A novel homozygous variant in COX5A causes an attenuated phenotype with failure to thrive, lactic acidosis, hypoglycemia, and short stature
Sign Up to like & getrecommendations! Published in 2022 at "Clinical Genetics"
DOI: 10.1111/cge.14127
Abstract: Genetic defect in the nuclear encoded subunits of cytochrome c oxidase are very rare. To date, most deleterious variants affect the mitochondrially encoded subunits of complex IV and the nuclear genes encoded for assembly factors.… read more here.
Keywords: lactic acidosis; thrive lactic; cox5a; failure thrive ... See more keywords
Protective role of cytochrome c oxidase 5A (COX5A) against mitochondrial disorder and oxidative stress in VSMC phenotypic modulation and neointima formation.
Sign Up to like & getrecommendations! Published in 2023 at "Current vascular pharmacology"
DOI: 10.2174/1570161121666230315142507
Abstract: BACKGROUND The pathological role of cytochrome c oxidase 5A (COX5A) in vascular neointima formation remains unknown. AIM This study aims to investigate the role of COX5A on Platelet-derived growth factor BB (PDGF-BB)-mediated smooth muscle phenotypic… read more here.
Keywords: role; phenotypic modulation; cox5a; neointima formation ... See more keywords
COX5A Plays a Vital Role in Memory Impairment Associated With Brain Aging via the BDNF/ERK1/2 Signaling Pathway
Sign Up to like & getrecommendations! Published in 2020 at "Frontiers in Aging Neuroscience"
DOI: 10.3389/fnagi.2020.00215
Abstract: Cytochrome c oxidase subunit Va (COX5A) is involved in maintaining normal mitochondrial function. However, little is known on the role of COX5A in the development and progress of Alzheimer’s disease (Martinez-Losa et al., 2018). In… read more here.
Keywords: bdnf erk1; via bdnf; role; cox5a ... See more keywords