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Despite sustained efforts to treat neurodegenerative diseases, little is known at the
molecular level to understand and generate novel therapeutic approaches for these
malignancies. Therefore, it is not surprising that neurogenerative diseases are�…

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 represses FMR1 via local DNA methylation. Here, we find megabase�…

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 developing drugs. Precise monitoring of a drug's pharmacological�…

Abstract Fragile X Syndrome (FXS) is a neurodevelopment disorder characterized by
cognitive impairment, behavioral challenges, and synaptic abnormalities, with a
genetic basis linked to a mutation in the FMR1 (Fragile X Messenger�…

Autism spectrum disorder (ASD) has a multifactorial etiology. Major efforts are
underway to understand the neurobiological bases of ASD and to develop
efficacious treatment strategies. Recently, the use of cannabinoid compounds in�…

Introduction The neurodevelopmental disorder fragile X syndrome (FXS) is the most
common monogenic cause of intellectual disability associated with autism spectrum
disorder. Inaccessibility to developing human brain cells is a major barrier to�…

Synaptic dysfunction underlies many neurodevelopmental disorders (NDDs). The
membrane-associated mucin domain-containing glycosylphosphatidylinositol anchor
proteins (MDGAs) regulate synaptic development by modulating neurexin–neuroligin�…

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 mental retardation protein (FMRP), an mRNA-binding protein encoded on�…

Amyotrophic lateral sclerosis (ALS) is a fatal, adult-onset neurodegenerative disorder
characterized by progressive muscular weakness due to the selective loss of motor
neurons. Mutations in the gene Fused in Sarcoma (FUS) were identified as one�…

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 use human patient-derived induced pluripotent stem cells and Kdm5c�…