10.1183/23120541.00194-2018
Abstract: The European Respiratory Society (ERS) International Congress is the largest respiratory congress and brings together leading experts in all fields of respiratory medicine and research. ERS Assembly 3 shapes the basic and translational science aspects… read more here.
Keywords: translational science; ers assembly; congress; basic translational ... See more keywords