Search Results - (Author, Cooperation:T. Bourgeron)
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1T. Karayannis ; E. Au ; J. C. Patel ; I. Kruglikov ; S. Markx ; R. Delorme ; D. Heron ; D. Salomon ; J. Glessner ; S. Restituito ; A. Gordon ; L. Rodriguez-Murillo ; N. C. Roy ; J. A. Gogos ; B. Rudy ; M. E. Rice ; M. Karayiorgou ; H. Hakonarson ; B. Keren ; G. Huguet ; T. Bourgeron ; C. Hoeffer ; R. W. Tsien ; E. Peles ; G. Fishell
Nature Publishing Group (NPG)
Published 2014Staff ViewPublication Date: 2014-05-30Publisher: Nature Publishing Group (NPG)Print ISSN: 0028-0836Electronic ISSN: 1476-4687Topics: BiologyChemistry and PharmacologyMedicineNatural Sciences in GeneralPhysicsKeywords: 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/*metabolismPublished by: -
2M. J. Schmeisser ; E. Ey ; S. Wegener ; J. Bockmann ; A. V. Stempel ; A. Kuebler ; A. L. Janssen ; P. T. Udvardi ; E. Shiban ; C. Spilker ; D. Balschun ; B. V. Skryabin ; S. Dieck ; K. H. Smalla ; D. Montag ; C. S. Leblond ; P. Faure ; N. Torquet ; A. M. Le Sourd ; R. Toro ; A. M. Grabrucker ; S. A. Shoichet ; D. Schmitz ; M. R. Kreutz ; T. Bourgeron ; E. D. Gundelfinger ; T. M. Boeckers
Nature Publishing Group (NPG)
Published 2012Staff ViewPublication Date: 2012-06-16Publisher: Nature Publishing Group (NPG)Print ISSN: 0028-0836Electronic ISSN: 1476-4687Topics: BiologyChemistry and PharmacologyMedicineNatural Sciences in GeneralPhysicsKeywords: 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/physiologyPublished by: -
3Staff View
ISSN: 0006-291XKeywords: [abr] BSA; bovine serum albumin ; [abr] COX; cytochromec reductase ; [abr] Cyt; cytochrome ; [abr] NCCR; NADH cytochrome c reductase ; [abr] SCCR; succinate cytochrome c reductaseSource: Elsevier Journal Backfiles on ScienceDirect 1907 - 2002Topics: BiologyChemistry and PharmacologyPhysicsType of Medium: Electronic ResourceURL: -
4Staff View
ISSN: 0006-291XKeywords: [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, propanediolSource: Elsevier Journal Backfiles on ScienceDirect 1907 - 2002Topics: BiologyChemistry and PharmacologyPhysicsType of Medium: Electronic ResourceURL: -
5Rustin, P. ; Chretien, D. ; Bourgeron, T. ; Lebidois, J. ; Sidi, D. ; Rotig, A. ; Munnich, A.
Amsterdam : ElsevierStaff ViewISSN: 0885-4505Source: Elsevier Journal Backfiles on ScienceDirect 1907 - 2002Topics: MedicineType of Medium: Electronic ResourceURL: -
6Chretien, D. ; Rustin, P. ; Bourgeron, T. ; Rotig, A. ; Saudubray, J.M. ; Munnich, A.
Amsterdam : ElsevierStaff ViewISSN: 0009-8981Keywords: Human mitochondria ; Polarography ; Respiratory chain activities ; SpectrophotometrySource: Elsevier Journal Backfiles on ScienceDirect 1907 - 2002Topics: MedicineType of Medium: Electronic ResourceURL: -
7Rustin, P. ; Chretien, D. ; Bourgeron, T. ; Gerard, B. ; Rotig, A. ; Saudubray, J.M. ; Munnich, A.
Amsterdam : ElsevierStaff ViewISSN: 0009-8981Keywords: Cell respiration ; Human mitochondria ; Mitochondria isolation ; Polarography ; Respiratory chain defects ; SpectrophotometrySource: Elsevier Journal Backfiles on ScienceDirect 1907 - 2002Topics: MedicineType of Medium: Electronic ResourceURL: -
8Staff View
ISSN: 0006-291XKeywords: [abr] BSA; bovine serum albumin ; [abr] COX; cytochromec reductase ; [abr] Cyt; cytochrome ; [abr] NCCR; NADH cytochrome c reductase ; [abr] SCCR; succinate cytochrome c reductaseSource: Elsevier Journal Backfiles on ScienceDirect 1907 - 2002Topics: BiologyChemistry and PharmacologyPhysicsType of Medium: Electronic ResourceURL: -
9Staff View
ISSN: 0006-291XKeywords: [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, propanediolSource: Elsevier Journal Backfiles on ScienceDirect 1907 - 2002Topics: BiologyChemistry and PharmacologyPhysicsType of Medium: Electronic ResourceURL: -
10Gérard, B. ; Bourgeron, T. ; Chretien, D. ; Rötig, A. ; Munnich, A. ; Rustin, P.
Springer
Published 1993Staff ViewISSN: 1432-1076Source: Springer Online Journal Archives 1860-2000Topics: MedicineType of Medium: Electronic ResourceURL: -
11Munnich, A. ; Rötig, A. ; Chretien, D. ; Cormier, V. ; Bourgeron, T. ; Bonnefont, J. -P. ; Saudubray, J. -M. ; Rustin, P.
Springer
Published 1996Staff ViewISSN: 1573-2665Source: Springer Online Journal Archives 1860-2000Topics: MedicineNotes: 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 observedType of Medium: Electronic ResourceURL: -
12Rustin, P. ; Lebidois, J. ; Chretien, D. ; Bourgeron, T. ; Piechaud, J. -F. ; Rötig, A. ; Sidi, D. ; Munnich, A.
Springer
Published 1993Staff ViewISSN: 1573-2665Source: Springer Online Journal Archives 1860-2000Topics: MedicineNotes: 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 ResourceURL: