Výsledky vyhledávání - "Ginette Mandon"

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Autor: Georges Stepien, Renée Dumoulin, Annie Bernard, Sandrine Boissier, Ginette Mandon, Jean-Marc Collombet, Bénédicte Mousson, Hélène Faure-Vigny

Publikováno v: Molecular and Cellular Biochemistry. 168:73-85

The expression of several mitochondrial and nuclear genes involved in ATP production was examined in cells cultured from muscle biopsies of patients harboring mitochondrial pathologies. The transcript patterns in muscle cells from the patients affect

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::46f172cce9839e2ffd2c1f885f6075a0
https://doi.org/10.1023/a:1006830807107

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Amniotic fluid for screening of lysosomal storage diseases presenting in utero (mainly as non-immune hydrops fetalis)

Autor: Annie Bernard, Irène Maire, Ginette Mandon, Roseline Froissart, Monique Piraud

Publikováno v: Clinica Chimica Acta. 248:143-155

Seventy amniotic fluids (AF) were sampled because of abnormal ultrasound findings (mainly non-immune hydrops fetalis (54 cases) or of the presence of vacuolated lymphocytes in fetal blood (3 cases)). They were analysed by a procedure involving AF sup

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bc455594892040e2e1c2c284c3a5d44a
https://doi.org/10.1016/0009-8981(95)06250-5

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PRENATAL DIAGNOSIS OF MITOCHONDRIAL FATTY ACID OXIDATION DEFECTS

Autor: Christine Vianey-Saban, Mohamed A. Nada, Charles R. Roe, Monique Mathieu, Rebecca S. Wappner, Julie A. Mcglynn, Jia-Huan Ding, Martin G. Bialer, Ginette Mandon

Publikováno v: Prenatal Diagnosis. 16:117-124

Amniocytes isolated from two pregnancies at risk for fatty acid oxidation defects were incubated with stable isotopically labelled palmitate, in the presence of L-carnitine, to probe that pathway. The labelled acylcarnitines were then quantitated usi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::d3f87c7fd70f6c9c62c52de1c4b5271f
https://doi.org/10.1002/(sici)1097-0223(199602)16:2<117::aid-pd820>3.0.co

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Kinetic properties of mutant deoxyguanosine kinase in a case of reversible hepatic mtDNA depletion

Autor: Bénédicte Mousson de Camaret, Martine Mayençon, Ginette Mandon, Marie-Therese Zabot, Maïté Chassagne, Jan-Willem Taanman, Sylvie Padet, Dominique Bozon, Alain Lachaux, Pascale Clerc-Renaud

DGUOK [dG (deoxyguanosine) kinase] is one of the two mitochondrial deoxynucleoside salvage pathway enzymes involved in precursor synthesis for mtDNA (mitochondrial DNA) replication. DGUOK is responsible for the initial rate-limiting phosphorylation o

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c5b82030ce2ad18c971b3db93ba9e188
https://europepmc.org/articles/PMC1798436/

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Quantification of OXPHOS gene transcripts during muscle cell differentiation in patients with mitochondrial myopathies

Autor: Stéphane Giraud, Christelle Bonod-Bidaud, Bénédicte Mousson, Georges Stepien, Ginette Mandon

Publikováno v: Experimental cell research. 246(1)

The transcript levels of nuclear and mitochondrial genes involved in oxidative phosphorylation were quantified in human myoblasts and myotubes cultured from biopsies of patients harboring either heteroplasmic point mutation or deletion of mitochondri

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::834ade69704f07be8e40a4283c0dfd2d
https://pubmed.ncbi.nlm.nih.gov/9882518

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Recurrent myoglobinuria due to carnitine palmitoyltransferase II deficiency: expression of the molecular phenotype in cultured muscle cells

Autor: Franco Taroni, Jean Villard, Jean Marc Collombet, Ginette Mandon, Bénédicte Mousson, Andréas Fischer

Publikováno v: Journal of the neurological sciences. 136(1-2)

Carnitine palmitoyltransferase II deficiency (CPT II) is an autosomal recessive disorder and the most frequent cause of hereditary myoglobinuria. We report the case of a young man who presented a severe fever-induced episode of rhabdomyolysis and myo

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3c055f1a88640312eead286eb66239fe
https://pubmed.ncbi.nlm.nih.gov/8815169

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