Molecular pathophysiology of human MICU1 deficiency.

Nicolai KohlschmidtMiriam ElbrachtArtur CzechMartin HäuslerVietxuan PhanAna TöpfKai-Ting HuangAdam BartokKatja EggermannStephanie ZippelThomas EggermannErik FreierClaudia GroßHanns LochmüllerRita HorvathGyörgy HajnóczkyJoachim WeisAndreas Roos

Published in: Neuropathology and applied neurobiology (2021)

Our findings (i) link dysregulation of mitochondrial Ca2+ uptake with muscle pathology (including perturbed lipid homeostasis and ER-Golgi morphology), (ii) support the concept of a functional interplay of ER-Golgi and mitochondria in lipid homeostasis and (iii) reveal the vulnerability of the cellular proteome as part of the MICU1-related pathophysiology.

Keyphrases

endoplasmic reticulum
endothelial cells
fatty acid
climate change
oxidative stress
skeletal muscle
induced pluripotent stem cells
pluripotent stem cells
genome wide
single cell
breast cancer cells
single molecule
gene expression
drug induced