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La ricerca find articoli where soggetti phrase all words 'FRATAXIN' sort by level,fasc_key/DESCEND, pagina_ini_num/ASCEND ha restituito 78 riferimenti
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    1. De Freitas, JM; Meneghini, R
      Iron and its sensitive balance in the cell

      MUTATION RESEARCH-FUNDAMENTAL AND MOLECULAR MECHANISMS OF MUTAGENESIS
    2. Aisen, P; Enns, C; Wessling-Resnick, M
      Chemistry and biology of eukaryotic iron metabolism

      INTERNATIONAL JOURNAL OF BIOCHEMISTRY & CELL BIOLOGY
    3. Becker, E; Richardson, DR
      Frataxin: its role in iron metabolism and the pathogenesis of Friedreich'sataxia

      INTERNATIONAL JOURNAL OF BIOCHEMISTRY & CELL BIOLOGY
    4. Palau, F
      Friedreich's ataxia and frataxin: Molecular genetics, evolution and pathogenesis (Review)

      INTERNATIONAL JOURNAL OF MOLECULAR MEDICINE
    5. Puccio, H; Simon, D; Cossee, M; Criqui-Filipe, P; Tiziano, F; Melki, J; Hindelang, C; Matyas, R; Rustin, P; Koenig, M
      Mouse models for Friedreich ataxia exhibit cardiomyopathy, sensory nerve defect and Fe-S enzyme deficiency followed by intramitochondrial iron deposits

      NATURE GENETICS
    6. Huynen, MA; Snel, B; Bork, P; Gibson, TJ
      The phylogenetic distribution of frataxin indicates a role in iron-sulfur cluster protein assembly

      HUMAN MOLECULAR GENETICS
    7. Chantrel-Groussard, K; Geromel, V; Puccio, H; Koenig, M; Munnich, A; Rotig, A; Rustin, P
      Disabled early recruitment of antioxidant defenses in Friedreich's ataxia

      HUMAN MOLECULAR GENETICS
    8. Tan, G; Chen, LS; Lonnerdal, B; Gellera, C; Taroni, FA; Cortopassi, GA
      Frataxin expression rescues mitochondrial dysfunctions in FRDA cells

      HUMAN MOLECULAR GENETICS
    9. Bit-Avragim, N; Perrot, A; Schols, L; Hardt, C; Kreuz, FR; Zuhlke, C; Bubel, S; Laccone, F; Vogel, HP; Dietz, R; Osterziel, KJ
      The GAA repeat expansion in intron 1 of the frataxin gene is related to the severity of cardiac manifestation in patients with Friedreich's ataxia

      JOURNAL OF MOLECULAR MEDICINE-JMM
    10. Richardson, DR; Mouralian, C; Ponka, P; Becker, E
      Development of potential iron chelators for the treatment of Friedreich's ataxia: ligands that mobilize mitochondrial iron

      BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE
    11. Pandolfo, M
      Molecular basis of Friedreich ataxia

      MOVEMENT DISORDERS
    12. Maueler, W; Bassili, G; Hardt, C; Keyl, HG; Epplen, JT
      A complex containing at least one zinc dependent HeLa nuclear protein binds to the intronic (gaa)(n) block of the frataxin gene

      GENE
    13. Lodi, R; Hart, PE; Rajagopalan, B; Taylor, DJ; Crilley, JG; Bradley, JL; Blamire, AM; Manners, D; Styles, P; Schapira, AHV; Cooper, JM
      Antioxidant treatment improves in vivo cardiac and skeletal muscle bioenergetics in patients with Friedreich's ataxia

      ANNALS OF NEUROLOGY
    14. Scarano, V; de Cristofaro, T; De Michele, G; Salvatore, E; De Biase, I; Monticelli, A; Filla, A; Cocozza, S
      Serum transferrin receptor levels in Friedreich's and other degenerative ataxias

      NEUROLOGY
    15. Justice, CM; Den, ZN; Nguyen, SV; Stoneking, M; Deininger, PL; Batzer, MA; Keats, BJB
      Phylogenetic analysis of the friedreich ataxia GAA trinucleotide repeat

