From neural development to cognition: unexpected roles for chromatin
TLDR
Interestingly, mutations in EZH2 and certain BAF complex components have roles in both neurodevelopmental disorders and cancer, and overlapping point mutations are suggesting functionally important residues and domains.Abstract:
Recent genome-sequencing studies in human neurodevelopmental and psychiatric disorders have revealed mutations in chromatin-modifying enzymes, such as chromatin remodellers and histone-modifying enzymes. Such studies are improving our understanding of the roles of these modifiers in human neurodevelopment, and this article discusses the emerging roles for several of these enzymes in development and disease.read more
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Journal ArticleDOI
TDP-43 Promotes Neurodegeneration by Impairing Chromatin Remodeling
Amit Berson,Ashley Sartoris,Raffaella Nativio,Vivianna M. Van Deerlin,Jon B. Toledo,Sílvia Porta,Shichong Liu,Chia Yu Chung,Benjamin A. Garcia,Virginia M.-Y. Lee,John Q. Trojanowski,F. Brad Johnson,Shelley L. Berger,Nancy M. Bonini +13 more
TL;DR: It is found that TDP-43-mediated neurodegeneration causes impaired chromatin dynamics that prevents appropriate expression of protective genes through compromised function of the chromatin remodeler Chd1/CHD2.
Journal ArticleDOI
Activity-dependent synaptic plasticity modulates the critical phase of brain development
TL;DR: The role of different forms of activity during the development of the nervous system in modifying synaptic plasticity necessary for shaping the adult brain is discussed and various factors involved in altering the synaptic Plasticity in positive and negative way are explored.
Journal ArticleDOI
Brief Report: SETD2 Mutation in a Child with Autism, Intellectual Disabilities and Epilepsy
TL;DR: A 17-year-old girl with ASD, developmental delay, ID, seizures, Chiari I malformation, macrocephaly, and short stature is found by WES to have a de novo c.2028delT (P677LfsX19) mutation in the SET domain-containing protein 2 (SETD2) gene, predicted to be gene-damaging.
Journal ArticleDOI
MYT1L mutations cause intellectual disability and variable obesity by dysregulating gene expression and development of the neuroendocrine hypothalamus.
Patricia Blanchet,Martina Bebin,Shaam Bruet,Gregory M. Cooper,Michelle L. Thompson,Benedicte Duban-Bedu,Bénédicte Gérard,Amélie Piton,Sylvie Suckno,Charu Deshpande,Virginia Clowes,Julie Vogt,Peter D. Turnpenny,Michael P. Williamson,Yves Alembik,Eric Glasgow,Alisdair McNeill,Alisdair McNeill +17 more
TL;DR: It is demonstrated that MYT1L variants are associated with syndromic obesity in humans and the mechanism is related to dysregulated expression of neurodevelopmental genes and altered development of the neuroendocrine hypothalamus.
Journal ArticleDOI
The roles and regulation of Polycomb complexes in neural development
Matthew Corley,Kristen L. Kroll +1 more
TL;DR: The distinct roles that Polycomb repressive complexes play during neurogenesis and gliogenesis are reviewed, while also highlighting recent work describing the molecular mechanisms that govern their dynamic activity in neural development.
References
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