Approved Drugs Dissolve Mutant Polymerase Aggregates and Restore Motor Function in Mice
Two already approved drugs, diltiazem and sulbactam, dissolved mutant POLGA aggregates and restored mitochondrial DNA replication and motor function in ...
Tag: mitochondrial disease
New Mouse Model Reveals How RMND1 Mutations Disrupt Mitochondrial Energy Production
The first knock-in mouse carrying the recurrent human RMND1 p.(Asn238Ser) mutation recapitulates severe multisystem mitochondrial disease, revealing widespread OXPHOS defects ...
Skin Biopsy Outperforms Invasive Surgery in Global Mitochondrial Disease Study
An international study shows that functional testing on cells grown from a small skin biopsy can diagnose mitochondrial disease, often ...
National Study Reveals Survival and Causes of Death in Mitochondrial Disease
A nationwide English cohort study of 1,107 genetically confirmed patients shows that survival in primary mitochondrial disease is far better ...
When Stroke-Like Brain Lesions Mask a Treatable Genetic Ataxia
A new Journal of Neurology case report describes recurrent posterior stroke-like brain lesions that were ultimately revealed to be manifestations ...
Single Mutation, Many Faces: Study Maps Mitochondrial Disease in Chinese Children
A study of eleven Han Chinese children with the m.3243 A>G mitochondrial DNA mutation reveals striking phenotypic variability, a mean ...
Vitamin-Derived Molecule Shows First Signs of Treating Mitochondrial DNA Disease in Humans
A four-week trial of nicotinamide riboside in eight patients with mitochondrial DNA disease shows the first human evidence of molecular ...
Six Experts Map the Future of Rare Metabolic Disease Research
Six leading researchers outline the opportunities, challenges and emerging priorities for advancing research and therapy development in rare metabolic diseases.
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Mothers who receive childcare support from maternal grandparents show more parental warmth, finds NTU Singapore study
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University of Seville Breaks 120-Year-Old Mystery, Revises a Key Einstein Concept
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Bee body mass, pathogens and local climate influence heat tolerance
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Researchers record first-ever images and data of a shark experiencing a boat strike
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Groundbreaking Clinical Trial Reveals Lubiprostone Enhances Kidney Function
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