The fasting test in paediatrics: application to the diagnosis of pathological hypo-and hyperketotic states
…, NB Specola, A Vassault, A Lombes… - European journal of …, 1990 - Springer
A 24-h fasting test was performed in 48 control children, in 9 hypoketotic patients with
inherited defects of fatty acid oxidation and in 2 hyperketotic patients with inherited defects of …
inherited defects of fatty acid oxidation and in 2 hyperketotic patients with inherited defects of …
Mitochondrial DNA deletions in progressive external ophthalmoplegia and Kearns-Sayre syndrome
…, S DiMauro, M Zeviani, A Lombes… - … England Journal of …, 1989 - Mass Medical Soc
We investigated the correlations of deletions of mitochondrial DNA in skeletal muscle with
clinical manifestations of mitochondrial myopathies, a group of disorders defined either by …
clinical manifestations of mitochondrial myopathies, a group of disorders defined either by …
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) Clinical, biochemical, and genetic features of an autosomal recessive mitochondrial disorder
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): Clinical, biochemical, and
genetic features of an autosomal reces Page 1 1988;70:496-512. 39. Suzuki DA, May JG, …
genetic features of an autosomal reces Page 1 1988;70:496-512. 39. Suzuki DA, May JG, …
[HTML][HTML] Genetic diagnosis of Mendelian disorders via RNA sequencing
…, B Funalot, A Donati, V Tiranti, A Lombes… - Nature …, 2017 - nature.com
Across a variety of Mendelian disorders, ∼50–75% of patients do not receive a genetic
diagnosis by exome sequencing indicating disease-causing variants in non-coding regions. …
diagnosis by exome sequencing indicating disease-causing variants in non-coding regions. …
Mitochondrial fusion in human cells is efficient, requires the inner membrane potential, and is mediated by mitofusins
F Legros, A Lombès, P Frachon… - Molecular biology of the …, 2002 - Am Soc Cell Biol
Mitochondrial fusion remains a largely unknown process despite its observation by live
microscopy and the identification of few implicated proteins. Using green and red fluorescent …
microscopy and the identification of few implicated proteins. Using green and red fluorescent …
Membrane topology and mitochondrial targeting of mitofusins, ubiquitous mammalian homologs of the transmembrane GTPase Fzo
…, F Legros, D Chateau, A Lombès - Journal of cell …, 2002 - journals.biologists.com
Two human Fzo-homologs, mitofusins Mfn1 and Mfn2, are shown by RT-PCR and western
blot to be ubiquitous mitochondrial proteins. Protease digestion experiments reveal that Mfn2 …
blot to be ubiquitous mitochondrial proteins. Protease digestion experiments reveal that Mfn2 …
Organization and dynamics of human mitochondrial DNA
…, F Malka, P Frachon, A Lombès… - Journal of cell …, 2004 - journals.biologists.com
Heteroplasmic mutations of mitochondrial DNA (mtDNA) are an important source of human
diseases. The mechanisms governing transmission, segregation and complementation of …
diseases. The mechanisms governing transmission, segregation and complementation of …
[PDF][PDF] CABC1 gene mutations cause ubiquinone deficiency with cerebellar ataxia and seizures
…, V Serre, D Chretien, D Schlemmer, A Lombes… - The American Journal of …, 2008 - cell.com
Coenzyme Q 10 (CoQ 10 ) plays a pivotal role in oxidative phosphorylation (OXPHOS) in
that it distributes electrons between the various dehydrogenases and the cytochrome …
that it distributes electrons between the various dehydrogenases and the cytochrome …
The mitochondrial complex I inhibitor annonacin is toxic to mesencephalic dopaminergic neurons by impairment of energy metabolism
…, P Champy, A Jousset, F Medja, A Lombes… - Neuroscience, 2003 - Elsevier
The death of dopaminergic neurons induced by systemic administration of mitochondrial
respiratory chain complex I inhibitors such as 1-methyl-4-phenylpyridinium (MPP + ; given as …
respiratory chain complex I inhibitors such as 1-methyl-4-phenylpyridinium (MPP + ; given as …
Ageing muscle: clonal expansions of mitochondrial DNA point mutations and deletions cause focal impairment of mitochondrial function
…, D Sternberg, AR Moslemi, P Blondy, A Lombès… - Neuromuscular …, 2002 - Elsevier
Although mitochondrial DNA deletions have been shown to accumulate in cytochrome c
oxidase deficient muscle fibres of ageing muscle, this has not been demonstrated for point …
oxidase deficient muscle fibres of ageing muscle, this has not been demonstrated for point …