… /PKA inhibition rescues hippocampal hyperexcitability and GABAergic neuron alterations in a oligophrenin-1 knock-out mouse model of X-linked intellectual disability
… Because the Ophn1 gene is located on X chromosome, only male mice were used for our
experiments because they develop X-linked ID, while females are not-affected carriers. The …
experiments because they develop X-linked ID, while females are not-affected carriers. The …
Oligophrenin-1 moderates behavioral responses to stress by regulating parvalbumin interneuron activity in the medial prefrontal cortex
… Here, we focused on characterizing the syndromic ID gene oligophrenin-1 (OPHN1). We
find that Ophn1 deficiency in mice markedly enhances helpless/depressive-like behavior in the …
find that Ophn1 deficiency in mice markedly enhances helpless/depressive-like behavior in the …
Familial intragenic X-linked OPHN1 gene deletion in a newborn male infant with low birth weight and distinctive facial appearance that diagnosed by advanced …
… The Rho-linked mental retardation protein oligophrenin-1 controls synapse maturation …
X-linked mental retardation protein oligophrenin-1 is required for dendritic spine morphogenesis…
X-linked mental retardation protein oligophrenin-1 is required for dendritic spine morphogenesis…
A novel partial duplication in OPHN1, associated with vermis cerebellar hypoplasia, seizures and developmental delay
L Kirola, J Norris, L Holloway, T Brandt, K Kaercher… - Gene Reports, 2022 - Elsevier
… in the Oligophrenin 1 gene (OPHN1) cause an X-linked intellectual disability syndrome with
… , and participates in synaptic localization, dendritic spine morphogenesis, AMPA receptor-…
… , and participates in synaptic localization, dendritic spine morphogenesis, AMPA receptor-…
Spine impairment in mice high-expressing neuregulin 1 due to LIMK1 activation
… Here, we studied the effects of high-level NRG1 on dendritic spine … spine morphogenesis
52,53,54 . Downstreams of Rho GTPases include LIMK1, Wiskott–Aldrich syndrome proteins (…
52,53,54 . Downstreams of Rho GTPases include LIMK1, Wiskott–Aldrich syndrome proteins (…
Prenatal treatment with rapamycin restores enhanced hippocampal mGluR-LTD and mushroom spine size in a Down's syndrome mouse model
JD Urbano-Gámez, JJ Casañas, I Benito… - Molecular Brain, 2021 - Springer
… dendritic spine density and morphology. We found that prenatal treatment with rapamycin
did not recover the decreased density of dendritic spines … Fragile X mental retardation protein …
did not recover the decreased density of dendritic spines … Fragile X mental retardation protein …
The molecular basis of p21-activated kinase-associated neurodevelopmental disorders: From genotype to phenotype
M Dobrigna, S Poëa-Guyon, V Rousseau… - Frontiers in …, 2023 - frontiersin.org
… , and other interactions with protein partners. Cofilin controls dendritic spine dynamics and
… genetic involvement in NDDs, compared to the X-linked PAK3 gene. The first evidence of a …
… genetic involvement in NDDs, compared to the X-linked PAK3 gene. The first evidence of a …
Neuronal cytoskeleton in intellectual disability: from systems biology and modeling to therapeutic opportunities
… , such as OPHN1 (oligophrenin 1), ARHGEF9 (Cdc42 … DDX3X (DEAD-box helicase 3 X-linked),
coding for an RNA … in neurite outgrowth and dendritic spine formation via modulation of …
coding for an RNA … in neurite outgrowth and dendritic spine formation via modulation of …
Role of Bin‐Amphiphysin‐Rvs (BAR) domain proteins in mediating neuronal signaling and disease
B Mallik, S Bhat, V Kumar - Synapse, 2022 - Wiley Online Library
… role of these proteins in neuronal morphogenesis, … proteins such as RAPOSTLIN are
explored in dendritic spine formation in rat hippocampal neurons and MIM; for the dendritic spine …
explored in dendritic spine formation in rat hippocampal neurons and MIM; for the dendritic spine …
Micro-Scale Control of Oligodendrocyte Morphology and Myelination by the Intellectual Disability-Linked Protein Acyltransferase ZDHHC9
HK Jeong, E Gonzalez-Fernandez, I Crawley, J Hwang… - bioRxiv, 2023 - biorxiv.org
… Mutations in the X-linked ZDHHC9 gene cause cognitive … , despite the clear changes
in OL morphogenesis, we did not … involved in X-linked mental retardation. Nature 392, 923-926 …
in OL morphogenesis, we did not … involved in X-linked mental retardation. Nature 392, 923-926 …