Search Results - (Author, Cooperation:T. Bourgeron)

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  1. 1
    Staff View
    Publication Date:
    2014-05-30
    Publisher:
    Nature Publishing Group (NPG)
    Print ISSN:
    0028-0836
    Electronic ISSN:
    1476-4687
    Topics:
    Biology
    Chemistry and Pharmacology
    Medicine
    Natural Sciences in General
    Physics
    Keywords:
    Animals ; Antipsychotic Agents/pharmacology ; Behavior, Animal/drug effects/physiology ; Dopamine/*metabolism ; Electrical Synapses/genetics/ultrastructure ; Female ; Genotype ; Humans ; Male ; Membrane Proteins/*genetics/*metabolism ; Mice ; Nerve Tissue Proteins/*genetics/*metabolism ; Polymorphism, Single Nucleotide ; *Signal Transduction ; Synaptic Transmission/*genetics ; gamma-Aminobutyric Acid/*metabolism
    Published by:
    Latest Papers from Table of Contents or Articles in Press
  2. 2
    Staff View
    Publication Date:
    2012-06-16
    Publisher:
    Nature Publishing Group (NPG)
    Print ISSN:
    0028-0836
    Electronic ISSN:
    1476-4687
    Topics:
    Biology
    Chemistry and Pharmacology
    Medicine
    Natural Sciences in General
    Physics
    Keywords:
    Adaptor Proteins, Signal Transducing/*genetics ; Animals ; Autistic Disorder/*genetics/pathology ; Behavior, Animal/*physiology ; Dendritic Spines/genetics ; Female ; Male ; Mice ; Mice, Inbred C57BL ; Nerve Tissue Proteins/*genetics ; Psychomotor Agitation/*genetics/pathology ; Receptors, Ionotropic Glutamate/metabolism ; Synapses/metabolism ; Up-Regulation ; Vocalization, Animal/physiology
    Published by:
    Latest Papers from Table of Contents or Articles in Press
  3. 3
    Staff View
    ISSN:
    0006-291X
    Keywords:
    [abr] BSA; bovine serum albumin ; [abr] COX; cytochromec reductase ; [abr] Cyt; cytochrome ; [abr] NCCR; NADH cytochrome c reductase ; [abr] SCCR; succinate cytochrome c reductase
    Source:
    Elsevier Journal Backfiles on ScienceDirect 1907 - 2002
    Topics:
    Biology
    Chemistry and Pharmacology
    Physics
    Type of Medium:
    Electronic Resource
    URL:
    Articles: DFG German National Licenses
  4. 4
    Staff View
    ISSN:
    0006-291X
    Keywords:
    [abr] BLCL; B lymphoblastoid cell lines ; [abr] BSA; bovine serum albumin ; [abr] CAP; chloramphenicol ; [abr] EBV; Epstein-Barr virus ; [abr] EDTA; ethylenediaminetetraacetic acid ; [abr] EGTA; ethyleneglycoltetraacetic acid ; [abr] MOPS; morpholinopropanesulphonic acid ; [abr] PMSF; phenylmethane-sulphonyl fluoride ; [abr] Prot; protein ; [abr] SDS; sodium dodecyl sulfate ; [abr] Tris; 2-amino-2(hydroxymethyl)1, 3, propanediol
    Source:
    Elsevier Journal Backfiles on ScienceDirect 1907 - 2002
    Topics:
    Biology
    Chemistry and Pharmacology
    Physics
    Type of Medium:
    Electronic Resource
    URL:
    Articles: DFG German National Licenses
  5. 5
    Staff View
    ISSN:
    0885-4505
    Source:
    Elsevier Journal Backfiles on ScienceDirect 1907 - 2002
    Topics:
    Medicine
    Type of Medium:
    Electronic Resource
    URL:
    Articles: DFG German National Licenses
  6. 6
    Staff View
    ISSN:
    0009-8981
    Keywords:
    Human mitochondria ; Polarography ; Respiratory chain activities ; Spectrophotometry
    Source:
    Elsevier Journal Backfiles on ScienceDirect 1907 - 2002
    Topics:
    Medicine
    Type of Medium:
    Electronic Resource
    URL:
    Articles: DFG German National Licenses
  7. 7
    Staff View
    ISSN:
    0009-8981
    Keywords:
    Cell respiration ; Human mitochondria ; Mitochondria isolation ; Polarography ; Respiratory chain defects ; Spectrophotometry
    Source:
    Elsevier Journal Backfiles on ScienceDirect 1907 - 2002
    Topics:
    Medicine
    Type of Medium:
    Electronic Resource
    URL:
    Articles: DFG German National Licenses
  8. 8
    Staff View
    ISSN:
    0006-291X
    Keywords:
    [abr] BSA; bovine serum albumin ; [abr] COX; cytochromec reductase ; [abr] Cyt; cytochrome ; [abr] NCCR; NADH cytochrome c reductase ; [abr] SCCR; succinate cytochrome c reductase
    Source:
    Elsevier Journal Backfiles on ScienceDirect 1907 - 2002
    Topics:
    Biology
    Chemistry and Pharmacology
    Physics
    Type of Medium:
    Electronic Resource
    URL:
    Articles: DFG German National Licenses
  9. 9
    Staff View
    ISSN:
    0006-291X
    Keywords:
    [abr] BLCL; B lymphoblastoid cell lines ; [abr] BSA; bovine serum albumin ; [abr] CAP; chloramphenicol ; [abr] EBV; Epstein-Barr virus ; [abr] EDTA; ethylenediaminetetraacetic acid ; [abr] EGTA; ethyleneglycoltetraacetic acid ; [abr] MOPS; morpholinopropanesulphonic acid ; [abr] PMSF; phenylmethane-sulphonyl fluoride ; [abr] Prot; protein ; [abr] SDS; sodium dodecyl sulfate ; [abr] Tris; 2-amino-2(hydroxymethyl)1, 3, propanediol
    Source:
    Elsevier Journal Backfiles on ScienceDirect 1907 - 2002
    Topics:
    Biology
    Chemistry and Pharmacology
    Physics
    Type of Medium:
    Electronic Resource
    URL:
    Articles: DFG German National Licenses
  10. 10
    Staff View
    ISSN:
    1432-1076
    Source:
    Springer Online Journal Archives 1860-2000
    Topics:
    Medicine
    Type of Medium:
    Electronic Resource
    URL:
    Articles: DFG German National Licenses
  11. 11
    Staff View
    ISSN:
    1573-2665
    Source:
    Springer Online Journal Archives 1860-2000
    Topics:
    Medicine
    Notes:
    Summary Respiratory-chain deficiencies have long been regarded as neuromuscular diseases. In fact, oxidative phosphorylation, i.e. adenosine triphosphate (ATP) synthesis by the respiratory chain, does not occur only in the neuromuscular system. Indeed, a number of non-neuromuscular organs and tissues are dependent upon mitochondrial energy supply. For this reason, a respiratory-chain deficiency can theoretically give rise to any symptom, in any organ or tissue, at any age and with any mode of inheritance, owing to the twofold genetic origin of respiratory enzymes (nuclear DNA and mitochondrial DNA, mtDNA). In recent years, it has become increasingly clear that genetic defects of oxidative phosphorylation account for a large variety of clinical symptoms in childhood. Among 100 patients with respiratory-chain deficiencies identified in our centre, 56% presented with a non-neuromuscular symptom and 44% were referred for a neuromuscular problem. It appears that the diagnosis of a respiratory-chain deficiency is difficult initially when only one symptom is present. In contrast, this diagnosis is easier to consider when two seemingly unrelated symptoms are observed
    Type of Medium:
    Electronic Resource
    URL:
    Articles: DFG German National Licenses
  12. 12
    Staff View
    ISSN:
    1573-2665
    Source:
    Springer Online Journal Archives 1860-2000
    Topics:
    Medicine
    Notes:
    Conclusion Hitherto, cardiomyopathy has never been reported as the presenting symptom of a mitochondrial disorder. Although it appears premature to conclude as to the prevalence of defects of oxidative phosphorylation in hypertrophic cardiomyopathies, this study demonstrates that such defects should be regarded as a potential cause of idiopathic hypertrophic cardiomyopathy in early infancy. While an abnormal redox status in plasma and widespread multitissue defects support the diagnosis of mitochondrial cardiomyopathy, normal results in such investigations do not preclude the possibility of heart-specific respiratory chain defect and should prompt one to carry outin vivo investigations on endomyocardial biopsies.
    Type of Medium:
    Electronic Resource
    URL:
    Articles: DFG German National Licenses