Associated Papers
Novel Intragenic and Genomic Variants Highlight the Phenotypic Variability in HCCS-Related Disease.
Reis LM et al.
Genes, 2024
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
Mutations of the mitochondrial holocytochrome c-type synthase in X-linked dominant microphthalmia with linear skin defects syndrome.
Wimplinger I et al.
American Journal of Human Genetics, 2006
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