Dihydrolipoamide Dehydrogenase Deficiency Latest Advances
Find the Latest Research About Dihydrolipoamide Dehydrogenase Deficiency
Last Updated: 04/28/2026
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Found 644 publications
GSNOR deletion differentially alters age-related cardiac function in a sex-dependent manner.
Journal: American journal of physiology. Heart and circulatory physiology
Published: December 17, 2025
Bioenergetic Signatures of DLD Deficiency: Dissecting PDHc- and α-KGDHc-Linked Defects.
Journal: Antioxidants (Basel, Switzerland)
Published: October 23, 2025
Novel Biallelic Variants in DLD Gene Cause a Reversible Sensory Neuropathy.
Journal: Clinical genetics
Published: June 26, 2025
Genetic variability in maple syrup urine disease: novel mutations and their pathogenicity in the Iranian population.
Journal: Molecular biology reports
Published: June 13, 2025
Semaphorin 7A aggravates abdominal aortic aneurysm through PDK1/SGK3/YTHDC1 axis-mediated phenotypic switching of vascular smooth muscle cells.
Journal: Cardiovascular research
Published: June 10, 2025
Adenine base editing rescues disrupted BCKDH function and reduces BCAAs toxic accumulation in maple syrup urine disease patient iPSC-hepatic organoids.
Journal: Stem cell research & therapy
Published: May 14, 2025
PDK4-driven lactate accumulation facilitates LPCAT2 lactylation to exacerbate sepsis-induced acute lung injury.
Journal: Cell death and differentiation
Published: April 07, 2025
Acute encephalopathy in a neonate: a diagnostic odyssey leading to maple syrup urine disease (MSUD).
Acute encephalopathy in a neonate: a diagnostic odyssey leading to maple syrup urine disease (MSUD).
Journal: BMJ case reports
Published: March 25, 2025
Metabolism-related gene PDK1 regulates myocardial cell remodeling and its mechanism.
Journal: Stem cell research & therapy
Published: February 27, 2025
BCKDHA-BCKDHB digenic gene therapy restores metabolic homeostasis in two mouse models and a calf with classic maple syrup urine disease.
Journal: Science translational medicine
Published: February 26, 2025
Compensation for X-linked Pdha1 silencing by Pdha2 is essential for meiotic double-strand break repair in spermatogenesis.
Journal: Development (Cambridge, England)
Published: January 28, 2025
Short-term methionine deprivation inhibits TCA cycle and regulates macrophage polarization through uncharged tRNA and PDHA1 phosphorylation.
Journal: The Journal of nutritional biochemistry
Published: January 21, 2025
Last Updated: 04/28/2026