SURF1

Summary

Gene Symbol: SURF1
Description: SURF1, cytochrome c oxidase assembly factor
Alias: CMT4K, surfeit locus protein 1, surfeit 1
Species: human

Top Publications

  1. ncbi Characterization of SURF-1 expression and Surf-1p function in normal and disease conditions
    V Tiranti
    Istituto Nazionale Neurologico C Besta, Via Celoria 11, 20133 Milano, Italy
    Hum Mol Genet 8:2533-40. 1999
  2. ncbi SURF1, encoding a factor involved in the biogenesis of cytochrome c oxidase, is mutated in Leigh syndrome
    Z Zhu
    Montreal Neurological Institute, Quebec, Canada
    Nat Genet 20:337-43. 1998
  3. ncbi Two novel mutations of SURF1 in Leigh syndrome with cytochrome c oxidase deficiency
    M Teraoka
    Department of Pediatrics, Okayama University Medical School, Japan
    Hum Genet 105:560-3. 1999
  4. ncbi Missense mutations in SURF1 associated with deficient cytochrome c oxidase assembly in Leigh syndrome patients
    A Poyau
    Centre de Genetique Moleculaire et Cellulaire, UMR 5534, Centre National de la Recherche Scientifique, Université Claude Bernard de Lyon I, Villeurbanne, France
    Hum Genet 106:194-205. 2000
  5. ncbi Three novel SURF-1 mutations in Japanese patients with Leigh syndrome
    Yukiko Ogawa
    Department of Pediatrics, School of Medicine, University of Tokushima, Tokushima, Japan
    Pediatr Neurol 26:196-200. 2002
  6. ncbi [A new missense mutation of 574C>T in the SURF1 gene--biochemical and molecular genetic study in seven children with Leigh syndrome]
    M Capková
    Klinika dĕtského a dorostového lékarství a Centrum integrované genomiky 1 LF UK a VFN, Praha
    Cas Lek Cesk 141:636-41. 2002
  7. ncbi Leigh Syndrome with COX deficiency and SURF1 gene mutations: MR imaging findings
    Andrea Rossi
    Department of Pediatric Neuroradiology, G Gaslini Children s Research Hospital, Largo G Gaslini 5, I 16147 Genoa, Italy
    AJNR Am J Neuroradiol 24:1188-91. 2003
  8. ncbi SURF1 gene mutations in three cases with Leigh syndrome and cytochrome c oxidase deficiency
    A R Moslemi
    Department of Pathology, Sahlgrenska University Hospital, Goteborg, Sweden
    Neurology 61:991-3. 2003
  9. ncbi Novel SURF1 mutation in a child with subacute encephalopathy and without the radiological features of Leigh Syndrome
    Leonardo Salviati
    Department of Neurology, Columbia University College of Physicians and Surgeons, New York, New York, USA
    Am J Med Genet A 128:195-8. 2004
  10. ncbi Constitutive knockout of Surf1 is associated with high embryonic lethality, mitochondrial disease and cytochrome c oxidase deficiency in mice
    Alessandro Agostino
    Unit of Molecular Neurogenetics, Pierfranco and Luisa Mariani Center for the Study of Children s Mitochondrial Disorders, Istituto Nazionale Neurologico C Besta IRCCS, Milano, Italy
    Hum Mol Genet 12:399-413. 2003

Research Grants

  1. Assembly of Redox Metal Centers in Cytochrome Oxidase
    Dennis R Winge; Fiscal Year: 2013
  2. Eric L Hegg; Fiscal Year: 2015
  3. Transcriptional profiling in childhood diseases
    William Craigen; Fiscal Year: 2006
  4. 7th Intl Symposium-Neurobiology/Neuroendocrinology/Aging
    Andrzej Bartke; Fiscal Year: 2004
  5. Aging:Mechanisms & Prevention:34th Annual Meeting of AGE
    Andrzej Bartke; Fiscal Year: 2005
  6. Eighth & Ninth International Symposia on Neurobiology & Neuroendocrinology Aging
    Andrzej Bartke; Fiscal Year: 2007
  7. Transmission genetics of mammalian mitochondrial DNA
    Eric Shoubridge; Fiscal Year: 2008

Scientific Experts

Detail Information

Publications103 found, 100 shown here

  1. ncbi Characterization of SURF-1 expression and Surf-1p function in normal and disease conditions
    V Tiranti
    Istituto Nazionale Neurologico C Besta, Via Celoria 11, 20133 Milano, Italy
    Hum Mol Genet 8:2533-40. 1999
    ..However, detection of residual amounts of fully assembled complex suggests a certain degree of redundancy of this system...
  2. ncbi SURF1, encoding a factor involved in the biogenesis of cytochrome c oxidase, is mutated in Leigh syndrome
    Z Zhu
    Montreal Neurological Institute, Quebec, Canada
    Nat Genet 20:337-43. 1998
    ..Analysis of a candidate gene (SURF1) of unknown function revealed several mutations, all of which predict a truncated protein...
  3. ncbi Two novel mutations of SURF1 in Leigh syndrome with cytochrome c oxidase deficiency
    M Teraoka
    Department of Pediatrics, Okayama University Medical School, Japan
    Hum Genet 105:560-3. 1999
    ..Zhu et al. (1998) and Tiranti et al. (1998) found nine mutations in the surfeit 1 (SURF1) gene in LS families with COX deficiency...
  4. ncbi Missense mutations in SURF1 associated with deficient cytochrome c oxidase assembly in Leigh syndrome patients
    A Poyau
    Centre de Genetique Moleculaire et Cellulaire, UMR 5534, Centre National de la Recherche Scientifique, Université Claude Bernard de Lyon I, Villeurbanne, France
    Hum Genet 106:194-205. 2000
    ..However, several COX-protein subunits were severely depressed, indicating deficient COX assembly. Surf1, a factor involved in COX biogenesis, was recently reported as mutated in LS-COX- patients, all mutations ..
  5. ncbi Three novel SURF-1 mutations in Japanese patients with Leigh syndrome
    Yukiko Ogawa
    Department of Pediatrics, School of Medicine, University of Tokushima, Tokushima, Japan
    Pediatr Neurol 26:196-200. 2002
    ....
  6. ncbi [A new missense mutation of 574C>T in the SURF1 gene--biochemical and molecular genetic study in seven children with Leigh syndrome]
    M Capková
    Klinika dĕtského a dorostového lékarství a Centrum integrované genomiky 1 LF UK a VFN, Praha
    Cas Lek Cesk 141:636-41. 2002
    ..The most common form of the disease is associated with deficiency of the cytochrome c oxidase (COX) due to SURF1 gene mutations...
