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Article

Molecular pathophysiology of human MICU1 deficiency

15 Jan 2021

Abstract excerpt

Abstract Aims 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 to this neuropaediatric phenotype has not been fully elucidated. Here we aimed to obtain novel insights into MICU1 pathophysiology....

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PMID: 33428302
DOI: 10.1111/nan.12694

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