Associated Papers
Structural Insights into Mechanisms Underlying Mitochondrial and Bacterial Cytochrome c Synthases.
Childs PL et al.
Biomolecules, 2024
Linear Skin Defects with Multiple Congenital Anomalies (LSDMCA): An Unconventional Mitochondrial Disorder.
Indrieri A et al.
Genes, 2021
Conserved residues of the human mitochondrial holocytochrome c synthase mediate interactions with heme.
Babbitt SE et al.
Biochemistry, 2014
Clinical spectrum of females with HCCS mutation: from no clinical signs to a neonatal lethal form of the microphthalmia with linear skin defects (MLS) syndrome.
van Rahden VA et al.
Orphanet Journal of Rare Diseases, 2014
The impairment of HCCS leads to MLS syndrome by activating a non-canonical cell death pathway in the brain and eyes.
Indrieri A et al.
Embo Molecular Medicine, 2013
Eye development genes and known syndromes.
Slavotinek AM
Molecular Genetics and Metabolism, 2011
HCCS loss-of-function missense mutation in a female with bilateral microphthalmia and sclerocornea: a novel gene for severe ocular malformations?
Wimplinger I et al.
Molecular Vision, 2007
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