  7. ncbi Leigh Syndrome with COX deficiency and SURF1 gene mutations: MR imaging findings
    Andrea Rossi
    Department of Pediatric Neuroradiology, G Gaslini Children s Research Hospital, Largo G Gaslini 5, I 16147 Genoa, Italy
    AJNR Am J Neuroradiol 24:1188-91. 2003
    Mutations in the nuclear SURF1 gene are specifically associated with cytochrome c oxidase (COX)-deficient Leigh syndrome...
  8. ncbi SURF1 gene mutations in three cases with Leigh syndrome and cytochrome c oxidase deficiency
    A R Moslemi
    Department of Pathology, Sahlgrenska University Hospital, Goteborg, Sweden
    Neurology 61:991-3. 2003
    ..Mutations in SURF1 have been shown to be an important cause of LS with cytochrome c oxidase (COX) deficiency...
  9. ncbi Novel SURF1 mutation in a child with subacute encephalopathy and without the radiological features of Leigh Syndrome
    Leonardo Salviati
    Department of Neurology, Columbia University College of Physicians and Surgeons, New York, New York, USA
    Am J Med Genet A 128:195-8. 2004
    Mutations in SURF1, a gene involved in cytochrome-c oxidase (COX) assembly, cause COX deficiency and Leigh Syndrome (LS)...
  10. ncbi Constitutive knockout of Surf1 is associated with high embryonic lethality, mitochondrial disease and cytochrome c oxidase deficiency in mice
    Alessandro Agostino
    Unit of Molecular Neurogenetics, Pierfranco and Luisa Mariani Center for the Study of Children s Mitochondrial Disorders, Istituto Nazionale Neurologico C Besta IRCCS, Milano, Italy
    Hum Mol Genet 12:399-413. 2003
    We report here the creation of a constitutive knockout mouse for SURF1, a gene encoding one of the assembly proteins involved in the formation of cytochrome c oxidase (COX)...
  11. doi Two variants of the assembly factor Surf1 target specific terminal oxidases in Paracoccus denitrificans
    Freya A Bundschuh
    Institut fur Biochemie, Abteilung Molekulare Genetik, Johann Wolfgang Goethe Universitat, Frankfurt am Main, Germany
    Biochim Biophys Acta 1777:1336-43. 2008
    Biogenesis of cytochrome c oxidase (COX) relies on a large number of assembly proteins, one of them being Surf1. In humans, the loss of Surf1 function is associated with Leigh syndrome, a fatal neurodegenerative disorder...
  12. ncbi Shy1p occurs in a high molecular weight complex and is required for efficient assembly of cytochrome c oxidase in yeast
    L G Nijtmans
    Section for Molecular Biology, Swammerdam Institute of Life Sciences, University of Amsterdam, The Netherlands
    FEBS Lett 498:46-51. 2001
    ..However its exact role in this process remains to be elucidated. We studied SHY1, the yeast homologue of SURF1, with an aim to obtain a better understanding of the molecular pathogenesis of cytochrome c oxidase (COX) ..
  13. ncbi The Surf-1 and Surf-2 genes and their essential bidirectional promoter elements are conserved between mouse and human
    A Lennard
    Eukaryotic Gene Organisation and Expression Laboratory, Imperial Cancer Research Fund, London, UK
    DNA Cell Biol 13:1117-26. 1994
    ..Human Surf-1 and Surf-2 cDNAs have been cloned and sequenced. The putative human Surf-1 and Surf-2 proteins are 77% and 69% identical to the corresponding mouse proteins...
  14. ncbi MRI in Leigh syndrome with SURF1 gene mutation
    Mario Savoiardo
    Ann Neurol 51:138-9. 2002
  15. ncbi [Cytochrome c oxidase deficiency--SURF1 mutations]
    Etsuo Naito
    Department of Pediatrics, School of Medicine, University of Tokushima
    Nihon Rinsho 60:446-9. 2002
  16. ncbi Genetic defects of cytochrome c oxidase assembly
    P Pecina
    Department of Bioenergetics, Institute of Physiology and Center for Integrated Genomics, Academy of Sciences of the Czech Republic, Prague, Czech Republic
    Physiol Res 53:S213-23. 2004
    ..All these mutations are located in genes encoding COX-specific assembly proteins including SURF1, SCO1, SCO2, COX10, and COX15...
  17. ncbi Decreased affinity for oxygen of cytochrome-c oxidase in Leigh syndrome caused by SURF1 mutations
    Petr Pecina
    Institute of Physiology and Center for Integrated Genomics, Academy of Sciences of the Czech Republic, 142 20 Prague, Czech Republic
    Am J Physiol Cell Physiol 287:C1384-8. 2004
    Mutations in the gene SURF1 prevent synthesis of cytochrome-c oxidase (COX)-specific assembly protein and result in a fatal neurological disorder, Leigh syndrome...
  18. ncbi [Cytochrome c oxydase-deficient Leigh syndrome with homozygous mutation in SURF1 gene]
    S Monnot
    Service de Genetique Medicale, Hopital Archet 2, 151, Route de Saint Antoine de Ginestiere, 06202 Nice cedex 03, France
    Arch Pediatr 12:568-71. 2005
    Leigh syndrome is a heterogeneous disorder, usually due to a defect in oxidative metabolism. Mutations in SURF1 gene have been identified in patients with cytochrome c oxidase deficiency...
  19. ncbi Unusual clinical presentations in four cases of Leigh disease, cytochrome C oxidase deficiency, and SURF1 gene mutations
    Stacey K H Tay
    Department of Neurology, Columbia University, New York, NY, USA
    J Child Neurol 20:670-4. 2005
    Mutations in the SURF1 gene are the most frequent causes of Leigh disease with cytochrome c oxidase deficiency...
  20. ncbi Sequence analysis of the structural nuclear encoded subunits and assembly genes of cytochrome c oxidase in a cohort of 10 isolated complex IV-deficient patients revealed five mutations
    Marieke J H Coenen
    Department of Paediatrics, Nijmegen Centre for Mitochondrial Disorders, Radboud University Nijmegen Medical Centre, 6500 HB Nijmegen, The Netherlands
    J Child Neurol 21:508-11. 2006
    ..Four patients carried mutations in the complex IV assembly gene SURF1. One patient harbored a mutation in the COX10 gene involved in heme A synthesis...