      JOURNAL OF MOLECULAR EVOLUTION
    16. Lutz, T; Westermann, B; Neupert, W; Herrmann, JM
      The mitochondrial proteins Ssq1 and Jac1 are required for the assembly of iron sulfur clusters in mitochondria

      JOURNAL OF MOLECULAR BIOLOGY
    17. Li, J; Saxena, S; Pain, D; Dancis, A
      Adrenodoxin reductase homolog (Arh1p) of yeast mitochondria required for iron homeostasis

      JOURNAL OF BIOLOGICAL CHEMISTRY
    18. Jiralerspong, S; Ge, B; Hudson, TJ; Pandolfo, M
      Manganese superoxide dismutase induction by iron is impaired in Friedreichataxia cells

      FEBS LETTERS
    19. Chen, OS; Kaplan, J
      YFH1-mediated iron homeostasis is independent of mitochondrial respiration

      FEBS LETTERS
    20. Patel, PI; Isaya, G
      Friedreich ataxia: From GAA triplet-repeat expansion to frataxin deficiency

      AMERICAN JOURNAL OF HUMAN GENETICS
    21. Hellenbroich, Y; Schwinger, E; Zuhlke, C
      Limited somatic mosaicism for Friedreich's ataxia GAA triplet repeat expansions identified by small pool PCR in blood leukocytes

      ACTA NEUROLOGICA SCANDINAVICA
    22. Givre, SJ; Wall, M; Kardon, RH
      Visual loss and recovery in a patient with Friedreich ataxia

      JOURNAL OF NEURO-OPHTHALMOLOGY
    23. Lill, R; Kispal, G
      Maturation of cellular Fe-S proteins: an essential function of mitochondria

      TRENDS IN BIOCHEMICAL SCIENCES
    24. Cossee, M; Puccio, H; Gansmuller, A; Koutnikova, H; Dierich, A; LeMeur, M; Fischbeck, K; Dolle, P; Koenig, M
      Inactivation of the Friedreich ataxia mouse gene leads to early embryonic lethality without iron accumulation

      HUMAN MOLECULAR GENETICS
    25. Culetto, E; Sattelle, DB
      A role for Caenorhabditis elegans in understanding the function and interactions of human disease genes

      HUMAN MOLECULAR GENETICS
    26. Puccio, H; Koenig, M
      Recent advances in the molecular pathogenesis of Friedreich ataxia

      HUMAN MOLECULAR GENETICS
    27. Bradley, JL; Blake, JC; Chamberlain, S; Thomas, PK; Cooper, JM; Schapira, AHV
      Clinical, biochemical and molecular genetic correlations in Friedreich's ataxia

      HUMAN MOLECULAR GENETICS
    28. Vorgerd, M; Schols, L; Hardt, C; Ristow, M; Epplen, JT; Zange, J
      Mitochondrial impairment of human muscle in Friedreich ataxia in vivo

      NEUROMUSCULAR DISORDERS
    29. Gordon, N
      Friedreich's ataxia and iron metabolism

      BRAIN & DEVELOPMENT
    30. Canizares, J; Blanca, JM; Navarro, JA; Monros, E; Palau, F; Molto, MD
      dfh is a Drosophila homolog of the Friedreich's ataxia disease gene

      GENE
    31. Wilson, RB; Lynch, DR; Farmer, JM; Brooks, DG; Fischbeck, KH
      Increased serum transferrin receptor concentrations in Friedreich ataxia

      ANNALS OF NEUROLOGY
    32. De Castro, M; Garcia-Planells, J; Monros, E; Canizares, J; Vazquez-Manrique, R; Vilchez, JJ; Urtasun, M; Lucas, M; Navarro, G; Izquierdo, G; Molto, MD; Palau, F
      Genotype and phenotype analysis of Friedreich's ataxia compound heterozygous patients

      HUMAN GENETICS
    33. Grabczyk, E; Usdin, K
      Alleviating transcript insufficiency caused by Friedreich's ataxia tripletrepeats

