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Results: 3
The m.13051G>A mitochondrial DNA mutation results in variable neurology and activated mitophagy.
Eszter Dombi, Alan Diot, Karl Morten, Janet Carver, Tiffany Lodge, Carl Fratter, Yi Shiau Ng, Chunyan Liao, Rebecca Muir, Emma L Blakely, Iain Hargreaves, Mazhor Al-Dosary, Gopa Sarkar, Simon J Hickman, Susan M Downes, Sandeep Jayawant, Patrick Yu-Wai-Man, Robert W Taylor, Joanna Poulton
Jun 28, 2018
acidosis Lactic Adolescent Adult Aged Aged 80 and over antioxidants Cells Cultured Child Child Preschool DNA Mitochondrial Female FIBROBLASTS Humans Infant Infant Newborn Leigh Disease Male Microtubule-Associated Proteins Middle Aged Mitochondrial Dynamics Mitochondrial Membrane Transport Proteins Mitochondrial Precursor Protein Import Complex Proteins mitophagy Mutation Neurology Ubiquinone Young Adult
Molecular genetic investigations identify new clinical phenotypes associated with BCS1L-related mitochondrial disease.
Monika Oláhová, Camilla Ceccatelli Berti, Jack J Collier, Charlotte L Alston, Elisabeth Jameson, Simon A Jones, Noel Edwards, Langping He, Patrick F Chinnery, Rita Horvath, Paola Goffrini, Robert W Taylor, John A Sayer
Sep 04, 2019
BCS1L encodes a homolog of the Saccharomyces cerevisiae bcs1 protein, which has a known role in the assembly of Complex III of the mitochondrial respiratory chain. Phenotypes reported in association with pathogenic BCS1L...
ATPases Associated with Diverse Cellular Activities acidosis Lactic Adult Amino Acid Sequence Cholestasis Electron Transport Complex III Female Fetal Growth Retardation FIBROBLASTS Hemosiderosis Humans Infant Male metabolism Inborn Errors Mitochondrial Diseases Muscle Skeletal Mutation Phenotype Renal Aminoacidurias
Molecular and neurological features of MELAS syndrome in paediatric patients
Lydia M Seed, Andrew Dean, Deepa Krishnakumar, Poe Phyu, Rita Horvath, Pooja Devi Harijan
Apr 27, 2022