Revisiting the expression of BDNF and its receptors in mammalian development
EE Esvald, J Tuvikene, CS Kiir, A Avarlaid… - Frontiers in Molecular …, 2023 - frontiersin.org
Brain-derived neurotrophic factor (BDNF) promotes the survival and functioning of neurons
in the central nervous system and contributes to proper functioning of many non-neural …
in the central nervous system and contributes to proper functioning of many non-neural …
Endosomal dysfunction contributes to cerebellar deficits in spinocerebellar ataxia type 6
Abstract Spinocerebellar ataxia type 6 (SCA6) is a rare disease that is characterized by
cerebellar dysfunction. Patients have progressive motor coordination impairment, and …
cerebellar dysfunction. Patients have progressive motor coordination impairment, and …
Differential regulation of the BDNF gene in cortical and hippocampal neurons
EE Esvald, J Tuvikene, A Moistus… - Journal of …, 2022 - Soc Neuroscience
Brain-derived neurotrophic factor (BDNF) is a widely expressed neurotrophin that supports
the survival, differentiation, and signaling of various neuronal populations. Although it has …
the survival, differentiation, and signaling of various neuronal populations. Although it has …
Smith–Magenis syndrome protein RAI1 regulates body weight homeostasis through hypothalamic BDNF-producing neurons and neurotrophin downstream signalling
S Javed, YT Chang, Y Cho, YJ Lee, HC Chang… - Elife, 2023 - elifesciences.org
Abstract Retinoic acid-induced 1 (RAI1) haploinsufficiency causes Smith–Magenis
syndrome (SMS), a genetic disorder with symptoms including hyperphagia, hyperlipidemia …
syndrome (SMS), a genetic disorder with symptoms including hyperphagia, hyperlipidemia …
Loss of Rai1 enhances hippocampal excitability and epileptogenesis in mouse models of Smith–Magenis syndrome
YT Chang, M Kowalczyk… - Proceedings of the …, 2022 - National Acad Sciences
Hyperexcitability of brain circuits is a common feature of autism spectrum disorders (ASDs).
Genetic deletion of a chromatin-binding protein, retinoic acid induced 1 (RAI1), causes …
Genetic deletion of a chromatin-binding protein, retinoic acid induced 1 (RAI1), causes …
rAAV-CRISPRa therapy corrects Rai1 haploinsufficiency and rescues selective disease features in Smith-Magenis syndrome mice
HC Chang, YJ Lee, S Javed, M Haque… - Journal of Biological …, 2023 - ASBMB
Haploinsufficiency in retinoic acid induced 1 (RAI1) causes Smith-Magenis syndrome
(SMS), a severe neurodevelopmental disorder characterized by neurocognitive deficits and …
(SMS), a severe neurodevelopmental disorder characterized by neurocognitive deficits and …
[HTML][HTML] Epigenetic Regulation and Neurodevelopmental Disorders: From MeCP2 to the TCF20/PHF14 Complex
G Dominguez, Y Wu, J Zhou - Genes, 2024 - mdpi.com
Background: Neurodevelopmental disorders (NDDs) affect approximately 15% of children
and adolescents worldwide. This group of disorders is often polygenic with varying risk …
and adolescents worldwide. This group of disorders is often polygenic with varying risk …
Relationships between food-related behaviors, obesity, and medication use in individuals with Smith-Magenis syndrome
Abstract Background Smith-Magenis syndrome (SMS) is a complex neurodevelopmental
disorder that includes obesity and food-seeking/satiety-related behaviors. Aims This study …
disorder that includes obesity and food-seeking/satiety-related behaviors. Aims This study …
Comparative analyses of the Smith− Magenis syndrome protein RAI1 in mice and common marmoset monkeys
YT Chang, YJ Lee, M Haque, HC Chang… - Journal of …, 2024 - Wiley Online Library
Abstract Retinoic acid‐induced 1 (RAI1) encodes a transcriptional regulator critical for brain
development and function. RAI1 haploinsufficiency in humans causes a syndromic autism …
development and function. RAI1 haploinsufficiency in humans causes a syndromic autism …
TSC2-mTORC1 axis regulates morphogenesis and neurological function of Gli1+ adult-born dentate granule cells
M Kowalczyk, YJ Lee, WH Huang - Molecular Biology of the Cell, 2025 - molbiolcell.org
Aberrant adult hippocampal neurogenesis is implicated in neurological and mood disorders
associated with dysregulation of the mechanistic target of rapamycin (mTOR) …
associated with dysregulation of the mechanistic target of rapamycin (mTOR) …