Associated Papers
Engineering of a high-fidelity Cas12a nuclease variant capable of allele-specific editing.
Wei J et al.
Plos Biology, 2024
38865309 (PubMed )
Supplement: pbio.3002680.s016.xlsx › ClinVar
Clinical and Genetic Characteristics of Mitochondrial Encephalopathy Due to FOXRED1 Mutations: Two Chinese Case Reports and a Review of the Literature.
Hu C et al.
Frontiers in Neurology, 2021
Congenital lactic acidosis, cerebral cysts and pulmonary hypertension in an infant with FOXRED1 related complex 1 deficiency.
Apatean D et al.
Molecular Genetics and Metabolism Reports, 2019
Congenital lactic acidosis, cerebral cysts and pulmonary hypertension in an infant with FOXRED1 related complex I deficiency.
Apatean D et al.
Molecular Genetics and Metabolism Reports, 2019
Complex I impairment in mitochondrial diseases and cancer: parallel roads leading to different outcomes.
Iommarini L et al.
The International Journal of Biochemistry & Cell Biology, 2013
Mutation screening of 75 candidate genes in 152 complex I deficiency cases identifies pathogenic variants in 16 genes including NDUFB9.
Haack TB et al.
Journal of Medical Genetics, 2012
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