Severe X-linked mitochondrial encephalomyopathy associated with a mutation in apoptosis-inducing factor.
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Cowchock syndrome is associated with a mutation in apoptosis-inducing factorMitochondrial cytochrome c oxidase deficiencyPARP1 gene knock-out increases resistance to retinal degeneration without affecting retinal function.Key Targets for Multi-Target Ligands Designed to Combat NeurodegenerationVariant non ketotic hyperglycinemia is caused by mutations in LIAS, BOLA3 and the novel gene GLRX5Tissue-specific splicing of an Ndufs6 gene-trap insertion generates a mitochondrial complex I deficiency-specific cardiomyopathyProteomic and metabolomic analyses of mitochondrial complex I-deficient mouse model generated by spontaneous B2 short interspersed nuclear element (SINE) insertion into NADH dehydrogenase (ubiquinone) Fe-S protein 4 (Ndufs4) geneA slowly progressive mitochondrial encephalomyopathy widens the spectrum of AIFM1 disorders.Mutations in apoptosis-inducing factor cause X-linked recessive auditory neuropathy spectrum disorderDisease-Causing SDHAF1 Mutations Impair Transfer of Fe-S Clusters to SDHBMitochondrial Complex III Deficiency Caused by TTC19 Defects: Report of a Novel Mutation and Review of Literature.Neurological Disorders Associated with Striatal Lesions: Classification and Diagnostic Approach.Neuroglobin gene therapy prevents optic atrophy and preserves durably visual function in Harlequin mice.Mouse studies to shape clinical trials for mitochondrial diseases: high fat diet in Harlequin miceThe optic nerve: a "mito-window" on mitochondrial neurodegenerationNew perspective in diagnostics of mitochondrial disorders: two years' experience with whole-exome sequencing at a national paediatric centre.Apoptosis-inducing factor: structure, function, and redox regulation.Maternally inherited mitochondrial DNA disease in consanguineous families.Apoptosis-inducing Factor (AIF) and Its Family Member Protein, AMID, Are Rotenone-sensitive NADH:Ubiquinone Oxidoreductases (NDH-2).Mitochondrial Diseases Part II: Mouse models of OXPHOS deficiencies caused by defects in regulatory factors and other components required for mitochondrial function.Modeling mitochondrial dysfunctions in the brain: from mice to men.Non-apoptotic functions of apoptosis-regulatory proteins.Role of apoptosis-inducing factor, proline dehydrogenase, and NADPH oxidase in apoptosis and oxidative stressBasal metabolic state governs AIF-dependent growth support in pancreatic cancer cells.Metabolic epistasis among apoptosis-inducing factor and the mitochondrial import factor CHCHD4.A role for apoptosis-inducing factor in T cell development.AIF inhibits tumor metastasis by protecting PTEN from oxidation.Loss of apoptosis-inducing factor critically affects MIA40 function.The enzymatic activity of apoptosis-inducing factor supports energy metabolism benefiting the growth and invasiveness of advanced prostate cancer cells.AIF, reactive oxygen species, and neurodegeneration: a "complex" problemMitochondria Biogenesis and Bioenergetics Gene Profiles in Isogenic Prostate Cells with Different Malignant Phenotypes.Role of apoptosis-inducing factor (Aif) in the T cell lineage.AIFM1 mutation presenting with fatal encephalomyopathy and mitochondrial disease in an infant.Mitochondrial disorders caused by mutations in respiratory chain assembly factors.Mechanisms of mitochondrial diseases.Mitochondrial disease and epilepsy.Mitochondrial epilepsy in pediatric and adult patients.Mitochondrial disease associated with complex I (NADH-CoQ oxidoreductase) deficiency.A novel AIFM1 mutation expands the phenotype to an infantile motor neuron disease.Leigh syndrome: One disorder, more than 75 monogenic causes.
P2860
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P2860
Severe X-linked mitochondrial encephalomyopathy associated with a mutation in apoptosis-inducing factor.
description
2010 nî lūn-bûn
@nan
2010 թուականի Ապրիլին հրատարակուած գիտական յօդուած
@hyw
2010 թվականի ապրիլին հրատարակված գիտական հոդված
@hy
2010年の論文
@ja
2010年論文
@yue
2010年論文
@zh-hant
2010年論文
@zh-hk
2010年論文
@zh-mo
2010年論文
@zh-tw
2010年论文
@wuu
name
Severe X-linked mitochondrial ...... in apoptosis-inducing factor.
@ast
Severe X-linked mitochondrial ...... in apoptosis-inducing factor.
@en
type
label
Severe X-linked mitochondrial ...... in apoptosis-inducing factor.
@ast
Severe X-linked mitochondrial ...... in apoptosis-inducing factor.
@en
prefLabel
Severe X-linked mitochondrial ...... in apoptosis-inducing factor.
@ast
Severe X-linked mitochondrial ...... in apoptosis-inducing factor.
@en
P2860
P50
P1476
Severe X-linked mitochondrial ...... in apoptosis-inducing factor.
@en
P2093
Irina Sevrioukova
Pio D'Adamo
P2860
P304
P356
10.1016/J.AJHG.2010.03.002
P407
P50
P577
2010-04-01T00:00:00Z