A Drosophila Mitochondrial Complex I Deficiency Phenotype Array
نویسندگان
چکیده
منابع مشابه
The Variability of the Harlequin Mouse Phenotype Resembles that of Human Mitochondrial-Complex I-Deficiency Syndromes
BACKGROUND Despite the considerable progress made in understanding the molecular bases of mitochondrial diseases, no effective treatments have been developed to date. Faithful animal models would be extremely helpful for designing such treatments. We showed previously that the Harlequin mouse phenotype was due to a specific mitochondrial complex I deficiency resulting from the loss of the Apopt...
متن کاملPhotoperiod Affects the Phenotype of Mitochondrial Complex I Mutants1[OPEN]
Pierre Pétriacq, Linda de Bont, Lucie Genestout, Jingfang Hao, Constance Laureau, Igor Florez-Sarasa, Touhami Rzigui, Guillaume Queval, Françoise Gilard, Caroline Mauve, Florence Guérard, Marlène Lamothe-Sibold, Jessica Marion, Chantal Fresneau, Spencer Brown, Antoine Danon, Anja Krieger-Liszkay, Richard Berthomé, Miquel Ribas-Carbo, Guillaume Tcherkez, Gabriel Cornic, Bernard Pineau, Bertrand ...
متن کاملPhotoperiod Affects the Phenotype of Mitochondrial Complex I Mutants.
Plant mutants for genes encoding subunits of mitochondrial complex I (CI; NADH:ubiquinone oxidoreductase), the first enzyme of the respiratory chain, display various phenotypes depending on growth conditions. Here, we examined the impact of photoperiod, a major environmental factor controlling plant development, on two Arabidopsis (Arabidopsis thaliana) CI mutants: a new insertion mutant interr...
متن کاملMolecular diagnosis in mitochondrial complex I deficiency using exome sequencing.
BACKGROUND Next generation sequencing has become the core technology for gene discovery in rare inherited disorders. However, the interpretation of the numerous sequence variants identified remains challenging. We assessed the application of exome sequencing for diagnostics in complex I deficiency, a disease with vast genetic heterogeneity. METHODS Ten unrelated individuals with complex I def...
متن کاملMitochondrial complex I deficiency: from organelle dysfunction to clinical disease.
Mitochondria are essential for cellular bioenergetics by way of energy production in the form of ATP through the process of oxidative phosphorylation. This crucial task is executed by five multi-protein complexes of which mitochondrial NADH:ubiquinone oxidoreductase or complex I is the largest and most complicated one. During recent years, mutations in nuclear genes encoding structural subunits...
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ژورنال
عنوان ژورنال: Frontiers in Genetics
سال: 2019
ISSN: 1664-8021
DOI: 10.3389/fgene.2019.00245