  21. pmc Shy1 couples Cox1 translational regulation to cytochrome c oxidase assembly
    David U Mick
    Institut fur Biochemie und Molekularbiologie, Zentrum für Biochemie und Molekulare Zellforschung, Universitat Freiburg, Freiburg, Germany
    EMBO J 26:4347-58. 2007
    ..Shy1 is an assembly factor for complex IV in Saccharomyces cerevisiae and mutations of its human homolog, SURF1, are the most frequent cause for Leigh syndrome...
  22. doi Expression of the Ciona intestinalis alternative oxidase (AOX) in Drosophila complements defects in mitochondrial oxidative phosphorylation
    Daniel J M Fernández-Ayala
    Institute of Medical Technology, Tampere University Hospital, University of Tampere, 33014 Tampere, Finland
    Cell Metab 9:449-60. 2009
    ..to complement the semilethality of partial knockdown of both cyclope (COXVIc) and the complex IV assembly factor Surf1. It also rescued the locomotor defect and excess mitochondrial ROS production of flies mutated in dj-1beta, a ..
  23. doi Leigh's disease associated with a dorsal midbrain syndrome
    Stephanie K West
    Queen Elizabeth II Hospital, Hertfordshire, United Kingdom
    J Pediatr Ophthalmol Strabismus 46:304-5. 2009
    ..Magnetic resonance imaging, skin biopsy, and genetic testing confirmed the cause to be Leigh's disease due to two SURF1 mutations...
  24. doi Hypoxic and hypercapnic challenges unveil respiratory vulnerability of Surf1 knockout mice, an animal model of Leigh syndrome
    Georg M Stettner
    Department of Pediatrics and Pediatric Neurology, University Medicine Gottingen, Georg August University, Robert Koch Str 40, 37075 Gottingen, Germany
    Mitochondrion 11:413-20. 2011
    b>Surf1 gene mutations were detected as a main cause for Leigh syndrome (LS), also known as infantile subacute necrotizing encephalomyelopathy...
  25. doi Next-generation sequencing for mitochondrial diseases: a wide diagnostic spectrum
    Valeria Vasta
    University of Washington School of Medicine, Seattle Children s Research Institute, C9S, 1900 9th Avenue, Seattle, WA 98101, USA
    Pediatr Int 54:585-601. 2012
    ..Clinical sequencing tests are available only for a limited number of genes. Recently, massively parallel sequencing has become a powerful tool for testing genetically heterogeneous conditions such as mitochondrial disorders...
  26. doi Hypertrophic olivary degeneration on magnetic resonance imaging in mitochondrial syndromes associated with POLG and SURF1 mutations
    K J Kinghorn
    Department of Neurology, St George s Hospital, London, UK
    J Neurol 260:3-9. 2013
    ..The third case was a child with Leigh syndrome due to SURF1 gene mutations, who presented with a generalized tremor...
  27. doi Improved insulin sensitivity associated with reduced mitochondrial complex IV assembly and activity
    Sathyaseelan S Deepa
    Barshop Institute for Longevity and Aging Studies, University of Texas Health Science Center, San Antonio, TX78245, USA
    FASEB J 27:1371-80. 2013
    Mice lacking Surf1, a complex IV assembly protein, have ∼50-70% reduction in cytochrome c oxidase activity in all tissues yet a paradoxical increase in lifespan...
  28. doi MITRAC links mitochondrial protein translocation to respiratory-chain assembly and translational regulation
    David U Mick
    Department for Biochemistry II, University of Gottingen, D 37073 Gottingen, Germany
    Cell 151:1528-41. 2012
    ..We establish an unexpected molecular link between the TIM23 transport machinery and assembly of respiratory-chain complexes that regulate mitochondrial protein synthesis in response to their assembly state...
  29. pmc SURF1 deficiency causes demyelinating Charcot-Marie-Tooth disease
    Andoni Echaniz-Laguna
    From the Département de Neurologie A E L, Hopitaux Universitaires, Strasbourg INSERM U692 A E L, Universite de Strasbourg, France Unit of Molecular Neurogenetics D G, L M, M Z, Fondazione Istituto Neurologico Carlo Besta, Istituto di Ricovero e Cura a Carattere Scientifico, Milan, Italy Service des Maladies Héréditaires du Métabolisme M C, M M, S P, B M deC, Centre de Biotechnologie Cellulaire I R, Unité de Cardiogénétique Moléculaire D B, and Service de Neurobiologie P L, Centre de Biologie et de Pathologie Est, CHU Lyon, Bron, France and Département d Anatomopathologie B L, Hopitaux Universitaires, Strasbourg, France
    Neurology 81:1523-30. 2013
    To investigate whether mutations in the SURF1 gene are a cause of Charcot-Marie-Tooth (CMT) disease.
  30. pmc A founder mutation in PET100 causes isolated complex IV deficiency in Lebanese individuals with Leigh syndrome
    Sze Chern Lim
    Murdoch Childrens Research Institute, Royal Children s Hospital, Melbourne, VIC 3052, Australia Department of Paediatrics, University of Melbourne, Melbourne, VIC 3052, Australia
    Am J Hum Genet 94:209-22. 2014
    ..with mitochondrial complex IV (or cytochrome c oxidase) deficiency have mutations in the biogenesis factor SURF1. We studied eight complex IV-deficient LS individuals from six families of Lebanese origin...
  31. pmc Complex IV-deficient Surf1(-/-) mice initiate mitochondrial stress responses
    Daniel A Pulliam
    Oklahoma Medical Research Foundation, Free Radical Biology and Aging Research Program, 825NE 13th Street, Oklahoma City, OK 73104, U S A
    Biochem J 462:359-71. 2014
    Mutations in SURF1 (surfeit locus protein 1) COX (cytochrome c oxidase) assembly protein are associated with Leigh's syndrome, a human mitochondrial disorder that manifests as severe mitochondrial phenotypes and early lethality...
  32. pmc Effect of p53 on mitochondrial morphology, import, and assembly in skeletal muscle
    Ayesha Saleem
    School of Kinesiology and Health Science, York University, Toronto, Ontario, Canada and Muscle Health Research Centre, York University, Toronto, Ontario, Canada
    Am J Physiol Cell Physiol 308:C319-29. 2015
    ..assembly of complex IV within the IMF fractions from KO mice in tandem with lower levels of the assembly protein Surf1. This observed defect in complex IV assembly may facilitate the previously documented impairment in mitochondrial ..
