eIF3d and eIF3e mediate selective translational control of hypoxia that can be inhibited by small molecules. [PDF]
Purdy SC +20 more
europepmc +1 more source
Exploratory Analysis of ELP1 Expression in Whole Blood From Patients With Familial Dysautonomia
ABSTRACT Background Familial dysautonomia (FD) is a hereditary neurodevelopmental disorder caused by aberrant splicing of the ELP1 gene, leading to a tissue‐specific reduction in ELP1 protein expression. Preclinical models indicate that increasing ELP1 levels can mitigate disease manifestations.
Alejandra González‐Duarte +13 more
wiley +1 more source
Molecular gatekeepers: eukaryotic translation factors decoding plant-virus dynamics for resistance engineering. [PDF]
Singhal P +7 more
europepmc +1 more source
Age‐Related Characteristics of SYT1‐Associated Neurodevelopmental Disorder
ABSTRACT Objectives We describe the clinical manifestations and developmental abilities of individuals with SYT1‐associated neurodevelopmental disorder (Baker‐Gordon syndrome) from infancy to adulthood. We further describe the neuroradiological and electrophysiological characteristics of the condition at different ages, and explore the associations ...
Sam G. Norwitz +3 more
wiley +1 more source
Genetic Reduction of the Translational Repressors FMRP and 4E-BP2 Preserves Memory in Mouse Models of Alzheimer's Disease. [PDF]
Ribeiro FC +11 more
europepmc +1 more source
ABSTRACT Objective People with epilepsy (PWE) may experience cognitive deficits but fail to undergo formal evaluation. This study compares cognitive status between PWE and healthy controls in the West African Republic of Guinea. Methods A cross‐sectional, case–control study was conducted in sequential recruitment phases (July 2024–July 2025) at Ignace ...
Maya L. Mastick +14 more
wiley +1 more source
Integrating human-AI collaboration into translation education: A comprehensive protocol for assessment, diagnosis, and strategy development. [PDF]
Ren X, Wang R.
europepmc +1 more source
Utilization of guidelines and educational resources in telomere biology disorders: Patterns of information-seeking behaviors and knowledge translation among clinicians and families [PDF]
Hannah Raj +2 more
openalex +1 more source
Whole‐Body Pattern of Muscle Degeneration and Progression in Sarcoglycanopathies
ABSTRACT Objective To characterize whole‐body intramuscular fat distribution pattern in patients with sarcoglycanopathies and explore correlations with disease severity, duration and age at onset. Methods Retrospective, cross‐sectional, multicentric study enrolling patients with variants in one of the four sarcoglycan genes who underwent whole‐body ...
Laura Costa‐Comellas +39 more
wiley +1 more source

