… /PKA inhibition rescues hippocampal hyperexcitability and GABAergic neuron alterations in a oligophrenin-1 knock-out mouse model of X-linked intellectual disability

I Busti, M Allegra, C Spalletti, C Panzi… - Journal of …, 2020 - Soc Neuroscience
… 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 …

Oligophrenin-1 moderates behavioral responses to stress by regulating parvalbumin interneuron activity in the medial prefrontal cortex

M Wang, NB Gallo, Y Tai, B Li, L Van Aelst - Neuron, 2021 - cell.com
… 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 …

Familial intragenic X-linked OPHN1 gene deletion in a newborn male infant with low birth weight and distinctive facial appearance that diagnosed by advanced …

H Aylanc, F Sılan, T Çokyaman… - Cumhuriyet Medical …, 2022 - cmj.cumhuriyet.edu.tr
… The Rho-linked mental retardation protein oligophrenin-1 controls synapse maturation …
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-…

Spine impairment in mice high-expressing neuregulin 1 due to LIMK1 activation

P Chen, H Jing, M Xiong, Q Zhang, D Lin, D Ren… - Cell Death & …, 2021 - nature.com
… Here, we studied the effects of high-level NRG1 on dendritic spinespine morphogenesis
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

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 …

Neuronal cytoskeleton in intellectual disability: from systems biology and modeling to therapeutic opportunities

C Liaci, M Camera, G Caslini, S Rando… - International Journal of …, 2021 - mdpi.com
… , 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 …

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

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 …