  33. doi Brain imaging and genetic risk in the pediatric population, part 1: inherited metabolic diseases
    Maria Gabriela Longo
    Radiology Service, Hospital de Clinicas de Porto Alegre, Porto Alegre, Rio Grande do Sul, Brazil
    Neuroimaging Clin N Am 25:31-51. 2015
    ..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 ..
  34. doi Loss of the smallest subunit of cytochrome c oxidase, COX8A, causes Leigh-like syndrome and epilepsy
    Kerstin Hallmann
    1 Department of Epileptology and Life and Brain Centre, University of Bonn, Bonn, Germany
    Brain 139:338-45. 2016
    ..845_846delCT mutation in the assembly factor SURF1 gene...
  35. doi Identification of a novel deletion in SURF1 gene: Heterogeneity in Leigh syndrome with COX deficiency
    Carolina Ribeiro
    CNC Center for Neuroscience and Cell Biology, Biochemical Genetics Laboratory, University of Coimbra, Portugal
    Mitochondrion 31:84-88. 2016
    ..It is a genetically heterogeneous disease. The mutations in SURF1 gene are the most frequently known cause...
  36. pmc Shy1p is necessary for full expression of mitochondrial COX1 in the yeast model of Leigh's syndrome
    Antoni Barrientos
    Department of Biological Sciences, Columbia University, New York, NY 10027, USA
    EMBO J 21:43-52. 2002
    ..Mutations in the homologous human gene (SURF1) have been reported to cause Leigh's syndrome, a neurological disease associated with COX deficiency...
  37. ncbi Functional alteration of cytochrome c oxidase by SURF1 mutations in Leigh syndrome
    Petr Pecina
    Institute of Physiology and Centre for Integrated Genomics, Academy of Sciences of the Czech Republic, Prague, Czech Republic
    Biochim Biophys Acta 1639:53-63. 2003
    ..Leigh syndrome) due to cytochrome c oxidase (COX) deficiency is often caused by mutations in the SURF1 gene, encoding the Surf1 protein essential for COX assembly...
  38. ncbi Retrospective, multicentric study of 180 children with cytochrome C oxidase deficiency
    Marek Böhm
    Department of Pediatrics, Faculty of Medicine, Charles University, Prague, Czech Republic
    Pediatr Res 59:21-6. 2006
    ..Pathogenic mutations in mitochondrial or nuclear DNA were established in 75 patients. Mutations in surfeit locus protein 1 gene (SURF1) were found in 47 children with Leigh syndrome; 2bp deletion 845-846delCT was found in 89% of ..
  39. ncbi The first patient diagnosed with cytochrome c oxidase deficient Leigh syndrome: progress report
    M J H Coenen
    Nijmegen Centre for Mitochondrial Disorder, Radboud University Nijmegen Medical Centre, The Netherlands
    J Inherit Metab Dis 29:212-3. 2006
    Mutations in SURF1, an assembly gene for cytochrome c oxidase (COX), the fourth complex of the oxidative phosphorylation system, are most frequently encountered in patients with COX deficiency...
  40. doi Two Japanese patients with Leigh syndrome caused by novel SURF1 mutations
    Junpei Tanigawa
    Division of Neurology, Kanagawa Children s Medical Center, Minami Ku, Yokohama 232 8555, Japan
    Brain Dev 34:861-5. 2012
    ..two patients with Leigh syndrome that showed a combination of facial dysmorphism and MRI imaging indicating an SURF1 deficiency, which was confirmed by sequence analysis...
  41. doi Hypertrichosis in presymptomatic mitochondrial disease
    Fabian Baertling
    Department of General Pediatrics, Neonatology and Pediatric Cardiology, University Children s Hospital, Heinrich Heine University, Moorenstr 5, 40225, Dusseldorf, Germany
    J Inherit Metab Dis 36:1081-2. 2013
    ..we present images of distinct hypertrichosis in an otherwise asymptomatic one-year-old patient with pathogenic SURF1 gene mutations...
  42. pmc Decreased in vitro mitochondrial function is associated with enhanced brain metabolism, blood flow, and memory in Surf1-deficient mice
    Ai Ling Lin
    1 Research Imaging Institute, University of Texas Health Science Center at San Antonio, San Antonio, Texas, USA 2 Barshop Institute for Longevity and Aging Studies, University of Texas Health Science Center at San Antonio, San Antonio, Texas, USA 3 Department of Cellular and Structural Biology, University of Texas Health Science Center at San Antonio, San Antonio, Texas, USA
    J Cereb Blood Flow Metab 33:1605-11. 2013
    ..Mice carrying a homozygous knockout (KO) of the Surf1 gene showed a significant decrease in mitochondrial electron transport chain Complex IV activity, yet displayed ..
  43. doi Peripheral neuropathy associated with mitochondrial disease in children
    Manoj P Menezes
    The Institute for Neuroscience and Muscle Research, The Children s Hospital at Westmead, Sydney, New South Wales, Australia
    Dev Med Child Neurol 54:407-14. 2012
    ..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...
  44. doi Adaptation of respiratory chain biogenesis to cytochrome c oxidase deficiency caused by SURF1 gene mutations
    Nikola Kovarova
    Institute of Physiology, Academy of Science of the Czech Republic, v v i, Prague, Czech Republic
    Biochim Biophys Acta 1822:1114-24. 2012
    The loss of Surf1 protein leads to a severe COX deficiency manifested as a fatal neurodegenerative disorder, the Leigh syndrome (LS(COX)). Surf1 appears to be involved in the early step of COX assembly but its function remains unknown...
  45. doi High-resolution melting analysis of 15 genes in 60 patients with cytochrome-c oxidase deficiency
    Alzbeta Vondrácková
    Department of Pediatrics and Adolescent Medicine, Charles University in Prague and General University Hospital in Prague, Prague, Czech Republic
    J Hum Genet 57:442-8. 2012
    ..Mutations in genes for the assembly factors SURF1 and SCO2 are prevalent in children with COX deficiency in the Slavonic population...
  46. doi Effects of image charges, interfacial charge discreteness, and surface roughness on the zeta potential of spherical electric double layers
    Zecheng Gan
    Department of Mathematics, Shanghai Jiao Tong University, Shanghai 200240, China
    J Chem Phys 137:034708. 2012
    ..Systematic comparisons were carried out between three distinct models for interfacial charges: (1) SURF1 with uniform surface charges, (2) SURF2 with discrete point charges on the interface, and (3) SURF3 with discrete ..
