SLC6A20A is a proline and glycine transporter known to regulate glycine homeostasis and NMDA receptor (NMDAR) function in the brain. A previous study found increases in ambient glycine levels and NMDA receptor-mediated synaptic transmission in the brains of -haploinsufficient mice, but it remained unknown whether deficiency leads to disease-related behavioral deficits in mice. Here, we report that heterozygous and homozygous mutant mice display differential behavioral phenotypes in locomotor, repetitive behavioral, and spatial and fear memory domains. In addition, these mice show differential transcriptomic changes in synapse, ribosome, mitochondria, autism, epilepsy, and neuron-related genes. These results suggest that heterozygous and homozygous deletions in mice lead to differential changes in behaviors and transcriptomes.
Download full-text PDF |
Source |
---|---|
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8936588 | PMC |
http://dx.doi.org/10.3389/fnmol.2022.857820 | DOI Listing |
Intern Emerg Med
January 2025
Department of Gastroenterology, Hepatology and Transplant Medicine, Medical Faculty, University of Duisburg-Essen, Hufelandstraße 55, 45147, Essen, Germany.
Gallstones are among the most frequent hepatobiliary conditions. Although in most cases, they remain asymptomatic, they can cause complications and, in such cases, invasive treatments like endoscopic retrograde cholangiography (ERC) or cholecystectomy are required. Here, we present the results of genetic testing of a single family with a high incidence of symptomatic gallstones and cholestatic liver phenotypes.
View Article and Find Full Text PDFAlzheimers Dement
December 2024
Department of Psychiatry and Neurochemistry, Institute of Neuroscience and Physiology, The Sahlgrenska Academy, University of Gothenburg, Mölndal, Gothenburg, Sweden.
Background: The APOE ε4 variant is the largest known genetic risk factor for late-onset sporadic Alzheimer's disease (AD). Recent blood biomarker models include APOE ε4 status with plasma p-tau217 for higher accuracy for AD pathology. Thus, protein assays that can accurately determine ε4 carriership simultaneously with plasma p-tau217 would be advantageous for clinical use.
View Article and Find Full Text PDFBackground: AL002 is a humanized, TREM2-selective, agonistic IgG1 monoclonal antibody. The INVOKE-2 study is the first to test the efficacy and safety of a TREM2 agonistic antibody in participants with Alzheimer's Disease (AD). A Phase 1 study of AL002 demonstrated dose-dependent target engagement and dose-dependent effects on microglial signaling biomarkers; AL002 was well tolerated at all doses tested.
View Article and Find Full Text PDFAlzheimers Dement
December 2024
Washington University in St. Louis, School of Medicine, St. Louis, MO, USA.
Background: The double-blind (DB) period of the DIAN-TU-001 phase 3 trial with gantenerumab provided evidence of significant but incomplete reduction of amyloid plaques, cerebrospinal fluid total tau, and phospho-tau181 in dominantly inherited Alzheimer's disease (DIAD).Subsequently, eligible participants transitioned to an open-label extension (OLE) period using higher doses of gantenerumab (1500mg SC-administered every two weeks [q2w]).
Method: 73 DIAD participants entered the OLE period.
Background: Alzheimer's disease (AD) is a progressive neurodegenerative disorder marked by the presence of brain amyloid beta (Aβ) plaques and stages of memory loss, cognitive decline, psychological and psychiatric changes, inability to perform activities of daily living, dementia, and eventually death. Recent evidence demonstrates the slowing of clinical decline with plaque-clearing, anti-Aβ monoclonal antibodies. PRX012 is a humanized monoclonal antibody that targets and clears known pathogenic forms of Aβ in development for subcutaneous (SC) use.
View Article and Find Full Text PDFEnter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!