Synaptic dysfunction in neurodevelopmental disorders associated with autism and intellectual disabilities

HY Zoghbi, MF Bear�- Cold Spring Harbor perspectives�…, 2012 - cshperspectives.cshlp.org
The discovery of the genetic causes of syndromic autism spectrum disorders and intellectual
disabilities has greatly informed our understanding of the molecular pathways critical for …

Synapse dysfunction in autism: a molecular medicine approach to drug discovery in neurodevelopmental disorders

W Spooren, L Lindemann, A Ghosh…�- Trends in pharmacological�…, 2012 - cell.com
disorders require a more personalized treatment regimen. Many ASD risk factors are
genetic, implicating impaired synaptic development and function. Monogenetic disorders (eg, …

[HTML][HTML] Nanoscale synapse organization and dysfunction in neurodevelopmental disorders

HL Zieger, D Choquet�- Neurobiology of Disease, 2021 - Elsevier
… linked to synapse dysfunction can broadly be separated in three categories: disorders of
transcriptional regulation, disorders of synaptic signaling and disorders of synaptic scaffolding …

[HTML][HTML] The role of NMDA receptor and neuroligin rare variants in synaptic dysfunction underlying neurodevelopmental disorders

MM Vieira, J Jeong, KW Roche�- Current opinion in neurobiology, 2021 - Elsevier
… of synaptic dysfunction of … synapses. In this review, we focus on NMDARs (Table 1) and
NLGNs (Table 2), to explore mechanisms that converge on glutamatergic synaptic dysfunction. …

Synaptic dysfunction in neurodegenerative and neurodevelopmental diseases: an overview of induced pluripotent stem-cell-based disease models

E Taoufik, G Kouroupi, O Zygogianni…�- Open�…, 2018 - royalsocietypublishing.org
… suitable models for investigating alterations in individuals with neurodevelopmental
disorders [89]. Organoids have been used in the study of lissencephaly, a genetic neurological …

New insights on synaptic dysfunction in neuropsychiatric disorders

GL Caldeira, J Pe�a, AL Carvalho�- Current opinion in neurobiology, 2019 - Elsevier
… In a mouse model of Rett syndrome, a neurodevelopmental disorder caused by mutations
in MECP2, synapse engulfment by microglia was found to be excessive compared with control …

Glutamatergic synapses in neurodevelopmental disorders

E Moretto, L Murru, G Martano, J Sassone…�- Progress in Neuro�…, 2018 - Elsevier
disorders, which is not surprising considering their crucial role in … neurodevelopmental
disorders as a continuum of pathological manifestations, suggesting that glutamatergic synapses

[HTML][HTML] Synaptic genes and neurodevelopmental disorders: From molecular mechanisms to developmental strategies of behavioral testing

C Michetti, A Falace, F Benfenati, A Fassio�- Neurobiology of Disease, 2022 - Elsevier
… for NDDs, among which synaptic genes represent the most … by synaptic dysfunctions, here
we use the term Synaptopathies as the class of diseases caused by modifications in synaptic

Synaptopathies: synaptic dysfunction in neurological disorders–A review from students to students

K Lepeta, MV Lourenco, BC Schweitzer…�- Journal of�…, 2016 - Wiley Online Library
… , we will review central aspects of synapse dysfunction in prevalent neurodevelopmental
and neurodegenerative disorders. Synapse dysfunction in neurodevelopmental disorders

[HTML][HTML] Common ribs of inhibitory synaptic dysfunction in the umbrella of neurodevelopmental disorders

R Ali Rodriguez, C Joya, RM Hines�- Frontiers in molecular�…, 2018 - frontiersin.org
… Mounting evidence has shown a link to inhibitory synapse … We discuss common ribs of
inhibitory synapse dysfunction in … Increasing our basic understanding of inhibitory synapses, …