  47. pmc Identification of a repeated sequence in the genome of the sea urchin which is transcribed by RNA polymerase III and contains the features of a retroposon
    P E Nisson
    Cell Biology Group, Worcester Foundation for Experimental Biology Shrewsbury, MA 01545
    Nucleic Acids Res 16:1431-52. 1988
    ..This retroposon-like sequence, SURF1-1, is a member of a family which is dispersed and repeated about 800 times in the genome, referred to as SURF1 (..
  48. ncbi The organization and conservation of the human Surfeit gene cluster and its localization telomeric to the c-abl and can proto-oncogenes at chromosome band 9q34.1
    J Yon
    Eukaryotic Gene Organization Laboratory, Imperial Cancer Research Fund, London, UK
    Hum Mol Genet 2:237-40. 1993
    ..1 were analyzed by FISH using the human Surfeit clone as a probe. These analyses locate the human Surfeit locus telomeric to the c-abl and can genes at chromosome band 9q34.1...
  49. ncbi Surf5: a gene in the tightly clustered mouse surfeit locus is highly conserved and transcribed divergently from the rpL7A (Surf3) gene
    K Garson
    Eukaryotic Gene Organization and Expression Laboratory, Imperial Cancer Research Fund, London, United Kingdom
    Genomics 30:163-70. 1995
    The four previously characterized genes (Surf1 to 4) of the mouse Surfeit locus do not share any sequence homology, and the transcription of each gene alternates with respect to its neighbor(s)...
  50. ncbi The human Surfeit locus
    T Duhig
    Eukaryotic Gene Organisation and Expression Laboratory, Imperial Cancer Research Fund, Lincoln s Inn Fields, London, WC2A 3PX, United Kingdom
    Genomics 52:72-8. 1998
    ..Surfeit locus containing the six sequence-unrelated housekeeping genes Surf-1 to Surf-6 (HGMW-approved symbols SURF1-SURF6) has been determined...
  51. ncbi Biochemical, genetic and immunoblot analyses of 17 patients with an isolated cytochrome c oxidase deficiency
    J C Von Kleist-Retzow
    Unité de Recherches sur les Handicaps Génétiques de l Enfant INSERM U393, Hopital des Enfants Malades, Paris, France
    Biochim Biophys Acta 1455:35-44. 1999
    ..specific monoclonal antibodies revealed that in most patients, including in a patient with a novel mutation in the SURF1 gene, steady-state levels of all investigated COX subunits were decreased...
  52. ncbi Fatal infantile cardioencephalomyopathy with COX deficiency and mutations in SCO2, a COX assembly gene
    L C Papadopoulou
    Department of Pharmaceutical Sciences, Aristotle University of Thessaloniki, Thessaloniki, Macedonia, Greece
    Nat Genet 23:333-7. 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.
  53. ncbi Expression and functional analysis of SURF1 in Leigh syndrome patients with cytochrome c oxidase deficiency
    J Yao
    Montreal Neurological Institute and Department of Human Genetics, McGill University, 3801 University Street, Montreal H3A 2B4, Canada
    Hum Mol Genet 8:2541-9. 1999
    ..cytochrome c oxidase (COX) deficiency is an autosomal recessive neurodegenerative disorder caused by mutations in SURF1. Although SURF1 is ubiquitously expressed, its expression is lower in brain than in other highly aerobic tissues...
  54. ncbi Sequence conservation from human to prokaryotes of Surf1, a protein involved in cytochrome c oxidase assembly, deficient in Leigh syndrome
    A Poyau
    Centre de Genetique Moleculaire et Cellulaire, Centre National de la Recherche Scientifique, Universite Claude Bernard Lyon I, Villeurbanne, France
    FEBS Lett 462:416-20. 1999
    The human SURF1 gene encoding a protein involved in cytochrome c oxidase (COX) assembly, is mutated in most patients presenting Leigh syndrome associated with COX deficiency...
  55. ncbi The role of mitochondria in the pathogenesis of neurodegenerative diseases
    G Manfredi
    Department of Neurology and Neuroscience, Weill Medical College of Cornell University and the New York Hospital, Cornell Medical Center, New York 10021, USA
    Brain Pathol 10:462-72. 2000
    ..and also as a consequence of mutations in nuclear genes directly involved in mitochondrial functions, such as SURF1, frataxin, and paraplegin...
  56. ncbi The incidence of mitochondrial encephalomyopathies in childhood: clinical features and morphological, biochemical, and DNA abnormalities
    N Darin
    Department of Pediatrics, The Queen Silvia Children s Hospital, Goteborg, Sweden
    Ann Neurol 49:377-83. 2001
    ..DNA point mutations, 2 cases with mitochondrial DNA deletions, and 2 cases with nuclear mutations in the SURF1 gene...
  57. ncbi Mutations in the SURF1 gene associated with Leigh syndrome and cytochrome C oxidase deficiency
    M O Pequignot
    Laboratoire CERTO, Faculte Necker, Paris, France
    Hum Mutat 17:374-81. 2001
    ..COX subunits have not been found in patients with LS and COX deficiency, but mutations have been identified in SURF1. SURF1 encodes a factor involved in COX biogenesis...
  58. ncbi A SURF1 gene mutation presenting as isolated leukodystrophy
    S Rahman
    Department of Metabolic Medicine, Great Ormond Street Hospital, London, UK
    Ann Neurol 49:797-800. 2001
    ..case of leukodystrophy with systemic cytochrome oxidase deficiency caused by a loss of function mutation in the SURF1 gene in a 2-year-old girl presenting with failure to thrive, global neurodevelopmental regression, and lactic ..
  59. ncbi Prenatal diagnosis of respiratory chain deficiency by direct mutation screening
    J Amiel
    Département de Génétique et Unité INSERM U 393, 149 rue de Sevres, 75743 Paris Cedex 15, France
    Prenat Diagn 21:602-4. 2001
    ..Here, we report on PD of RCD by direct screening of NDUFV1, SDH-Fp, SCO1 and SURF1 mutations in five unrelated families with complex I, II and IV deficiency, respectively...
  60. ncbi Cytochrome c oxidase deficiency
    E A Shoubridge
    Department of Neurology, McGill University, Montreal, Quebec, Canada
    Am J Med Genet 106:46-52. 2001
    ..Mutations have, however, been identified in several COX assembly factors: SURF1 (Leigh Syndrome), SCO2 (hypertrophic cardiomyopathy), SCO1 (hepatic failure, ketoacidotic coma), and COX10 (..
