Filters

Term Search
You can select from the dropdown list OR enter your own terms to refine the search.

Last Updated: 01/07/2026

Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 298 publications

Clinical utility of the ATP hydrolysis assay for the diagnosis of complex V deficiency in cultured skin fibroblasts.

Clinical utility of the ATP hydrolysis assay for the diagnosis of complex V deficiency in cultured skin fibroblasts.

Journal: Molecular genetics and metabolism
Published: August 20, 2025

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

Nicotinamide nucleotide transhydrogenase dysfunction transcriptionally impacts mitochondrial β-oxidation and neuromuscular junction in M. Gastrocnemius of 24-day-old mice.

Nicotinamide nucleotide transhydrogenase dysfunction transcriptionally impacts mitochondrial β-oxidation and neuromuscular junction in M. Gastrocnemius of 24-day-old mice.

Journal: International journal of biological macromolecules
Published: July 09, 2025

Mitochondrial proteomics reveals the impact of Estrogen in enhancing energy metabolism of patient-derived fibroblast-like synoviocytes in rheumatoid arthritis.

Mitochondrial proteomics reveals the impact of Estrogen in enhancing energy metabolism of patient-derived fibroblast-like synoviocytes in rheumatoid arthritis.

Journal: Inflammation research : official journal of the European Histamine Research Society ... [et al.]
Published: June 25, 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

Hypocitrullinemia as an Early Diagnostic Biomarker for MT-ATP6 Mitochondrial Diseases.

Hypocitrullinemia as an Early Diagnostic Biomarker for MT-ATP6 Mitochondrial Diseases.

Journal: Journal of molecular neuroscience : MN
Published: May 24, 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

Metabolic costs and trade-offs of hypermetabolism in human motor neurons with ATP synthase deficiency.

Metabolic costs and trade-offs of hypermetabolism in human motor neurons with ATP synthase deficiency.

Journal: Communications biology
Published: March 21, 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
Showing 1-12 of 298

Last Updated: 01/07/2026