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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,… Click to show full 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 to this neuropaediatric phenotype has not been fully elucidated. Here we aimed to obtain novel insights into MICU1 pathophysiology.
Keywords:
molecular pathophysiology;
micu1 deficiency;
pathophysiology;
human micu1;
pathophysiology human
Journal Title: Neuropathology and Applied Neurobiology
Year Published: 2021
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Journal Title: Neuropathology and Applied Neurobiology
Year Published: 2021
Link to full text (if available)
Share on Social Media: Sign Up to like & get
recommendations!