  61. ncbi Compulsory hyperventilation and hypocapnia of patients with Leigh syndrome associated with SURF1 gene mutations as a cause of low serum bicarbonates
    E Pronicka
    Department of Metabolic Diseases, Children s Memorial Health Institute, Warsaw, Poland
    J Inherit Metab Dis 24:707-14. 2001
    ..The aim of the study was to determine whether respiratory alkalosis is characteristic of patients with LS due to SURF1 mutations...
  62. ncbi A novel mutation in the SURF1 gene in a child with Leigh disease, peripheral neuropathy, and cytochrome-c oxidase deficiency
    Claudio Bruno
    Neuromuscular Diseases Unit, Department of Pediatrics, University of Genova, Istituto Giannina Gaslini, Italy
    J Child Neurol 17:233-6. 2002
    ..Western blot analysis in fibroblasts showed the absence of Surf1 protein...
  63. ncbi Mutation screening in patients with isolated cytochrome c oxidase deficiency
    Sabrina Sacconi
    Department of Neurology, Columbia University College of Physicians and Surgeons, New York, New York 10032, USA
    Pediatr Res 53:224-30. 2003
    ..the three mtDNA genes encoding COX subunits, the 22 mtDNA tRNA genes, and seven COX assembly genes: SCO1, SCO2, SURF1, COX10, COX11, COX15, and COX17...
  64. ncbi Leigh syndrome with cytochrome-c oxidase deficiency and a single T insertion nt 5537 in the mitochondrial tRNATrp gene
    M Tulinius
    Department of Pediatrics, The Queen Silvia Children s Hospital, Goteborg, Sweden
    Neuropediatrics 34:87-91. 2003
    ..are considered to be rare in LS with COX deficiency, the T 5537i mutation should be screened for in cases of LS with COX deficiency when SURF1 gene mutations have been excluded, especially when complex I activity is also decreased.
  65. ncbi Mutations in COX10 result in a defect in mitochondrial heme A biosynthesis and account for multiple, early-onset clinical phenotypes associated with isolated COX deficiency
    Hana Antonicka
    Montreal Neurological Institute, Department of Human Genetics, McGill University, Montreal, H3A 2B4, Canada
    Hum Mol Genet 12:2693-702. 2003
    ..presentations, Leigh Syndrome and hypertrophic cardiomyopathy, have so far only been associated with mutations in SURF1 or SCO2 and COX15, respectively...
  66. pmc Mss51p promotes mitochondrial Cox1p synthesis and interacts with newly synthesized Cox1p
    Xochitl Perez-Martinez
    Department of Molecular Biology and Genetics, Cornell University, Ithaca, NY 14853 2703, USA
    EMBO J 22:5951-61. 2003
    ..SHY1 is a Saccharomyces cerevisiae homolog of human SURF1, which when mutated causes a cytochrome oxidase assembly defect...
  67. ncbi Genotypes and clinical phenotypes in children with cytochrome-c oxidase deficiency
    N Darin
    Department of Pediatrics, Sahlgrenska University Hospital, Goteborg, Sweden
    Neuropediatrics 34:311-7. 2003
    ..Furthermore, nuclear DNA was analysed for mutations in the SURF1, SCO2, COX10, and COX17 genes and cases with mtDNA depletion were analysed for mutations in the TK2 gene...
  68. pmc Mss51p and Cox14p jointly regulate mitochondrial Cox1p expression in Saccharomyces cerevisiae
    Antoni Barrientos
    Department of Biological Sciences, Columbia University, New York, NY, USA
    EMBO J 23:3472-82. 2004
    Mutations in SURF1, the human homologue of yeast SHY1, are responsible for Leigh's syndrome, a neuropathy associated with cytochrome oxidase (COX) deficiency...
  69. ncbi Serological identification of tumor antigens of esophageal squamous cell carcinoma
    Hideaki Shimada
    Department of Academic Surgery, Chiba University Graduate School of Medicine, 1 8 1 Inohana, Chuo Ku, Chiba 260 8670, Japan
    Int J Oncol 26:77-86. 2005
    ..The identified cDNA clones were SURF1, HOOK2, CENP-F, ZIC2, hCLA-iso, Ki-1/57, enigma, HCA25a, SPK and two EST clones named LOC146223 and ..
  70. ncbi Assembly of cytochrome-c oxidase in the absence of assembly protein Surf1p leads to loss of the active site heme
    Daniel Smith
    Department of Biochemistry, University of Mississippi Medical Center, Jackson, Mississippi 39216 4505, USA
    J Biol Chem 280:17652-6. 2005
    ..The results suggest that maturation of the heme a(3)-Cu(B) center is a step that limits the association of subunits I and II in the assembly of mitochondrial cytochrome oxidase...
  71. pmc Tissue-specific cytochrome c oxidase assembly defects due to mutations in SCO2 and SURF1
    Lukas Stiburek
    Department of Pediatrics and Center of Applied Genomics, 1st Faculty of Medicine, Charles University, Ke Karlovu 2, 128 08 Prague, Czech Republic
    Biochem J 392:625-32. 2005
    ..the assembly state of COX and SCO2 protein levels in various tissues of six patients with mutations in SCO2 and SURF1. SCO2 is a copper-binding protein presumably involved in formation of the Cu(A) centre of the COX2 subunit...
  72. pmc Post-transcriptional silencing and functional characterization of the Drosophila melanogaster homolog of human Surf1
    Mauro A Zordan
    CNR Institute of Biomedical Technology, University of Padova, Padova, Italy
    Genetics 172:229-41. 2006
    Mutations in Surf1, a human gene involved in the assembly of cytochrome c oxidase (COX), cause Leigh syndrome, the most common infantile mitochondrial encephalopathy, characterized by a specific COX deficiency...
  73. ncbi Hypertrichosis in patients with SURF1 mutations
    Elsebet Ostergaard
    John F Kennedy Institute, Glostrup, Denmark
    Am J Med Genet A 138:384-8. 2005
    We present three patients with SURF1 mutations. In addition to Leigh syndrome all patients had hypertrichosis, a clinical sign that is not usually associated with Leigh syndrome...
  74. ncbi Clinical and laboratory survey of 65 Chinese patients with Leigh syndrome
    Yan Ling Yang
    Department of Pediatrics, Peking University First Hospital, Beijing 100034, China
    Chin Med J (Engl) 119:373-7. 2006
    ..In the current study, we performed a retrospective study in 65 patients in order to investigate the clinical and genetic characteristics of Leigh syndrome in Chinese patients...
