Advances in understanding of Rett syndrome and MECP2 duplication syndrome: prospects for future therapies

AJ Sandweiss, VL Brandt, HY Zoghbi - The Lancet Neurology, 2020 - thelancet.com
The X-linked gene encoding MECP2 is involved in two severe and complex
neurodevelopmental disorders. Loss of function of the MeCP2 protein underlies Rett …

[HTML][HTML] GABAergic system dysfunction in autism spectrum disorders

H Zhao, X Mao, C Zhu, X Zou, F Peng… - Frontiers in cell and …, 2022 - frontiersin.org
Autism spectrum disorder (ASD) refers to a series of neurodevelopmental diseases
characterized by two hallmark symptoms, social communication deficits and repetitive …

[HTML][HTML] The emerging role of chromatin remodelers in neurodevelopmental disorders: a developmental perspective

B Mossink, M Negwer, D Schubert… - Cellular and Molecular …, 2021 - Springer
Neurodevelopmental disorders (NDDs), including intellectual disability (ID) and autism
spectrum disorders (ASD), are a large group of disorders in which early insults during brain …

Formation and remodeling of the brain extracellular matrix in neural plasticity: Roles of chondroitin sulfate and hyaluronan

S Miyata, H Kitagawa - Biochimica et Biophysica Acta (BBA)-General …, 2017 - Elsevier
Background The extracellular matrix (ECM) of the brain is rich in glycosaminoglycans such
as chondroitin sulfate (CS) and hyaluronan. These glycosaminoglycans are organized into …

[图书][B] The parental brain: mechanisms, development, and evolution

M Numan - 2020 - books.google.com
The Parental Brain: Mechanisms, Development, and Evolution presents a comprehensive
analysis of how the brain regulates parental behavior in nonhuman animals and in humans …

Pharmacological reversal of synaptic and network pathology in human MECP2‐KO neurons and cortical organoids

CA Trujillo, JW Adams, PD Negraes… - EMBO Molecular …, 2021 - embopress.org
Duplication or deficiency of the X‐linked MECP2 gene reliably produces profound
neurodevelopmental impairment. MECP2 mutations are almost universally responsible for …

Towards a better diagnosis and treatment of Rett syndrome: a model synaptic disorder

A Banerjee, MT Miller, K Li, M Sur, WE Kaufmann - Brain, 2019 - academic.oup.com
With the recent 50th anniversary of the first publication on Rett syndrome, and the almost 20
years since the first report on the link between Rett syndrome and MECP2 mutations, it is …

[HTML][HTML] Perineuronal net degradation rescues CA2 plasticity in a mouse model of Rett syndrome

KE Carstens, DJ Lustberg… - The Journal of …, 2021 - Am Soc Clin Investig
Perineuronal nets (PNNs), a specialized form of extracellular matrix, are abnormal in the
brains of people with Rett syndrome (RTT). We previously reported that PNNs function to …

[HTML][HTML] A dopaminergic reward prediction error signal shapes maternal behavior in mice

Y Xie, L Huang, A Corona, AH Pagliaro, SD Shea - Neuron, 2023 - cell.com
How social contact is perceived as rewarding and subsequently modifies interactions is
unclear. Dopamine (DA) from the ventral tegmental area (VTA) regulates sociality, but the …

[HTML][HTML] Parvalbumin-positive interneurons regulate cortical sensory plasticity in adulthood and development through shared mechanisms

DD Rupert, SD Shea - Frontiers in Neural Circuits, 2022 - frontiersin.org
Parvalbumin-positive neurons are the largest class of GABAergic, inhibitory neurons in the
central nervous system. In the cortex, these fast-spiking cells provide feedforward and …