[HTML][HTML] WNT signalling control by KDM5C during development affects cognition

V Karwacki-Neisius, A Jang, E Cukuroglu, A Tai, A Jiao…�- Nature, 2024 - nature.com
Although KDM5C is one of the most frequently mutated genes in X-linked intellectual
disability, the exact mechanisms that lead to cognitive impairment remain unknown. Here we�…

[HTML][HTML] Responsible Genes for Neuronal Migration in the Chromosome 17p13.3: Beyond Pafah1b1(Lis1), Crk and Ywhae(14-3-3ε)

X Liu, SA Bennison, L Robinson, K Toyo-Oka�- Brain sciences, 2021 - mdpi.com
The 17p13. 3 chromosome region is often deleted or duplicated in humans, resulting in
severe neurodevelopmental disorders such as Miller–Dieker syndrome (MDS) and 17p13. 3�…

[HTML][HTML] Functional and neuropathological evidence for a role of the brainstem in autism

JS Baizer�- Frontiers in Integrative Neuroscience, 2021 - frontiersin.org
The brainstem includes many nuclei and fiber tracts that mediate a wide range of functions.
Data from two parallel approaches to the study of autistic spectrum disorder (ASD) implicate�…

Fragile X syndrome: lessons learned and what new treatment avenues are on the horizon

RJ Hagerman, PJ Hagerman�- Annual Review of Pharmacology�…, 2022 - annualreviews.org
Fragile X syndrome (FXS) is the most common form of inherited intellectual disability and the
leading single-gene form of autism spectrum disorder, encompassing cognitive, behavioral�…

[HTML][HTML] FMRP levels in human peripheral blood leukocytes correlates with intellectual disability

M Roth, L Ronco, D Cadavid, B Durbin-Johnson…�- Diagnostics, 2021 - mdpi.com
Fragile X syndrome (FXS) is the most common form of inherited intellectual disability. FXS is
an X-linked, neurodevelopmental disorder caused by a CGG trinucleotide repeat expansion�…

[HTML][HTML] Role of SHANK3 in concentrated ambient PM2. 5 exposure induced autism-like phenotype

K Li, X Liang, X Xie, L Tian, J Yan, B Lin, H Liu, W Lai…�- Heliyon, 2023 - cell.com
Perinatal air pollution plays an important role in the development of autism. However,
research on the pathogenic mechanism remains limited. In this study, the model of systemic�…

Recent development and applications of ambient mass spectrometry imaging in pharmaceutical research: An overview

BS Kumar�- Analytical Methods, 2023 - pubs.rsc.org
The application of ambient mass spectrometry imaging “MSI” is expanding in the areas of
fundamental research on drug delivery and multiple phases of the process of identifying and�…

Lysine acetylome profiling in mouse hippocampus and its alterations upon FMRP deficiency linked to abnormal energy metabolism

YY Wu, C Yang, HJ Yan, P Lu, L Zhang, WC Feng…�- Journal of�…, 2022 - Elsevier
Loss of fragile X retardation protein (FMRP) leads to fragile X syndrome (FXS), a common
cause of inherited intellectual disability. Protein lysine acetylation (K-ac), a reversible post�…

[HTML][HTML] Evaluating the effect of R-Baclofen and LP-211 on autistic behavior of the BTBR and Fmr1-KO mouse models

S Sharghi, S Flunkert, M Daurer, R Rabl…�- Frontiers in�…, 2023 - frontiersin.org
Introduction Autism spectrum disorder (ASD) is a persistent neurodevelopmental condition
characterized by two core behavioral symptoms: impaired social communication and�…

[HTML][HTML] Fragile X mental retardation protein and cerebral expression of metabotropic glutamate receptor subtype 5 in men with fragile X syndrome: a pilot study

JR Brašić, JA Goodman, A Nandi, DS Russell…�- Brain Sciences, 2022 - mdpi.com
Multiple lines of evidence suggest that a deficiency of Fragile X Mental Retardation Protein
(FMRP) mediates dysfunction of the metabotropic glutamate receptor subtype 5 (mGluR5) in�…