Results 141 to 150 of about 28,649 (270)
Next‐generation sequencing has identified risk genes with large effect sizes for autism spectrum disorders (ASD). Although functional analysis of individual risk genes has progressed, the overall picture of ASD pathogenesis is unclear. Therefore, there is a need for morphological profiling of variants in these genes to fully comprehend their ...
Reza K. Arta+4 more
wiley +1 more source
Fragile X Mental Retardation Protein in Learning-Related Synaptic Plasticity
Fragile X syndrome (FXS) is caused by a lack of the fragile X mental retardation protein (FMRP) due to silencing of the Fmr1 gene. As an RNA binding protein, FMRP is thought to contribute to synaptic plasticity by regulating plasticity-related protein synthesis and other signaling pathways.
Min Zhuo+3 more
openaire +3 more sources
Cerebral Protein Synthesis in a Knockin Mouse Model of the Fragile X Premutation
The (CGG)n-repeat in the 5′-untranslated region of the fragile X mental retardation gene ( FMR1 ) gene is polymorphic and may become unstable on transmission to the next generation.
Mei Qin+8 more
doaj +1 more source
Summary FMRP is an evolutionarily conserved protein that is highly expressed in neurons and its deficiency causes fragile X mental retardation syndrome.
Cristina Gareau+4 more
doaj +1 more source
This study presents the NEV β‐secretase activity assay, a groundbreaking method for noninvasive evaluation of β‐secretase activity in Alzheimer's disease (AD) patients, enabling the generation of individualized β‐secretase activity profiles.
Hyoyong Kim+19 more
wiley +1 more source
The translational regulator dFMRP interacts with epidermal growth factor receptor to regulate apoptosis in Drosophila [PDF]
poster abstractPosttranscriptional gene regulation is required for all aspects of cellular and tissue development and is a major mechanism underlying many diseases ranging from neurological disorders to cancer.
Sherwood, Jacqueline E.+2 more
core
The Molecular Basis of Amino Acids Sensing
Amino acids are essential as protein building blocks and signaling molecules, enabling metabolic regulation. Cells sense amino acid levels to control protein synthesis, maintain homeostasis, and adapt to nutritional changes. This review explores recent advances in amino acid sensing mechanisms across organisms, highlighting their roles in cellular ...
Cong Jiang+3 more
wiley +1 more source
Abstract INTRODUCTION Emerging evidence suggests neuroprotective effects of bisphosphonates. We aim to investigate whether nitrogen‐containing bisphosphonates (NBPs) could reduce the risk of Alzheimer's disease and related dementia (ADRD). METHODS We identified patients aged 60+ with osteoporosis or fragility fracture in 2005–2020 from a healthcare ...
Chor‐Wing Sing+6 more
wiley +1 more source
Fragile X Syndrome and Targeted Treatments
Many targeted treatment studies have been carried out in individuals with Fragile X Syndrome (FXS) guided by animal studies from the Fragile X Mental Retardation 1 (FMR1) knock out (KO) mice and the fragile X Drosophila studies.
Nattaporn Tassanakijpanich+3 more
doaj +1 more source
Fragile X syndrome (FXS), the most common heritable form of mental retardation, is characterized by synaptic dysfunction. Synaptic transmission depends critically on presynaptic calcium entry via voltage-gated calcium (CaV) channels.
L. Ferron+3 more
semanticscholar +1 more source