Results 51 to 60 of about 2,120 (152)
FMRP‐Mediated Proteasome Regulation: A Novel Mechanism in ALS Pathology
Schematic model of TDP‐43/TNKS‐mediated proteasome regulation in WT, FMRP‐depleted, and TDP‐43A315T‐Tg ALS neurons. In WT neurons, cytoplasmic TDP‐43 partially sequesters TNKS, maintaining balanced PI31 ribosylation and proteasome activity. FMRP depletion promotes nuclear translocation of TDP‐43, enhances TNKS/PI31 interaction, and increases axonal ...
Pritha Majumder +5 more
wiley +1 more source
Tumor suppressor p53 prevents cell transformation by inducing apoptosis and other responses. Homozygous TP53 deletion occurs in various types of human cancers for which no therapeutic strategies have yet been reported.
Yichao Fan +15 more
doaj +1 more source
The Use of “Retardation” in FRAXA, FMRP, FMR1 and Other Designations
The European Fragile X Network met in Wroclaw, Poland, November 2021, and agreed to work towards the eradication of the word “retardation” in regard to the naming of the fragile X gene (FRAXA) and protein (FMRP).
Jonathan Herring +2 more
doaj +1 more source
Dietary and biomarker‐guided strategies as supportive measures in the fragile X syndrome
Abstract The fragile X syndrome (FXS) is an inherited neurodevelopmental disorder that primarily affects males, often resulting in an IQ below 55, while about two‐thirds of females also experience intellectual disability. Physical features may include an elongated face, prominent ears, finger joint laxity, and enlarged testes in males.
Jailan E. El Halawani, Reem R. AlOlaby
wiley +1 more source
Fragile X family members have important and non-overlapping functions
The fragile X family of genes encodes a small family of RNA binding proteins including FMRP, FXR1P and FXR2P that were identified in the 1990s. All three members are encoded by 17 exons and show alternative splicing at the 3′ ends of their respective ...
Winograd Claudia, Ceman Stephanie
doaj +1 more source
The RNA‐binding protein FXR1 promotes hepatocellular carcinoma (HCC) progression by driving alternative splicing of MK5 to generate an oncogenic isoform, MK5‐L, which activates the Wnt/β‐catenin pathway. Targeting FXR1 with an antisense oligonucleotide suppresses tumor growth in vivo, revealing a promising therapeutic strategy for HCC.
Yutong Li +6 more
wiley +1 more source
Fragile X–Related Protein 1 Regulates Nucleoporin Localization in a Cell Cycle–Dependent Manner
Nuclear pore complexes (NPCs) are embedded in the nuclear envelope (NE) where they ensure the transport of macromolecules between the nucleus and the cytoplasm.
Arantxa Agote-Arán +11 more
doaj +1 more source
Uncovering the Genetic Landscape of Spinal Dysraphism: A Retrospective Analysis of 150 Fetal Cases
ABSTRACT Objective Spinal dysraphism (SD) results from incomplete neural tube closure and encompasses a heterogeneous group of congenital anomalies with genetic and environmental etiologies. Although genetic contributions are recognized, causative variants remain insufficiently defined, and the clinical implications of extended genetic testing on ...
I. Bedei +9 more
wiley +1 more source
Inhibition of glycogen synthase kinase 3 by lithium, a mechanism in search of specificity
Inhibition of Glycogen synthase kinase 3 (GSK3) is a popular explanation for the effects of lithium ions on mood regulation in bipolar disorder and other mental illnesses, including major depression, cyclothymia, and schizophrenia.
Dipashree Chatterjee +1 more
doaj +1 more source
This study reveals that Urolithin A (UA) counteracts alcohol‐induced cognitive and social dysfunction (AICSD) via a gut microbiome‐dependent mechanism. UA‐enriched Bacteroids sartorii and Parabacteroids distasonis elevate anandamide (AEA), which activates the CB1R‐DRD2‐Rap1 signaling cascade to drive synaptic repair and reduce neuroinflammation ...
Hongbo Zhang +9 more
wiley +1 more source

