Ask about this productRelated genes to: PDHA1 Blocking Peptide
- Gene:
- PDHA1 NIH gene
- Name:
- pyruvate dehydrogenase E1 alpha 1 subunit
- Previous symbol:
- PDHA
- Synonyms:
- -
- Chromosome:
- Xp22.12
- Locus Type:
- gene with protein product
- Date approved:
- 1989-06-30
- Date modifiied:
- 2017-08-08
Related products to: PDHA1 Blocking Peptide
Related articles to: PDHA1 Blocking Peptide
- Congenital disorders of cortical development arise from genetic lesions that disrupt neurogenesis and neuronal migration. Unfortunately, tools to model or correct these defects before birth are limited. Here we establish a platform for systemic gene delivery and genome editing in the mouse cortex at midgestation. By microdissecting a uterine window over the vitelline vein at embryonic day 12.5 (E12.5), we achieve fetal circulation access, enabling robust AAV-mediated transduction of the central nervous system (CNS) while reducing off-target expression in peripheral organs. Barcoded capsid screens reveal that AAV9 exhibits developmental stage-dependent tropism, with higher CNS penetrance and lower liver transduction at E12.5 than at E15.5. Leveraging this window, we provide a proof-of-concept of efficient cortical editing, using Cre-lox and CRISPR/Cas9 strategies to recapitulate prenatal reeler-like cortical misordering phenotypes following knockout. We further use homology-directed repair to demonstrate precise genome modification, epitope-tagging the endogenous and loci, and installing a human-derived pathogenic allele of . Importantly, we show that edited cells span neural progenitors and differentiated neurons across the cortex and hippocampus. These results define a permissive midgestational window for prenatal genome editing, providing a platform for functional modeling of congenital CNS disorders and exploration of early therapeutic interventions with minimized peripheral exposure. - Source: PubMed
Publication date: 2026/05/01
Jackson Cameron RBorsos MátéAppling NathanJackson Carrie RCoughlin Gerard MGradinaru Viviana - Colorectal cancer (CRC) is a leading cause of cancer-related mortality worldwide, with limited effective targeted therapies. Metabolic reprogramming is a hallmark of cancer, and post-translational modifications (PTMs), such as phosphorylation, ubiquitination, and malonylation, play critical roles in regulating metabolic pathways. However, their contribution to metabolic reprogramming in CRC remains unclear. - Source: PubMed
Li TianyuanDong JingjingZhang YujieHao ErjiaoDU JieFeng MinZhu FengQin JuanZhang WeiDai Yong - Lesion mimic mutants (LMMs) spontaneously develop defense-related cell death lesions, serving as ideal models for studying plant immunity. However, the metabolic mechanisms underlying light-dependent lesion formation remain poorly understood. - Source: PubMed
Publication date: 2026/04/10
Chen ZiqiangKong LanLiu HuaqingLi GangTian DagangWang YueLin YarongYan JingwanGuo XinruiHu ChangquanYang Shaohua - Alzheimer's disease (AD) is characterized by progressive neurodegeneration and impaired glucose metabolism. While most studies focus on heavily affected brain regions such as the hippocampus and prefrontal cortex, the visual cortex remains relatively preserved in early AD and provides an opportunity to examine metabolic alterations that precede widespread pathology. - Source: PubMed
Publication date: 2026/04/09
Mjaaseth Ulrik NHsu Ming-FoArballo JosephHaj Fawaz GPatel Viharkumar - Pyruvate dehydrogenase complex (PDHc) deficiency is a potentially treatable neurodegenerative genetic disorder. It represents a common cause of mitochondrial disease. Most published reports are limited to single cases, and population-based data are lacking. The objective of this study was to investigate the prevalence, incidence, and life expectancy and to explore genotype-phenotype correlations, clinical onset, and disease course. - Source: PubMed
Publication date: 2026/04/14
Savvidou AntriSofou KalliopiThunström SofiaYgberg SofiaEklund Erik ANaess KarinKollberg GittanDarin Niklas