[HTML][HTML] Beyond the exome: what's next in diagnostic testing for Mendelian conditions
Despite advances in clinical genetic testing, including the introduction of exome sequencing
(ES), more than 50% of individuals with a suspected Mendelian condition lack a precise …
(ES), more than 50% of individuals with a suspected Mendelian condition lack a precise …
The genetics of mitochondrial disease: dissecting mitochondrial pathology using multi‐omic pipelines
Mitochondria play essential roles in numerous metabolic pathways including the synthesis
of adenosine triphosphate through oxidative phosphorylation. Clinically, mitochondrial …
of adenosine triphosphate through oxidative phosphorylation. Clinically, mitochondrial …
Integrated multi-omics for rapid rare disease diagnosis on a national scale
Critically ill infants and children with rare diseases need equitable access to rapid and
accurate diagnosis to direct clinical management. Over 2 years, the Acute Care Genomics …
accurate diagnosis to direct clinical management. Over 2 years, the Acute Care Genomics …
Clinical implementation of RNA sequencing for Mendelian disease diagnostics
Background Lack of functional evidence hampers variant interpretation, leaving a large
proportion of individuals with a suspected Mendelian disorder without genetic diagnosis …
proportion of individuals with a suspected Mendelian disorder without genetic diagnosis …
ATAD3A has a scaffolding role regulating mitochondria inner membrane structure and protein assembly
T Arguello, S Peralta, H Antonicka, G Gaidosh, F Diaz… - Cell reports, 2021 - cell.com
Summary The ATPase Family AAA Domain Containing 3A (ATAD3A), is a mitochondrial
inner membrane protein conserved in metazoans. ATAD3A has been associated with …
inner membrane protein conserved in metazoans. ATAD3A has been associated with …
Enhanced cGAS-STING–dependent interferon signaling associated with mutations in ATAD3A
A Lepelley, E Della Mina… - Journal of Experimental …, 2021 - rupress.org
Mitochondrial DNA (mtDNA) has been suggested to drive immune system activation, but the
induction of interferon signaling by mtDNA has not been demonstrated in a Mendelian …
induction of interferon signaling by mtDNA has not been demonstrated in a Mendelian …
Genetic basis of mitochondrial diseases
Mitochondrial disorders are monogenic disorders characterized by a defect in oxidative
phosphorylation and caused by pathogenic variants in one of over 340 different genes. The …
phosphorylation and caused by pathogenic variants in one of over 340 different genes. The …
Mitochondrial biology and dysfunction in secondary mitochondrial disease
Mitochondrial diseases are a broad, genetically heterogeneous class of metabolic disorders
characterized by deficits in oxidative phosphorylation (OXPHOS). Primary mitochondrial …
characterized by deficits in oxidative phosphorylation (OXPHOS). Primary mitochondrial …
Bioinformatics Analysis of Next Generation Sequencing Data Identifies Molecular Biomarkers Associated With Type 2 Diabetes Mellitus
V Alur, V Raju, B Vastrad, C Vastrad… - Clinical Medicine …, 2023 - journals.sagepub.com
Background: Type 2 diabetes mellitus (T2DM) is the most common metabolic disorder. The
aim of the present investigation was to identify gene signature specific to T2DM. Methods …
aim of the present investigation was to identify gene signature specific to T2DM. Methods …
Emerging links between control of mitochondrial protein ATAD3A and cancer
Spanning from the mitochondria's outer surface to the inner membrane, the nuclear-
encoded protein ATAD3A maintains vital roles in regulating mitochondrial dynamics …
encoded protein ATAD3A maintains vital roles in regulating mitochondrial dynamics …