      NUCLEIC ACIDS RESEARCH
    34. Grabczyk, E; Usdin, K
      The GAA center dot TTC triplet repeat expanded in Friedreich's ataxia impedes transcription elongation by T7 RNA polymerase in a length and supercoildependent manner

      NUCLEIC ACIDS RESEARCH
    35. Voisine, C; Schilke, B; Ohlson, M; Beinert, H; Marszalek, J; Craig, EA
      Role of the mitochondrial Hsp70s, Ssc1 and Ssq1, in the maturation of Yfh1

      MOLECULAR AND CELLULAR BIOLOGY
    36. Sheth, S; Brittenham, GM
      Genetic disorders affecting proteins of iron metabolism: Clinical implications

      ANNUAL REVIEW OF MEDICINE
    37. Sherer, T; Greenamyre, JT
      A therapeutic target and biomarker in Friedreich's ataxia

      NEUROLOGY
    38. De Michele, G; Filla, A; Cavalcanti, F; Tammaro, A; Monticelli, A; Pianese, L; Di Salle, F; Perretti, A; Santoro, L; Caruso, G; Cocozza, S
      Atypical Friedreich ataxia phenotype associated with a novel missense mutation in the X25 gene

      NEUROLOGY
    39. Cavadini, P; Adamec, J; Taroni, F; Gakh, O; Isaya, G
      Two-step processing of human frataxin by mitochondrial processing peptidase - Precursor and intermediate forms are cleaved at different rates

      JOURNAL OF BIOLOGICAL CHEMISTRY
    40. Chen, OS; Kaplan, J
      CCC1 suppresses mitochondrial damage in the yeast model of Friedreich's ataxia by limiting mitochondrial iron accumulation

      JOURNAL OF BIOLOGICAL CHEMISTRY
    41. Taketani, S; Adachi, Y; Nakahashi, Y
      Regulation of the expression of human ferrochelatase by intracellular ironlevels

      EUROPEAN JOURNAL OF BIOCHEMISTRY
    42. Geissler, A; Krimmer, T; Schonfisch, B; Meijer, M; Rassow, J
      Biogenesis of the yeast frataxin homolog Yfh1p - Tim44-dependent transfer to mtHsp70 facilitates folding of newly imported proteins in mitochondria

      EUROPEAN JOURNAL OF BIOCHEMISTRY
    43. Hebinck, J; Hardt, C; Schols, L; Vorgerd, M; Briedigkeit, L; Kahn, CR; Ristow, M
      Heterozygous expansion of the GAA tract of the X25/frataxin gene is associated with insulin resistance in humans

      DIABETES
    44. Dutka, DP; Donnelly, JE; Palka, P; Lange, A; Nunez, DJR; Nihoyannopoulos, P
      Echocardiographic characterization of cardiomyopathy in Friedreich's ataxia with tissue Doppler echocardiographically derived myocardial velocity gradients

      CIRCULATION
    45. Muhlenhoff, U; Lill, R
      Biogenesis of iron-sulfur proteins in eukaryotes: a novel task of mitochondria that is inherited from bacteria

      BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS
    46. Bidichandani, SI; Garcia, CA; Patel, PI; Dimachkie, MM
      Very late-onset Friedreich ataxia despite large GAA triplet repeat expansions

      ARCHIVES OF NEUROLOGY
    47. McGovern, MC; Stewart, M; Morrison, PJ; Webb, D; Hawkins, S
      Early onset of Friedreich's ataxia in a compound heterozygote

      ARCHIVES OF DISEASE IN CHILDHOOD
    48. von Kleist-Retzow, JC; Chantrel-Groussard, K; Rotig, A; Munnich, R; Rustin, P
      Current diagnosis and treatment

      DEUTSCHE MEDIZINISCHE WOCHENSCHRIFT
    49. Craig, EA; Voisine, C; Schilke, B
      Mitochondrial iron metabolism in the yeast Saccharomyces cerevisiae

      BIOLOGICAL CHEMISTRY
    50. Allikmets, R; Raskind, WH; Hutchinson, A; Schueck, ND; Dean, M; Koeller, DM
      Mutation of a putative mitochondrial iron transporter gene (ABC7) in X-linked sideroblastic anemia and ataxia (XLSA/A)

