Associated Papers
Characterization of Shy1, the Schizosaccharomyces pombe homolog of human SURF1.
Luo Y et al.
Scientific Reports, 2024
Clinical Diagnosis and Treatment of Leigh Syndrome Based on SURF1: Genotype and Phenotype.
Lee IC et al.
Antioxidants (basel, Switzerland), 2021
Whole exome sequencing uncovered highly penetrant recessive mutations for a spectrum of rare genetic pediatric diseases in Bangladesh.
Akter H et al.
Npj Genomic Medicine, 2021
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
31345222 (PubMed )
Supplement: 12920_2019_543_MOESM6_ESM.xlsx › S5C
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
Light and electron microscopy characteristics of the muscle of patients with SURF1 gene mutations associated with Leigh disease.
Pronicki M et al.
Journal of Clinical Pathology, 2008
[Cytochrome c oxidase deficiency--SURF1 mutations].
Naito E et al.
Nihon Rinsho. Japanese Journal of Clinical Medicine, 2002
Mutations in the SURF1 gene associated with Leigh syndrome and cytochrome C oxidase deficiency.
Péquignot MO et al.
Human Mutation, 2001
Two novel mutations of SURF1 in Leigh syndrome with cytochrome c oxidase deficiency.
Teraoka M et al.
Human Genetics, 1999
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