Results 181 to 186 of about 4,222 (186)

Novel c.316G>C mutation in PDHA1 causes PDH deficiency

Mitochondrion, 2013
Amirah Khouzam, Julia Platt, Rachel Cox, Gregory M. Enns   +3 more
openaire   +1 more source

Pyruvate dehydrogenase deficiency: identification of a novel mutation in the PDHA1 gene which responds to amino acid supplementation

European Journal of Pediatrics, 2008
Maria João Silva, Ana Gaspar, Isabel Tavares De Almeida   +2 more
exaly  

Manifestations of X‐linked pyruvate dehydrogenase complex deficiency in female PDHA1 carriers

European Journal of Neurology
Antri Savvidou, Kalliopi Sofou, Niklas Darin   +2 more
exaly  

Decreased energy production and Ca2+ homeostasis imbalance induce myocardial hypertrophy in PDHA1-deficient human pluripotent stem cell derived cardiomyocytes

Life Sciences
Jianchao Zhang, Yangyang Liu
exaly  

Hippocampal PDHA1 gene knockout inhibits the Warburg effect leading to cognitive dysfunction and attenuates the beneficial effects of ZiBuPiYin recipe on cognition

Journal of Ethnopharmacology
Linfeng Lu, Tingting Bi
exaly  

PDHA1 Orchestrates Hepatocellular Carcinoma Progression Through LINC00607-Mediated Regulation of Cuproptosis and Immune Evasion

Digestive Diseases and Sciences
Libai Lu, Jianchu Wang, Wang Jianchu
exaly