Results 141 to 150 of about 28,649 (270)

Linking autism risk genes to morphological and pharmaceutical screening by high‐content imaging: Future directions and opinion

open access: yesPsychiatry and Clinical Neurosciences, Volume 79, Issue 8, Page 435-446, August 2025.
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

open access: yesMolecules and Cells, 2009
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

open access: yesASN Neuro, 2014
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

Characterization of Fragile X Mental Retardation Protein granules formation and dynamics in Drosophila

open access: yesBiology Open, 2012
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

Noninvasive Assessment of β‐Secretase Activity Through Click Chemistry‐Mediated Enrichment of Neuronal Extracellular Vesicles to Detect Alzheimer's Disease

open access: yesAdvanced Science, Volume 12, Issue 26, July 10, 2025.
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]

open access: yes, 2016
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

open access: yesAdvanced Science, Volume 12, Issue 26, July 10, 2025.
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

Bisphosphonates and the risk of dementia in patients with osteoporosis or fragility fracture: A population‐based study in Hong Kong

open access: yesAlzheimer's &Dementia, Volume 21, Issue 7, July 2025.
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

open access: yesJournal of Biomedicine and Translational Research, 2020
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 mental retardation protein controls synaptic vesicle exocytosis by modulating N-type calcium channel density

open access: yesNature Communications, 2014
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

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