  75. ncbi Maternal segmental disomy in Leigh syndrome with cytochrome c oxidase deficiency caused by homozygous SURF1 mutation
    A K J van Riesen
    Department of Pediatrics and Pediatric Neurology, Georg August University Goettingen, Robert Koch Strasse 40, 37075 Goettingen, Germany
    Neuropediatrics 37:88-94. 2006
    ..Most of these LS (COX-) patients show mutations in SURF1 on chromosome 9 (9q34), which encodes a protein essential for the assembly of the COX complex...
  76. ncbi Increased longevity and refractoriness to Ca(2+)-dependent neurodegeneration in Surf1 knockout mice
    Carlotta Dell'agnello
    Unit of Molecular Neurogenetics, Pierfranco and Luisa Mariani Center for the Study of Children s Mitochondrial Disorders, National Neurological Institute C Besta, Milano, Italy
    Hum Mol Genet 16:431-44. 2007
    ..associated with cytochrome c oxidase (COX) deficiency is a mitochondrial disorder usually caused by mutations of SURF1, a gene encoding a putative COX assembly factor...
  77. ncbi Differentially expressed genes and morphological changes during lengthened immobilization in rat soleus muscle
    Ji Won Kim
    Department of Physical Therapy, College of Health Science, Baekseok University, Cheonan, South Korea
    Differentiation 75:147-57. 2007
    ..11 known genes, seven (Atp5g3, TOM22, INrf2, Slc25a4, Hdac6, Tpm1, and Sv2b) were up and three (Podxl, Myh1, and Surf1) were down-regulated following immobilization...
  78. ncbi Clinical and molecular survey in 124 Chinese patients with Leigh or Leigh-like syndrome
    Y Zhang
    Department of Pediatrics, Peking University First Hospital, Beijing, PR China
    J Inherit Metab Dis 30:265. 2007
    ..The T8993G point mutation was identified in one patient and T8993C in one other patient. SURF1 mutations associated with cytochrome-c oxidase deficiency were identified in 25 patients (20.2%)...
  79. ncbi Early developmental pathology due to cytochrome c oxidase deficiency is revealed by a new zebrafish model
    Katrina N Baden
    Institute of Molecular Biology, University of Oregon, Eugene, Oregon 97403 1229, USA
    J Biol Chem 282:34839-49. 2007
    ..COX deficiency was induced using morpholinos to reduce expression of CoxVa, a structural subunit, and Surf1, an assembly factor, both of which impaired COX assembly...
  80. pmc Light and electron microscopy characteristics of the muscle of patients with SURF1 gene mutations associated with Leigh disease
    M Pronicki
    Department of Pathology, The Children s Memorial Health Institute, Warsaw, Poland
    J Clin Pathol 61:460-6. 2008
    Leigh syndrome (LS) is characterised by almost identical brain changes despite considerable causal heterogeneity. SURF1 gene mutations are among the most frequent causes of LS...
  81. ncbi Transcriptional activators HAP/NF-Y rescue a cytochrome c oxidase defect in yeast and human cells
    Flavia Fontanesi
    Department of Neurology, The John T Macdonald Foundation Center for Medical Genetics, University of Miami Miller School of Medicine, Miami, FL, USA
    Hum Mol Genet 17:775-88. 2008
    ..Defects in COX assembly alter cellular respiration and produce severe human encephalomyopathies. Mutations in SURF1, a COX assembly factor of exact unknown function, produce Leigh's syndrome (LS), the most frequent cause of COX ..
  82. ncbi New findings in gene knockout, mutant and transgenic mice
    Andrzej Bartke
    Department of Internal Medicine and Physiology, Southern Illinois University School of Medicine, Springfield, IL 62794 9628, USA
    Exp Gerontol 43:11-4. 2008
    ..period July 2006 to July 2007: Core body temperature was shown to influence longevity in homeothermic animals; a Surf1 gene knockout extended lifespan in mice; separate studies using Little and Snell dwarf mice found stress ..
  83. doi Successful application of preimplantation genetic diagnosis for Leigh syndrome
    Evrim Unsal
    Gen Art Woman Health and Reproductive Biotechnology Center, Ufuk University, Ankara, Turkey
    Fertil Steril 90:2017.e11-3. 2008
    To perform preimplantation genetic diagnosis (PGD) for a SURF1 gene mutation of the Leigh syndrome to transfer unaffected or carrier embryo/embryos.
  84. ncbi [Mitochondrial diseases in children including Leigh syndrome--biochemical and molecular background]
    Ewa Pronicka
    Klinika Chorób Metabolicznych, Endokrynologii i Diabetologii, Instytut Pomnik Centrum Zdrowia Dziecka, Warszawa
    Postepy Biochem 54:161-8. 2008
    ..Special clinical phenotypes are associated with the mutations in SURF1 gene, in SCO2 gene and with mtDNA depletion syndromes...
  85. doi MtDNA mutations are a common cause of severe disease phenotypes in children with Leigh syndrome
    Karin Naess
    Department of Clinical Sciences, Karolinska University Hospital, S 141 86 Stockholm, Sweden
    Biochim Biophys Acta 1787:484-90. 2009
    ..sequencing the entire mitochondrial DNA (mtDNA), the mitochondrial DNA polymerase (POLGA) gene and the surfeit locus protein 1 (SURF1) gene...
  86. doi Heterogeneity of magnetic resonance imaging in Leigh syndrome with SURF1 gene 604G-->C mutation
    Sheng Xie
    Department of Radiology, Peking University First Hospital, Beijing, China
    Clin Imaging 33:1-6. 2009
    To identify the magnetic resonance (MR) features of a group of pediatric patients with Leigh syndrome (LS) caused by SURF1 gene 604G-->C mutation.
  87. doi Loss of function of Sco1 and its interaction with cytochrome c oxidase
    Lukas Stiburek
    Charles University, Prague 128 08, Czech Republic
    Am J Physiol Cell Physiol 296:C1218-26. 2009
    ..Human Surf1 is a CcO assembly factor with an important but poorly characterized role in CcO biogenesis...
  88. doi Mutation analysis of COX18 in 29 patients with isolated cytochrome c oxidase deficiency
    Sabrina Sacconi
    Centre de Référence des Maladies Neuromusculaires et CNRS UMR 6543, Faculte de Medecine, Universite de Nice, Nice, France
    J Hum Genet 54:419-21. 2009
    ..It is a genetically heterogeneous trait, and the most frequent genetic defects affect SURF1 and SCO2, two genes required for COX assembly...
