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Last Updated: 10/31/2025

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Found 293 publications

A novel mitochondrial ATP8 gene mutation in a patient with apical hypertrophic cardiomyopathy and neuropathy.

A novel mitochondrial ATP8 gene mutation in a patient with apical hypertrophic cardiomyopathy and neuropathy.

Journal: BMJ case reports
Published: August 08, 2025

Dominant negative ATP5F1A variants disrupt oxidative phosphorylation causing neurological disorders.

Dominant negative ATP5F1A variants disrupt oxidative phosphorylation causing neurological disorders.

Journal: medRxiv : the preprint server for health sciences
Published: July 17, 2025

Downregulation of LATS1/2 Drives Endothelial Senescence-Associated Stemness (SAS) and Atherothrombotic Lesion Formation.

Downregulation of LATS1/2 Drives Endothelial Senescence-Associated Stemness (SAS) and Atherothrombotic Lesion Formation.

Journal: bioRxiv : the preprint server for biology
Published: July 16, 2025

Mitochondrial Complex V Deficiency Caused by a Homozygous Splice Variant in ATP5PO.

Mitochondrial Complex V Deficiency Caused by a Homozygous Splice Variant in ATP5PO.

Journal: American journal of medical genetics. Part A
Published: June 06, 2025

ATP5F1A deficiency causes developmental delay and motor dysfunction in humans and zebrafish.

ATP5F1A deficiency causes developmental delay and motor dysfunction in humans and zebrafish.

Journal: Journal of translational medicine
Published: April 01, 2025

Dominant negative ATP5F1A variants disrupt oxidative phosphorylation causing neurological disorders.

Dominant negative ATP5F1A variants disrupt oxidative phosphorylation causing neurological disorders.

Journal: EMBO molecular medicine
Published: March 26, 2025

Natural History of Patients With Mitochondrial ATPase Deficiency Due to Pathogenic Variants of MT-ATP6 and MT-ATP8.

Natural History of Patients With Mitochondrial ATPase Deficiency Due to Pathogenic Variants of MT-ATP6 and MT-ATP8.

Journal: Neurology
Published: March 20, 2025

Case Report: Unusual Neurological Features of Leigh Syndrome due to m.8993T>G Pathogenic Variant in the MT-ATP6 Gene.

Case Report: Unusual Neurological Features of Leigh Syndrome due to m.8993T>G Pathogenic Variant in the MT-ATP6 Gene.

Journal: American journal of medical genetics. Part A
Published: February 10, 2025

Small-scale protocols to characterize mitochondrial Complex V activity and assembly in peripheral blood mononuclear cells.

Small-scale protocols to characterize mitochondrial Complex V activity and assembly in peripheral blood mononuclear cells.

Journal: PloS one
Published: January 17, 2025

The fourth family in the world with a novel variant in the ATP5MK gene: four siblings with complex V (ATP synthase) deficiency.

The fourth family in the world with a novel variant in the ATP5MK gene: four siblings with complex V (ATP synthase) deficiency.

Journal: Neurogenetics
Published: December 16, 2024

Reprogramming of two induced pluripotent stem cell clones from a patient with a novel MT-ATP6/8 mutation (m.8570 T > C).

Reprogramming of two induced pluripotent stem cell clones from a patient with a novel MT-ATP6/8 mutation (m.8570 T > C).

Journal: Stem cell research
Published: October 21, 2024

Variability of Clinical Phenotypes Caused by Isolated Defects of Mitochondrial ATP Synthase.

Variability of Clinical Phenotypes Caused by Isolated Defects of Mitochondrial ATP Synthase.

Journal: Physiological research
Published: July 17, 2024
Showing 1-12 of 293

Last Updated: 10/31/2025