Výsledky vyhledávání - "Mitochondrial respiratory chain defects"

Akademický článek

Pyruvate carboxylase deficiency: An underestimated cause of lactic acidosis

Autor: F. Habarou, A. Brassier, M. Rio, D. Chrétien, S. Monnot, V. Barbier, R. Barouki, J.P. Bonnefont, N. Boddaert, B. Chadefaux-Vekemans, L. Le Moyec, J. Bastin, C. Ottolenghi, P. de Lonlay

Publikováno v: Molecular Genetics and Metabolism Reports, Vol 2, Iss C, Pp 25-31 (2015)

Pyruvate carboxylase (PC) is a biotin-containing mitochondrial enzyme that catalyzes the conversion of pyruvate to oxaloacetate, thereby being involved in gluconeogenesis and in energy production through replenishment of the tricarboxylic acid (TCA)

Externí odkaz: https://doaj.org/article/6948171860ed4d01b7b2deed66d05db1

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Nonmitochondrial Metabolic Cardioskeletal Myopathies

Autor: A. El-Gharbawy, J. Vockley

Inborn errors of metabolism (IEM) account for approximately 5% of all pediatric cardiomyopathies. Nineteen percent of childhood cardiomyopathy has been reported to have a metabolic cause, which is even higher in infants under 1 year of age (47%). The

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::697ed1bc8157f505c24b93abd3daf676
https://doi.org/10.1016/b978-0-12-800040-3.00014-5

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Mitochondrial respiratory chain defects in skin fibroblasts from patients with Dravet syndrome

Autor: Davide Mei, Stefano Doccini, Federico Sicca, Maria Chiara Meschini, Renzo Guerrini, Filippo M. Santorelli

Publikováno v: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology. 36(11)

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cfc4a7c4cba1c248cb08250e374bf197
https://pubmed.ncbi.nlm.nih.gov/26169758

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Pyruvate carboxylase deficiency An underestimated cause of lactic acidosis

Autor: Jean-Paul Bonnefont, Marlène Rio, P. de Lonlay, Dominique Chretien, Florence Habarou, Sophie Monnot, Valérie Barbier, L. Le Moyec, Nathalie Boddaert, Jean Bastin, Anaïs Brassier, Robert Barouki, Bernadette Chadefaux-Vekemans, Chris Ottolenghi

Publikováno v: Molecular Genetics and Metabolism
Molecular Genetics and Metabolism, Elsevier, 2015, 2, pp.25-31. ⟨10.1016/j.ymgmr.2014.11.001⟩
Molecular Genetics and Metabolism, 2015, 2, pp.25-31. ⟨10.1016/j.ymgmr.2014.11.001⟩
Molecular Genetics and Metabolism Reports, Vol 2, Iss C, Pp 25-31 (2015)
Molecular Genetics and Metabolism Reports

International audience; Pyruvate carboxylase (PC) is a biotin-containing mitochondrial enzyme that catalyzes the conversion of pyruvate to oxaloacetate, thereby being involved in gluconeogenesis and in energy production through replenishment of the t

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a1228a55f54117f8fab7e2f125dfc793
https://hal-univ-evry.archives-ouvertes.fr/hal-02489932/document

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Biochemical Investigations and Immunoblot Analyses of Two Unrelated Patients with an Isolated Deficiency in Complex II of the Mitochondrial Respiratory Chain

Autor: Arnold Munnich, Béatrice Parfait, Cécile Marsac, Pierre Rustin, Robert W. Taylor, G. Ponsot, Mark A. Birch-Machin

Publikováno v: Biochemical and Biophysical Research Communications. 220:57-62

Mitochondrial respiratory chain defects involving complex II are comparatively rare. We report the biochemical findings in two unrelated patients who both have an isolated complex II deficiency (40–50% of control values). Western blot analysis of m

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::49e3e747fac22582ae30bf76a0646c97
https://doi.org/10.1006/bbrc.1996.0356

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3-methylglutaconic aciduria type 4 manifesting as Leigh syndrome in 2 siblings