      HUMAN MOLECULAR GENETICS
    51. Wong, A; Yang, J; Cavadini, P; Gellera, C; Lonnerdal, B; Taroni, F; Cortepassi, G
      The Friedreich's ataxia mutation confers cellular sensitivity to oxidant stress which is rescued by chelators of iron and calcium and inhibitors of apoptosis

      HUMAN MOLECULAR GENETICS
    52. Rotig, A; Munnich, A; Rustin, P
      Friedrich's ataxia and mitochondria: Putting together a puzzle

      ARCHIVES DE PEDIATRIE
    53. Rustin, P; von Kleist-Retzow, JC; Chantrel-Groussard, K; Sidi, D; Munnich, A; Rotig, A
      Friedreich's ataxia: a therapic hope.

      M S-MEDECINE SCIENCES
    54. Waldvogel, D; van Gelderen, P; Hallett, M
      Increased iron in the dentate nucleus of patients with Friedreich's ataxia

      ANNALS OF NEUROLOGY
    55. Delatycki, MB; Camakaris, J; Brooks, H; Evans-Whipp, T; Thorburn, DR; Williamson, R; Forrest, SM
      Direct evidence that mitochondrial iron accumulation occurs in Friedreich ataxia

      ANNALS OF NEUROLOGY
    56. Cossee, M; Durr, A; Schmitt, M; Dahl, N; Trouillas, P; Allinson, P; Kostrzewa, M; Nivelon-Chevallier, A; Gustavson, KH; Kohlschutter, A; Muller, U; Mandel, JL; Brice, A; Koenig, M; Cavalcanti, F; Tammaro, A; De Michele, G; Filla, A; Cocozza, S; Labuda, M; Montermini, L; Poirier, J; Pandolfo, M
      Friedreich's ataxia: Point mutations and clinical presentation of compoundheterozygotes

      ANNALS OF NEUROLOGY
    57. Coppola, G; De Michele, G; Cavalcanti, F; Pianese, L; Perretti, A; Santoro, L; Vita, G; Toscano, A; Amboni, M; Grimaldi, G; Salvatore, E; Caruso, G; Filla, A
      Why do some Friedreich's ataxia patients retain tendon reflexes? A clinical, neurophysiological and molecular study

      JOURNAL OF NEUROLOGY
    58. Pandolfo, M
      Friedreich's ataxia: Clinical aspects and pathogenesis

      SEMINARS IN NEUROLOGY
    59. Alikasifoglu, M; Topaloglu, H; Tuncbilek, E; Ceviz, M; Anar, B; Demir, E; Ozme, S
      Clinical and genetic correlate in childhood onset Friedreich ataxia

      NEUROPEDIATRICS
    60. Delatycki, MB; Paris, DBBP; Gardner, RJM; Nicholson, GA; Nassif, N; Storey, E; MacMillan, JC; Collins, V; Williamson, R; Forrest, SM
      Clinical and genetic study of Friedreich ataxia in an Australian population

      AMERICAN JOURNAL OF MEDICAL GENETICS
    61. Rustin, P; von Kleist-Retzow, JC; Chantrel-Groussard, K; Sidi, D; Munnich, A; Rotig, A
      Effect of idebenone on cardiomyopathy in Friedreich's ataxia: a preliminary study

      LANCET
    62. Illarioshkin, SN; Druzina, EB; Bagieva, GK; Markova, ED; Miklina, NI; Ovchinnikov, IV; Ivanova-Smolenskaya, IA
      Friedreich's disease: a real spectrum of clinical manifestations in terms of direct DNA-diagnosis

      ZHURNAL NEVROPATOLOGII I PSIKHIATRII IMENI S S KORSAKOVA
    63. Kaplan, J
      Friedreich's ataxia is a mitochondrial disorder

      PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
    64. Lodi, R; Cooper, JM; Bradley, JL; Manners, D; Styles, P; Taylor, DJ; Schapira, AHV
      Deficit of in vivo mitochondrial ATP production in patients with Friedreich ataxia

      PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
    65. Senbongi, H; Ling, F; Shibata, T
      A mutation in a mitochondrial ABC transporter results in mitochondrial dysfunction through oxidative damage of mitochondrial DNA

      MOLECULAR AND GENERAL GENETICS
    66. Li, DS; Ohshima, K; Jiralerspong, S; Bojanowski, MW; Pandolfo, M
      Knock-out of the cyaY gene in Escherichia coli does not affect cellular iron content and sensitivity to oxidants

      FEBS LETTERS
    67. Pandolfo, M
      Molecular pathogenesis of Friedreich ataxia

      ARCHIVES OF NEUROLOGY
    68. Knight, SAB; Kim, R; Pain, D; Dancis, A
      Insights from model systems - The yeast connection to Friedreich ataxia

      AMERICAN JOURNAL OF HUMAN GENETICS
    69. Klopstock, T; Chahrokh-Zadeh, S; Holinski-Feder, E; Meindl, A; Gasser, T; Pongratz, D; Muller-Felber, W
      Markedly different course of Friedreich's ataxia in sib pairs with similarGAA repeat expansions in the frataxin gene

      ACTA NEUROPATHOLOGICA
    70. WICK MJ; HAGEN VLM; DAY JW; GOMEZ CM; MCGLENNEN RC
      LONG-RANGE POLYMERASE CHAIN REACTION-BASED DIAGNOSIS OF FRIEDREICH ATAXIA IN THE CLINICAL MOLECULAR DIAGNOSTICS LABORATORY

      Molecular diagnosis
    71. DEMICHELE G; CAVALCANTI F; CRISCUOLO C; PIANESE L; MONTICELLI A; FILLA A; COCOZZA S
      PARENTAL GENDER, AGE AT BIRTH AND EXPANSION LENGTH INFLUENCE GAA REPEAT INTERGENERATIONAL INSTABILITY IN THE X25 GENE - PEDIGREE STUDIES AND ANALYSIS OF SPERM FROM PATIENTS WITH FRIEDREICHS ATAXIA

      Human molecular genetics (Print)
    72. HANNA MG; DAVIS MB; SWEENEY MG; NOURSADEGHI M; ELLIS CJ; ELLIOT P; WOOD NW; MARSDEN CD
      GENERALIZED CHOREA IN 2 PATIENTS HARBORING THE FRIEDREICHS ATAXIA GENE TRINUCLEOTIDE REPEAT EXPANSION

      Movement disorders
    73. PANDOLFO M; MONTERMINI L
      PRENATAL-DIAGNOSIS OF FRIEDREICH ATAXIA

      Prenatal diagnosis
    74. Lonnqvist, T; Paetau, A; Nikali, K; von Boguslawski, K; Pihko, H
      Infantile onset spinocerebellar ataxia with sensory neuropathy (IOSCA): neuropathological features

      JOURNAL OF THE NEUROLOGICAL SCIENCES
    75. KOEPPEN AH
      THE HEREDITARY ATAXIAS

      Journal of neuropathology and experimental neurology
    76. DELATYCKI MB; PARIS D; GARDNER RJM; FORSHAW K; NICHOLSON GA; NASSIF N; WILLIAMSON R; FORREST SM
      SPERM DNA ANALYSIS IN A FRIEDREICH ATAXIA PREMUTATION CARRIER SUGGESTS BOTH MEIOTIC AND MITOTIC EXPANSION IN THE FRDA GENE

      Journal of Medical Genetics
    77. STRAIN J; LORENZ CR; BODE J; GARLAND S; SMOLEN GA; TALL DT; VICKERY LE; CULOTTA VC
      SUPPRESSORS OF SUPEROXIDE-DISMUTASE (SOD1) DEFICIENCY IN SACCHAROMYCES-CEREVISIAE - IDENTIFICATION OF PROTEINS PREDICTED TO MEDIATE IRON-SULFUR CLUSTER ASSEMBLY

      The Journal of biological chemistry
    78. SCHAPIRA AHV
      INBORN AND INDUCED DEFECTS OF MITOCHONDRIA

      Archives of neurology


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Documento generato il 26/05/20 alle ore 12:41:42