Multifarious functions of the fragile X mental retardation protein

JK Davis, K Broadie - Trends in Genetics, 2017 - cell.com
Fragile X syndrome (FXS), a heritable intellectual and autism spectrum disorder (ASD),
results from the loss of Fragile X mental retardation protein (FMRP). This …

Molecular mechanisms of synaptic dysregulation in fragile X syndrome and autism spectrum disorders

M Telias - Frontiers in molecular neuroscience, 2019 - frontiersin.org
Fragile X syndrome (FXS) is the most common form of monogenic hereditary cognitive
impairment. FXS patient exhibit a high comorbidity rate with autism spectrum disorders …

Presynaptic FMRP and local protein synthesis support structural and functional plasticity of glutamatergic axon terminals

HR Monday, SC Kharod, YJ Yoon, RH Singer… - Neuron, 2022 - cell.com
Learning and memory rely on long-lasting, synapse-specific modifications. Although
postsynaptic forms of plasticity typically require local protein synthesis, whether and how …

γ-secretase promotes Drosophila postsynaptic development through the cleavage of a Wnt receptor

LJ Restrepo, AT DePew, ER Moese, SR Tymanskyj… - Developmental cell, 2022 - cell.com
Developing synapses mature through the recruitment of specific proteins that stabilize
presynaptic and postsynaptic structure and function. Wnt ligands signaling via Frizzled (Fz) …

Sumoylation regulates FMRP-mediated dendritic spine elimination and maturation

A Khayachi, C Gwizdek, G Poupon, D Alcor… - Nature …, 2018 - nature.com
Fragile X syndrome (FXS) is the most frequent inherited cause of intellectual disability and
the best-studied monogenic cause of autism. FXS results from the functional absence of the …

Structure, biophysics, and circuit function of a “giant” cortical presynaptic terminal

D Vandael, P Jonas - Science, 2024 - science.org
The hippocampal mossy fiber synapse, formed between axons of dentate gyrus granule
cells and dendrites of CA3 pyramidal neurons, is a key synapse in the trisynaptic circuitry of …

Keeping excitation–inhibition ratio in balance

S Kirischuk - International journal of molecular sciences, 2022 - mdpi.com
Unrelated genetic mutations can lead to convergent manifestations of neurological disorders
with similar behavioral phenotypes. Experimental data frequently show a lack of dramatic …

[HTML][HTML] Exposure to bisphenol A differentially impacts neurodevelopment and behavior in Drosophila melanogaster from distinct genetic backgrounds

U Nguyen, B Tinsley, Y Sen, J Stein, Y Palacios… - Neurotoxicology, 2021 - Elsevier
Bisphenol A (BPA) is a ubiquitous environmental chemical that has been linked to
behavioral differences in children and shown to impact critical neurodevelopmental …

Regulation of hippocampal mossy fiber-CA3 synapse function by a Bcl11b/C1ql2/Nrxn3 (25b+) pathway

A Koumoundourou, M Rannap, E De Bruyckere… - Elife, 2024 - elifesciences.org
The transcription factor Bcl11b has been linked to neurodevelopmental and
neuropsychiatric disorders associated with synaptic dysfunction. Bcl11b is highly expressed …

Profilin isoforms in health and disease–all the same but different

K Murk, M Ornaghi, J Schiweck - Frontiers in Cell and Developmental …, 2021 - frontiersin.org
Profilins are small actin binding proteins, which are structurally conserved throughout
evolution. They are probably best known to promote and direct actin polymerization …