Autor: Nuria Muñoz Jareño, Celia Pérez-Cerdá Silvestre, J Campos-Castelló, Magdalena Ugarte Pérez, Daniel Martín Fernández-Mayoralas, Begoña Merinero Cortés

Publikováno v: Journal of child neurology. 22(2)

The authors report the case of a pair of siblings with 3-methylglutaconic aciduria type 4 manifesting as Leigh syndrome. Disease progression was monitored from birth until the present. Both patients fulfilled the diagnostic criteria for Leigh syndrom

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d38fcf11c0bf68094be84da43e64cceb
https://pubmed.ncbi.nlm.nih.gov/17621487

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Mitochondrial respiratory-chain defects presenting as nonspecific features in children

Autor: Chang Y. Tsao, Jerome A. Rusin, Jerry R. Mendell, Warren D. Lo, Mark Luquette

Publikováno v: Journal of child neurology. 15(7)

Patients with mitochondrial respiratory-chain defects frequently exhibit lactic acidosis, ragged red fibers in skeletal muscle samples, and abnormal enzyme assays for the respiratory-chain complex. However, ragged red fibers and lactic acidosis are n

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::00d40e483a261ded501189f42695a43e
https://pubmed.ncbi.nlm.nih.gov/10921514

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Akademický článek

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Report

Pyruvate carboxylase deficiency: An underestimated cause of lactic acidosis.

Autor: Habarou F; Centre de Référence des Maladies Héréditaires du Métabolisme, Hôpital Necker, APHP, Paris, France.; INSERM U1124, Université Paris Descartes, Paris, France.; Service de Biochimie Métabolomique et Protéomique, Hôpital Necker, APHP, Paris, France., Brassier A; Centre de Référence des Maladies Héréditaires du Métabolisme, Hôpital Necker, APHP, Paris, France.; Université Paris Descartes, Paris, France., Rio M; Département de Génétique, Hôpital Necker, APHP, Paris, France., Chrétien D; INSERM U781, Paris, France., Monnot S; Département de Génétique, Hôpital Necker, APHP, Paris, France.; IHU Imagine, UMR1163, France., Barbier V; Centre de Référence des Maladies Héréditaires du Métabolisme, Hôpital Necker, APHP, Paris, France., Barouki R; Centre de Référence des Maladies Héréditaires du Métabolisme, Hôpital Necker, APHP, Paris, France.; INSERM U1124, Université Paris Descartes, Paris, France.; Service de Biochimie Métabolomique et Protéomique, Hôpital Necker, APHP, Paris, France., Bonnefont JP; Département de Génétique, Hôpital Necker, APHP, Paris, France.; INSERM U781, Paris, France., Boddaert N; Service de Radiologie Pédiatrique, Hôpital Necker, APHP, Paris, France., Chadefaux-Vekemans B; Centre de Référence des Maladies Héréditaires du Métabolisme, Hôpital Necker, APHP, Paris, France.; INSERM U1124, Université Paris Descartes, Paris, France.; Service de Biochimie Métabolomique et Protéomique, Hôpital Necker, APHP, Paris, France., Le Moyec L; INSERM U902, Université d'Evry Val d'Essonne, INSERM UBIAE U902, Boulevard François Miterrand, 91025 Evry, France., Bastin J; INSERM U1124, Université Paris Descartes, Paris, France., Ottolenghi C; Centre de Référence des Maladies Héréditaires du Métabolisme, Hôpital Necker, APHP, Paris, France.; INSERM U1124, Université Paris Descartes, Paris, France.; Service de Biochimie Métabolomique et Protéomique, Hôpital Necker, APHP, Paris, France., de Lonlay P; Centre de Référence des Maladies Héréditaires du Métabolisme, Hôpital Necker, APHP, Paris, France.; Université Paris Descartes, Paris, France.; INSERM U781, Paris, France.

Publikováno v: Molecular genetics and metabolism reports [Mol Genet Metab Rep] 2014 Nov 28; Vol. 2, pp. 25-31. Date of Electronic Publication: 2014 Nov 28 (Print Publication: 2015).

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