Associated Papers
Autosomal dominant myopathy caused by a novel ISCU variant.
Rusecka JM et al.
Frontiers in Genetics, 2025
FDX2 and ISCU Gene Variations Lead to Rhabdomyolysis With Distinct Severity and Iron Regulation.
Montealegre S et al.
Neurology. Genetics, 2022
Mammalian mitochondrial iron-sulfur cluster biogenesis and transfer and related human diseases.
Zhang W et al.
Biophysics Reports, 2021
PTBP1 acts as a dominant repressor of the aberrant tissue-specific splicing of ISCU in hereditary myopathy with lactic acidosis.
Rawcliffe DFR et al.
Molecular Genetics & Genomic Medicine, 2018
A novel de novo dominant mutation in ISCU associated with mitochondrial myopathy.
Legati A et al.
Journal of Medical Genetics, 2017
The presence of multiple cellular defects associated with a novel G50E iron-sulfur cluster scaffold protein (ISCU) mutation leads to development of mitochondrial myopathy.
Saha PP et al.
The Journal of Biological Chemistry, 2014
Tissue-specific splicing of ISCU results in a skeletal muscle phenotype in myopathy with lactic acidosis, while complete loss of ISCU results in early embryonic death in mice.
Nordin A et al.
Human Genetics, 2011
Human iron-sulfur cluster assembly, cellular iron homeostasis, and disease.
Ye H et al.
Biochemistry, 2010
Clinical manifestation and a new ISCU mutation in iron-sulphur cluster deficiency myopathy.
Kollberg G et al.
Brain : a Journal of Neurology, 2009
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