New genes and pathomechanisms in mitochondrial disorders unraveled by NGS technologies

2016/03/08 by Andrea Legati, Aurelio Reyes, Alessia Nasca +11 · 25 citations
Biochemistry, Genetics and Molecular Biology · #Mitochondrial Function and Pathology #Metabolism and Genetic Disorders #ATP Synthase and ATPases Research

paper · doi:10.1016/j.bbabio.2016.02.022

Citations

• Mutations in FBXL4, Encoding a Mitochondrial Protein, Cause Early-Onset Mitochondrial Encephalomyopathy
• Mutations of the Mitochondrial-tRNA Modifier MTO1 Cause Hypertrophic Cardiomyopathy and Lactic Acidosis

Cited by

• Mitochondrial Cardiomyopathies. [europepmc]
• Next-generation sequencing in neuromuscular diseases. [europepmc]
• COA7 (C1orf163/RESA1) mutations associated with mitochondrial leukoencephalopathy and cytochrome c oxidase deficiency. [europepmc]
• Not only dominant, not only optic atrophy: expanding the clinical spectrum associated with OPA1 mutations. [europepmc]
• A novel de novo dominant mutation in ISCU associated with mitochondrial myopathy. [europepmc]
• Estimating the occurrence of primary ubiquinone deficiency by analysis of large-scale sequencing data. [europepmc]
• Compound heterozygous missense and deep intronic variants in NDUFAF6 unraveled by exome sequencing and mRNA analysis. [europepmc]
• KARS-related diseases: progressive leukoencephalopathy with brainstem and spinal cord calcifications as new phenotype and a review of literature. [europepmc]
• Mitochondrial and nuclear disease panel (Mito-aND-Panel): Combined sequencing of mitochondrial and nuclear DNA by a cost-effective and sensitive NGS-based method. [europepmc]
• Clinical and Biochemical Features in a Patient With Mitochondrial Fission Factor Gene Alteration. [europepmc]
• Recent advances in understanding the molecular genetic basis of mitochondrial disease. [europepmc]
• Mutations in ELAC2 associated with hypertrophic cardiomyopathy impair mitochondrial tRNA 3'-end processing. [europepmc]
• Knockdown of APOPT1/COA8 Causes Cytochrome c Oxidase Deficiency, Neuromuscular Impairment, and Reduced Resistance to Oxidative Stress in Drosophila melanogaster . [europepmc]
• Genes and Variants Underlying Human Congenital Lactic Acidosis-From Genetics to Personalized Treatment. [europepmc]
• Investigating the energy crisis in Alzheimer disease using transcriptome study. [europepmc]
• MitophAging: Mitophagy in Aging and Disease. [europepmc]
• Genetics of mitochondrial diseases: Identifying mutations to help diagnosis. [europepmc]
• Novel NDUFA13 Mutations Associated with OXPHOS Deficiency and Leigh Syndrome: A Second Family Report. [europepmc]
• Bi-allelic pathogenic variants in NDUFC2 cause early-onset Leigh syndrome and stalled biogenesis of complex I. [europepmc]
• The p53 Pathway and Metabolism: The Tree That Hides the Forest. [europepmc]
• Molecular Epidemiology of Mitochondrial Cardiomyopathy: A Search Among Mitochondrial and Nuclear Genes. [europepmc]
• Bi-allelic variants in OGDHL cause a neurodevelopmental spectrum disease featuring epilepsy, hearing loss, visual impairment, and ataxia. [europepmc]
• Prolyl endopeptidase-like is a (thio)esterase involved in mitochondrial respiratory chain function. [europepmc]
• Nanopore long-read next-generation sequencing for detection of mitochondrial DNA large-scale deletions. [europepmc]
• Systematic analysis of NDUFAF6 in complex I assembly and mitochondrial disease. [europepmc]