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Keywords: neurodevelopmental disorders
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Articles
Journal:
Biochemical Society Transactions
Biochem Soc Trans (2024) 52 (5): 2047–2058.
Published: 02 September 2024
... partners to regulate synaptic maturation and efficacy [ 36 , 37 ]. GABA glutamate mouse models neurodevelopmental disorders neuroimaging serotonin Autism spectrum disorders (ASD) are a heterogenous set of syndromes characterised by social impairments and communication deficits, often...
Articles
Journal:
Biochemical Society Transactions
Biochem Soc Trans (2024) 52 (3): 1159–1171.
Published: 08 May 2024
... that undergo retrotransposition by replicating and inserting into the genome via an RNA intermediate, in a ‘copy-and-paste' manner. LINE-1 neurodevelopment neurodevelopmental disorders retrotransposon © 2024 The Author(s) 2024 This is an open access article published by Portland Press...
Articles
Journal:
Biochemical Society Transactions
Biochem Soc Trans (2024) 52 (1): 15–27.
Published: 30 January 2024
.... I endeavour to highlight some of the critical questions that still require careful and concerted attention over the next decade to bring us closer to the goal of understanding the salient mechanisms whereby CHD8 deficiency causes neurodevelopmental disorders. Table 1. CHD8-interacting proteins...
Articles
Journal:
Biochemical Society Transactions
Biochem Soc Trans (2023) 51 (2): 703–713.
Published: 16 March 2023
... 2 2023 22 2 2023 © 2023 The Author(s). Published by Portland Press Limited on behalf of the Biochemical Society 2023 activity-regulated gene expression chromatin neurodevelopmental disorders Chromatin regulators have emerged as a major genetic contributor...
Articles
Nicole J. Van Bergen, Sean Massey, Anita Quigley, Ben Rollo, Alexander R. Harris, Robert M.I. Kapsa, John Christodoulou
Journal:
Biochemical Society Transactions
Biochem Soc Trans (2022) 50 (4): 1207–1224.
Published: 23 August 2022
... and distributed under the Creative Commons Attribution License 4.0 (CC BY) . CDKL5 deficiency disorder kinase neurodevelopmental disorders phosphorylation CDKL5 deficiency disorder (CDD) is a neurodevelopmental encephalopathy, characterized by early onset, refractory seizures and gross...
Articles
Iris Verbinnen, Pieter Vaneynde, Sara Reynhout, Lisa Lenaerts, Rita Derua, Gunnar Houge, Veerle Janssens
Journal:
Biochemical Society Transactions
Biochem Soc Trans (2021) 49 (4): 1567–1588.
Published: 09 July 2021
... signalling and physiology, including in brain function and development. Here, we review current knowledge on PP2A gene mutations causally involved in neurodevelopmental disorders and intellectual disability, focusing on PPP2CA , PPP2R1A and PPP2R5D . We provide insights into the impact of these mutations...
Articles
Journal:
Biochemical Society Transactions
Biochem Soc Trans (2020) 48 (3): 1199–1211.
Published: 15 May 2020
... in language and motor skills, as seen in many neurodevelopmental disorders (NDD). Recent widespread high-throughput approaches that utilize whole-exome sequencing or whole-genome sequencing have allowed for a considerable increase in the identification of these pathogenic variants in monogenic forms of ID...