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Surfeit 1

This gene encodes a protein localized to the inner mitochondrial membrane and thought to be involved in the biogenesis of the cytochrome c oxidase complex. The protein is a member of the SURF1 family, which includes the related yeast protein SHY1 and rickettsial protein RP733. The gene is located in the surfeit gene cluster, a group of very tightly linked genes that do not share sequence similarity, where it shares a bidirectional promoter with SURF2 on the opposite strand. Defects in this gene are a cause of Leigh syndrome, a severe neurological disorder that is commonly associated with systemic cytochrome c oxidase deficiency. [provided by RefSeq, Jul 2008] (from NCBI)
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Top mentioned proteins: HAD, CAN, AGE, SCO2, OUT
Papers on SURF1
Peripheral neuropathy in genetically characterized patients with mitochondrial disorders: A study from south India.
Taly et al., Bengaluru, India. In Mitochondrion, Feb 2016
RESULTS: The study cohort included 18 patients (age range: 18months-50years, M:F- 1.2:1).The genotype included mitochondrial DNA point mutations (n=11), SURF1 mutations (n=4) and POLG1(n=3).
Loss of the smallest subunit of cytochrome c oxidase, COX8A, causes Leigh-like syndrome and epilepsy.
Kunz et al., Bonn, Germany. In Brain, Jan 2016
The loss of the wild-type COX8A protein severely impairs the stability of the entire cytochrome c oxidase enzyme complex and manifests in isolated complex IV deficiency in skeletal muscle and fibroblasts, similar to the frequent c.845_846delCT mutation in the assembly factor SURF1 gene.
Combined activation of the energy and cellular-defense pathways may explain the potent anti-senescence activity of methylene blue.
Dhahbi et al., Colton, United States. In Redox Biol, Dec 2015
MB induced AMPK phosphorylation in a transient pattern, which was followed by the induction of PGC1α and SURF1: both are inducers of mitochondrial and complex-IV biogenesis.
Magnetic resonance imaging correlates of genetically characterized patients with mitochondrial disorders: A study from south India.
Thangaraj et al., Bengaluru, India. In Mitochondrion, Nov 2015
RESULTS: The patients were classified into three groups according to the genotype, Mitochondrial point mutations and deletions (n=21), SURF1 mutations (n=7) and POLG1 (n=5).
Exome Sequencing and Linkage Analysis Identified Novel Candidate Genes in Recessive Intellectual Disability Associated with Ataxia.
Kahrizi et al., Tehrān, Iran. In Arch Iran Med, Oct 2015
RESULTS: We identified three novel candidate genes, RIPPLY1, MRPL10, SNX14, and a new mutation in known gene SURF1.
[Diagnosis of mitochondrial disorders in children with next generation sequencing].
Wu et al., Beijing, China. In Zhonghua Er Ke Za Zhi, Oct 2015
Ten mitochondrial disease patients harbored homozygous or compound heterozygous mutations in 5 genes previously shown to cause disease: SURF1, PDHA1, NDUFV1, SUCLA2 and SUCLG1, which had 14 mutations, and 7 of the 14 mutations have not been reported.
Brain imaging and genetic risk in the pediatric population, part 1: inherited metabolic diseases.
Vedolin et al., Rio Grande, Brazil. In Neuroimaging Clin N Am, Feb 2015
Some MR phenotypes related to specific gene mutations were found, such as bilateral hypertrophy of inferior olives in patients harboring POLG and SURF1 mutations, and central lesions in the cervical spinal cord in patients with nonketotic hyperglycinemia harboring GLRX5 gene mutation.
Long survival in Leigh syndrome: new cases and review of literature.
Lücke et al., Bochum, Germany. In Neuropediatrics, 2014
It is commonly associated with systemic cytochrome c oxidase (COX) deficiency and mutations in the SURF1 gene (MIM 185620), encoding a putative assembly or maintenance factor of COX.
Noninvasive diagnostics of mitochondrial disorders in isolated lymphocytes with high resolution respirometry.
Houštěk et al., Praha, Czech Republic. In Bba Clin, 2014
Low respiration with NADH-dependent substrates and increased respiration with glycerol-3-phosphate revealed complex I defects; changes in p 50 for oxygen and elevated uncoupling control ratio pointed to complex IV deficiency due to SURF1 or SCO2 mutation; high oligomycin sensitivity of state 3-ADP respiration, upregulated mitochondrial membrane potential and low content of complex V were found in lymphocytes with ATP synthase deficiency due to TMEM70 mutations.
