Mitochondrial Complex V Deficiency Latest Advances

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.

Journal: BMJ case reports

Published: August 08, 2025

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.

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.

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.

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.

Journal: American journal of medical genetics. Part A

Published: June 06, 2025

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.

Journal: Journal of translational medicine

Published: April 01, 2025

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.

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.

Journal: Neurology

Published: March 20, 2025

Mitochondrial Complex V Deficiency Latest Advances

Find the Latest Research About Mitochondrial Complex V Deficiency

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.

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.

Dominant negative ATP5F1A variants disrupt oxidative phosphorylation causing neurological disorders.

Dominant negative ATP5F1A variants disrupt oxidative phosphorylation causing neurological disorders.

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.

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.

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.

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

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

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

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

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

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

Dominant negative ATP5F1A variants disrupt oxidative phosphorylation causing neurological disorders.

Dominant negative ATP5F1A variants disrupt oxidative phosphorylation causing neurological disorders.

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.

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.