[HTML][HTML] RNA-Binding Proteins: A Role in Neurotoxicity?

A Ochar�n-Mercado, J Loaeza-Loaeza…�- Neurotoxicity�…, 2023 - Springer
Despite sustained efforts to treat neurodegenerative diseases, little is known at the
molecular level to understand and generate novel therapeutic approaches for these�…

[HTML][HTML] Spatially coordinated heterochromatinization of long synaptic genes in fragile X syndrome

T Malachowski, KR Chandradoss, R Boya, L Zhou…�- Cell, 2023 - cell.com
Short tandem repeat (STR) instability causes transcriptional silencing in several repeat
expansion disorders. In fragile X syndrome (FXS), mutation-length expansion of a CGG STR�…

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�…

[HTML][HTML] Proteomics insights into fragile X syndrome: Unraveling molecular mechanisms and therapeutic avenues

DA Abbasi, E Berry-Kravis, X Zhao, SM Cologna�- Neurobiology of Disease, 2024 - Elsevier
Abstract Fragile X Syndrome (FXS) is a neurodevelopment disorder characterized by
cognitive impairment, behavioral challenges, and synaptic abnormalities, with a genetic�…

Anandamide and 2-arachidonoylglycerol differentially modulate autistic-like traits in a genetic model of autism based on FMR1 deletion in rats

S Schiavi, A Manduca, E Carbone, V Buzzelli…�- …, 2023 - nature.com
Autism spectrum disorder (ASD) has a multifactorial etiology. Major efforts are underway to
understand the neurobiological bases of ASD and to develop efficacious treatment�…

[HTML][HTML] Directly reprogrammed fragile X syndrome dorsal forebrain precursor cells generate cortical neurons exhibiting impaired neuronal maturation

N Edwards, C Combrinck…�- Frontiers in Cellular�…, 2023 - frontiersin.org
Introduction The neurodevelopmental disorder fragile X syndrome (FXS) is the most
common monogenic cause of intellectual disability associated with autism spectrum�…

Early postnatal development of the MDGA2+/-mouse model of synaptic dysfunction

E Fertan, AA Wong, TS Garvock-de Montbrun…�- Behavioural Brain�…, 2023 - Elsevier
Synaptic dysfunction underlies many neurodevelopmental disorders (NDDs). The
membrane-associated mucin domain-containing glycosylphosphatidylinositol anchor�…

Hyperexcitability in the olfactory bulb and impaired fine odor discrimination in the Fmr1 KO mouse model of fragile X syndrome

P Kuruppath, L Xue, F Pouille, ST Jones…�- Journal of�…, 2023 - Soc Neuroscience
Fragile X syndrome (FXS) is the single most common monogenetic cause of autism
spectrum disorders (ASDs) in humans. FXS is caused by loss of expression of the fragile X�…

[HTML][HTML] Mutations in FUS lead to synaptic dysregulation in ALS-iPSC derived neurons

C Shum, EC Hedges, J Allison, Y Lee, N Arias…�- Stem Cell Reports, 2024 - cell.com
Amyotrophic lateral sclerosis (ALS) is a fatal, adult-onset neurodegenerative disorder
characterized by progressive muscular weakness due to the selective loss of motor neurons�…

[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�…