  89. pmc Surf1, associated with Leigh syndrome in humans, is a heme-binding protein in bacterial oxidase biogenesis
    Freya A Bundschuh
    Institute of Biochemistry, Molecular Genetics, Goethe University, D 60438 Frankfurt am Main, Germany
    J Biol Chem 284:25735-41. 2009
    ..cytochrome c oxidase (COX) relies on a large number of assembly factors, among them the transmembrane protein Surf1. The loss of human Surf1 function is associated with Leigh syndrome, a fatal neurodegenerative disorder caused by ..
  90. pmc Mitochondrial disorders of the nuclear genome
    C Angelini
    Department of Neurosciences, University of Padova, Italy
    Acta Myol 28:16-23. 2009
    ..These latter disorders have mendelian inheritance...
  91. doi SURF1 missense mutations promote a mild Leigh phenotype
    D Piekutowska-Abramczuk
    Department of Medical Genetics Children s Memorial Health Institute, Warsaw, Poland
    Clin Genet 76:195-204. 2009
    b>SURF1 gene mutations are the most common cause of Leigh syndrome (LS), a rare progressive neurodegenerative disorder of infancy, characterized by symmetric necrotizing lesions and hypervascularity in the brainstem and basal ganglia, ..
  92. doi Analysis of SNPs with an effect on gene expression identifies UBE2L3 and BCL3 as potential new risk genes for Crohn's disease
    Karin Fransen
    Department of Genetics, University Medical Centre Groningen, University of Groningen, Groningen, The Netherlands
    Hum Mol Genet 19:3482-8. 2010
    ..UBE2L3 is also associated with other immune-mediated diseases. These results show that eQTL-based pre-selection for follow-up is a useful approach for identifying risk loci from a moderately sized GWAS...
  93. pmc A novel heme a insertion factor gene cotranscribes with the Thermus thermophilus cytochrome ba3 oxidase locus
    Carolin Werner
    Institute of Biochemistry, Biocenter N200, Goethe University, Max von Laue Strasse 9, D 60438 Frankfurt, Germany
    J Bacteriol 192:4712-9. 2010
    ..maturation have been described for this extreme thermophile, and in particular, no evidence for a canonical Surf1 homologue, required for heme a insertion, is available from genome sequence data...
  94. pmc Analysis of Leigh syndrome mutations in the yeast SURF1 homolog reveals a new member of the cytochrome oxidase assembly factor family
    Megan Bestwick
    University of Utah Health Sciences Center, Department of Medicine, Salt Lake City, Utah 84132, USA
    Mol Cell Biol 30:4480-91. 2010
    Three missense SURF1 mutations identified in patients with Leigh syndrome (LS) were evaluated in the yeast homolog Shy1 protein...
  95. doi LRPPRC mutations cause a phenotypically distinct form of Leigh syndrome with cytochrome c oxidase deficiency
    François Guillaume Debray
    Metabolic Unit, Department of Human Genetics, University of Liege, CHU Sart Tilman, Liege, Belgium
    J Med Genet 48:183-9. 2011
    ....
  96. doi Characterization of heme-binding properties of Paracoccus denitrificans Surf1 proteins
    Achim Hannappel
    Institute of Biochemistry, Goethe University Frankfurt, Frankfurt am Main, Germany
    FEBS J 278:1769-78. 2011
    ..b>Surf1, associated with heme a insertion and with Leigh syndrome if defective in humans, is present as two homologs in ..
  97. doi Mimicking a SURF1 allele reveals uncoupling of cytochrome c oxidase assembly from translational regulation in yeast
    Robert Reinhold
    Abteilung für Biochemie II, Universitat Gottingen, D 37073 Gottingen, Germany
    Hum Mol Genet 20:2379-93. 2011
    ..Leigh Syndrome describes a severe encephalomyopathy in infancy, frequently caused by mutations in SURF1. SURF1, termed Shy1 in Saccharomyces cerevisiae, is a conserved assembly factor for the terminal enzyme of the ..
  98. pmc In vivo correction of COX deficiency by activation of the AMPK/PGC-1α axis
    Carlo Viscomi
    Unit of Molecular Neurogenetics, The Foundation Carlo Besta Institute of Neurology IRCCS, Milan, Italy
    Cell Metab 14:80-90. 2011
    ..mouse models characterized by defective cytochrome c-oxidase (COX) activity: a knockout (KO) mouse for Surf1, a knockout/knockin mouse for Sco2, and a muscle-restricted KO mouse for Cox15...

Research Grants7

  1. Assembly of Redox Metal Centers in Cytochrome Oxidase
    Dennis R Winge; Fiscal Year: 2013
    ..The human Shy1 ortholog SURF1 is the most frequently mutated gene in Leigh Syndrome patients...
  2. Eric L Hegg; Fiscal Year: 2015
    ..heme A and its subsequent insertion into subunit 1 (Cox1) of CcO: heme O synthase (HOS), heme A synthase (HAS) and Surf1/Shy1. We hypothesize that HOS and HAS form distinct, large protein complexes that alter enzymatic activity...
  3. Transcriptional profiling in childhood diseases
    William Craigen; Fiscal Year: 2006
    ..Preliminary data from the investigator's laboratory using COX deficient fibroblasts with mutations in SURF1 demonstrates that cluster analysis identifies subsets of genes that are either up or down regulated in a ..
  4. 7th Intl Symposium-Neurobiology/Neuroendocrinology/Aging
    Andrzej Bartke; Fiscal Year: 2004
    ..We are also seeking support for the presenters of the Special Lecture and the Keynote Lecture who will be traveling to Bregenz from the United States. ..
  5. Aging:Mechanisms & Prevention:34th Annual Meeting of AGE
    Andrzej Bartke; Fiscal Year: 2005
    ..Financial assistance will be provided to those in training to encourage their participation in the meeting. ..
  6. Eighth & Ninth International Symposia on Neurobiology & Neuroendocrinology Aging
    Andrzej Bartke; Fiscal Year: 2007
    ..We are also seeking partial support for the expenses of invited speakers from the United States. [unreadable] [unreadable] [unreadable]..
  7. Transmission genetics of mammalian mitochondrial DNA
    Eric Shoubridge; Fiscal Year: 2008
    ..abstract_text> ..