Molecular pathophysiology of human MICU1 deficiency
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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