Non-invasive screening of cytochrome c oxidase deficiency in children using a dipstick immunocapture assay.
Hansíková et al., Praha, Czech Republic. In Folia Biol (praha), 2013
All three patients with confirmed CIV deficiency due to mutations in the SURF1 gene exhibited significantly lower amounts of CIV than the similarly aged controls; significantly lower amounts were also observed in two new patients, for whom later molecular analysis also confirmed pathologic mutations in the SURF1 gene.
Hypertrophic olivary degeneration on magnetic resonance imaging in mitochondrial syndromes associated with POLG and SURF1 mutations.
Omer et al., London, United Kingdom. In J Neurol, 2013
The third case was a child with Leigh syndrome due to SURF1 gene mutations, who presented with a generalized tremor.
Adaptation of respiratory chain biogenesis to cytochrome c oxidase deficiency caused by SURF1 gene mutations.
Houštěk et al., Praha, Czech Republic. In Biochim Biophys Acta, 2012
Analysis of fibroblast cell lines from 9 patients with SURF1 mutations revealed a 70% decrease of the COX complex content to be associated with 32-54% upregulation of respiratory chain complexes I, III and V and accumulation of Cox5a subunit.
Peripheral neuropathy associated with mitochondrial disease in children.
Ouvrier et al., Sydney, Australia. In Dev Med Child Neurol, 2012
While it is not definite that the characteristics of the neuropathy would help in directing genetic testing without the requirement for invasive skin, muscle or liver biopsies, there appears to be some evidence for this hypothesis in Leigh syndrome, in which nuclear SURF1 mutations cause a demyelinating neuropathy and mitochondrial DNA MTATP6 mutations cause an axonal neuropathy.
Hypoxic and hypercapnic challenges unveil respiratory vulnerability of Surf1 knockout mice, an animal model of Leigh syndrome.
Dutschmann et al., Göttingen, Germany. In Mitochondrion, 2011
Compared to wild type (WT) preparations Surf1 knockout preparations had a higher baseline respiratory frequency and abnormal responses to hypoxia and hypercapnia that involved both respiratory frequency and motor nerve discharge pattern.
Analysis of Leigh syndrome mutations in the yeast SURF1 homolog reveals a new member of the cytochrome oxidase assembly factor family.
Winge et al., Salt Lake City, United States. In Mol Cell Biol, 2010
Analysis of mutations in the SURF1 homolog Shy1 revealed Coa4, a new member of the cytochrome oxidase assembly factor family.
[Syndrome Leigh caused by mutations in the SURF1 gene: clinical and molecular-genetic characteristics].
Matiushchenko et al., In Zh Nevrol Psikhiatr Im S S Korsakova, 2009
mutations (574-575insCTGT, 311-321del10insAT and IVS8-1G>) were also frequent in the Russian population.
SURF1 missense mutations promote a mild Leigh phenotype.
Pronicka et al., Warsaw, Poland. In Clin Genet, 2009
The presence of a missense mutation in the SURF1 gene may correlate with a milder course and longer survival of Leigh patients.
[Mitochondrial diseases in children including Leigh syndrome--biochemical and molecular background].
Pronicki et al., Warsaw, Poland. In Postepy Biochem, 2007
Special clinical phenotypes are associated with the mutations in SURF1 gene, in SCO2 gene and with mtDNA depletion syndromes.
Fatal infantile cardioencephalomyopathy with COX deficiency and mutations in SCO2, a COX assembly gene.
Schon et al., Thessaloníki, Greece. In Nat Genet, 1999
The clinical phenotype caused by mutations in human SCO2 differs from that caused by mutations in SURF1, the only other known COX assembly gene associated with a human disease, Leigh syndrome.
SURF1, encoding a factor involved in the biogenesis of cytochrome c oxidase, is mutated in Leigh syndrome.
Shoubridge et al., Montréal, Canada. In Nat Genet, 1998
Analysis of a candidate gene (SURF1) of unknown function revealed several mutations, all of which predict a truncated protein.
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