Channelopathies in fragile X syndrome
PY Deng, VA Klyachko - Nature Reviews Neuroscience, 2021 - nature.com
Fragile X syndrome (FXS) is the most common inherited form of intellectual disability and the
leading monogenic cause of autism. The condition stems from loss of fragile X mental …
leading monogenic cause of autism. The condition stems from loss of fragile X mental …
[HTML][HTML] Interneuron dysfunction and inhibitory deficits in autism and fragile X syndrome
T Nomura - Cells, 2021 - mdpi.com
The alteration of excitatory–inhibitory (E–I) balance has been implicated in various
neurological and psychiatric diseases, including autism spectrum disorder (ASD). Fragile X …
neurological and psychiatric diseases, including autism spectrum disorder (ASD). Fragile X …
[HTML][HTML] ATP synthase c-subunit leak causes aberrant cellular metabolism in fragile X syndrome
Loss of the gene (Fmr1) encoding Fragile X mental retardation protein (FMRP) causes
increased mRNA translation and aberrant synaptic development. We find neurons of the …
increased mRNA translation and aberrant synaptic development. We find neurons of the …
[HTML][HTML] Hyperexcitability and homeostasis in fragile X syndrome
Fragile X Syndrome (FXS) is a leading inherited cause of autism and intellectual disability,
resulting from a mutation in the FMR1 gene and subsequent loss of its protein product …
resulting from a mutation in the FMR1 gene and subsequent loss of its protein product …
Mechanisms underlying auditory processing deficits in Fragile X syndrome
EA McCullagh, SE Rotschafer, BD Auerbach… - The FASEB …, 2020 - Wiley Online Library
Autism spectrum disorders (ASD) are strongly associated with auditory hypersensitivity or
hyperacusis (difficulty tolerating sounds). Fragile X syndrome (FXS), the most common …
hyperacusis (difficulty tolerating sounds). Fragile X syndrome (FXS), the most common …
[HTML][HTML] Altered brain-wide auditory networks in a zebrafish model of fragile X syndrome
Background Loss or disrupted expression of the FMR1 gene causes fragile X syndrome
(FXS), the most common monogenetic form of autism in humans. Although disruptions in …
(FXS), the most common monogenetic form of autism in humans. Although disruptions in …
[HTML][HTML] Astroglial Kir4. 1 potassium channel deficit drives neuronal hyperexcitability and behavioral defects in Fragile X syndrome mouse model
D Bataveljic, H Pivonkova, V de Concini… - Nature …, 2024 - nature.com
Fragile X syndrome (FXS) is an inherited form of intellectual disability caused by the loss of
the mRNA-binding fragile X mental retardation protein (FMRP). FXS is characterized by …
the mRNA-binding fragile X mental retardation protein (FMRP). FXS is characterized by …
Audiogenic seizures in the Fmr1 knock-out mouse are induced by Fmr1 deletion in subcortical, VGlut2-expressing excitatory neurons and require deletion in the …
D Gonzalez, M Tomasek, S Hays, V Sridhar… - Journal of …, 2019 - Soc Neuroscience
Fragile X syndrome (FXS) is the most common form of inherited intellectual disability and the
leading monogenetic cause of autism. One symptom of FXS and autism is sensory …
leading monogenetic cause of autism. One symptom of FXS and autism is sensory …
[HTML][HTML] Efferent feedback controls bilateral auditory spontaneous activity
Y Wang, M Sanghvi, A Gribizis, Y Zhang, L Song… - Nature …, 2021 - nature.com
In the developing auditory system, spontaneous activity generated in the cochleae
propagates into the central nervous system to promote circuit formation. The effects of …
propagates into the central nervous system to promote circuit formation. The effects of …
[HTML][HTML] The binding and mechanism of a positive allosteric modulator of Kv3 channels
Q Liang, G Chi, L Cirqueira, L Zhi, A Marasco… - Nature …, 2024 - nature.com
Small-molecule modulators of diverse voltage-gated K+ (Kv) channels may help treat a wide
range of neurological disorders. However, developing effective modulators requires …
range of neurological disorders. However, developing effective modulators requires …