ABSTRACT Objective Variants in SLC6A1, encoding the GABA transporter 1 (GAT‐1), cause epilepsy, autism spectrum disorder, and developmental delay via loss of GABA uptake, impaired trafficking, and ER retention. We previously found that 4‐Phenylbutyrate (PBA), an FDA‐approved drug, restores GABA uptake and reduces seizures in SLC6A1‐related disorders ...
Melissa B. DeLeeuw +5 more
wiley +1 more source
Single Cell and Machine Learning-Based Analysis of Lysosome Mediated Cell Death Reveals Novel Prognostic Biomarkers and Therapeutic Targets in Cervical Cancer. [PDF]
Cheng Y, Li X, Yan D.
europepmc +1 more source
ABSTRACT Objective Facioscapulohumeral muscular dystrophy (FSHD) is one of the most debilitating and common muscular dystrophies. Despite its severity, no approved therapy exists for FSHD patients. However, several therapeutic candidates are currently under development, and some have recently entered clinical trials, marking the need for reliable ...
Mustafa Bilal Bayazit +11 more
wiley +1 more source
Characterization and Clinical Diagnostic Potential of IHRDEGs in Renal Interstitial Fibrosis: An Integrative Data Analysis and Model Construction Study. [PDF]
Zhang J, Dang X, Dai E.
europepmc +1 more source
Uncovering G Protein‐Coupled Receptors: Novel Targets and Biomarkers for Predicting Glioma Prognosis
ABSTRACT Background Low‐grade gliomas (LGG) exhibit significant heterogeneity and recurrence risk. G protein‐coupled receptors (GPCR) contribute to glioma malignant progression, but their prognostic value remains unclear. This work attempts to formulate a GPCR‐based outcome‐predicting model for LGG. Methods Based on TCGA LGG data, the enrichment scores
Jun Yang +4 more
wiley +1 more source
The MAPK Pathway Coordinates an Immunosuppressive Microenvironment in Colorectal Cancer: A Single-Cell Guided Prognostic Model. [PDF]
Zhang Y +6 more
europepmc +1 more source
Sequence determinant and functional relevance of 8-oxoguanine RNA modification unveiled from foundation-model-based predictor. [PDF]
Xia R +9 more
europepmc +1 more source
Computational prediction of potential aggravating mechanisms of polyethylene terephthalate microplastics in diabetic foot ulcers: An integrated in silico approach combining network toxicology, bioinformatics, machine learning, and molecular dynamics simulations. [PDF]
Li D, Ma Z, Li Z, Fu Z, Guo H, Chen Z.
europepmc +1 more source
Apoptosis-related gene model predicts the prognosis in patients with acute myeloid leukemia. [PDF]
Pei X +5 more
europepmc +1 more source

