Associated Papers
Challenges of genetic diagnosis of inborn errors of metabolism in a major tertiary care center in Lebanon.
Salman DO et al.
Frontiers in Genetics, 2022
Clinical Diagnosis and Treatment of Leigh Syndrome Based on SURF1: Genotype and Phenotype.
Lee IC et al.
Antioxidants (basel, Switzerland), 2021
MitoFates: improved prediction of mitochondrial targeting sequences and their cleavage sites.
Fukasawa Y et al.
Molecular & Cellular Proteomics : Mcp, 2015
25670805 (PubMed )
Supplement: supp_M114.043083_mcp.M114.043083-16.xlsx › TableS9A
SURF1 deficiency: a multi-centre natural history study.
Wedatilake Y et al.
Orphanet Journal of Rare Diseases, 2013
SURF1-associated Leigh syndrome: a case series and novel mutations.
Lee IC et al.
Human Mutation, 2012
Mimicking a SURF1 allele reveals uncoupling of cytochrome c oxidase assembly from translational regulation in yeast.
Reinhold R et al.
Human Molecular Genetics, 2011
SURF1 missense mutations promote a mild Leigh phenotype.
Piekutowska-Abramczuk D et al.
Clinical Genetics, 2009
Isolated deficiencies of OXPHOS complexes I and IV are identified accurately and quickly by simple enzyme activity immunocapture assays.
Willis JH et al.
Biochimica Et Biophysica Acta, 2009
Respiratory mutations lead to different pleiotropic effects on OXPHOS complexes in yeast and in human cells.
Marsy S et al.
Febs Letters, 2008
The first patient diagnosed with cytochrome c oxidase deficient Leigh syndrome: progress report.
Coenen MJ et al.
Journal of Inherited Metabolic Disease, 2006
Mutations in the SURF1 gene associated with Leigh syndrome and cytochrome C oxidase deficiency.
Péquignot MO et al.
Human Mutation, 2001
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