scholarly journals GRIN1 mutation associated with intellectual disability alters NMDA receptor trafficking and function

2017 ◽  
Vol 62 (6) ◽  
pp. 589-597 ◽  
Author(s):  
Wenjuan Chen ◽  
Christine Shieh ◽  
Sharon A Swanger ◽  
Anel Tankovic ◽  
Margaret Au ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
Nmda Receptor ◽  
Receptor Trafficking ◽  
And Function

Regulation of NMDA receptor trafficking and function by striatal-enriched tyrosine phosphatase (STEP)

2006 ◽  
Vol 23 (11) ◽  
pp. 2847-2856 ◽  
Author(s):  
Steven P. Braithwaite ◽  
Michael Adkisson ◽  
John Leung ◽  
Adrian Nava ◽  
Brett Masterson ◽  
...  
Keyword(s):  
Nmda Receptor ◽  
Tyrosine Phosphatase ◽  
Receptor Trafficking ◽  
And Function

Animal Models of Down Syndrome

2021 ◽  
Author(s):  
Anna J. Moyer ◽  
Roger H. Reeves
Keyword(s):  
Down Syndrome ◽  
Cognitive Impairment ◽  
Intellectual Disability ◽  
Animal Models ◽  
Brain Regions ◽  
Laboratory Mice ◽  
Tremendous Progress ◽  
New Treatments ◽  
And Function ◽  
Early Developmental

Is intellectual disability a treatable feature of persons with Down syndrome? Researchers have made tremendous progress in the last 30 years, from creating the first mouse model of Down syndrome to completing the first major clinical trial for cognitive impairment in people with Down syndrome. Until recently, normalizing brain development and function seemed too lofty a goal, and indeed, even proposing a candidate therapy requires answering a number of difficult questions. How does trisomy 21, a molecular diagnosis, cause the clinical phenotypes of Down syndrome? When, where, and how do trisomic genes act to disrupt normal development and which genes are involved with which outcomes? Which brain regions and behaviors are most impaired? Is there an early developmental window of time during which treatments are most effective? This article discusses how animal models such as laboratory mice can be used to understand intellectual disability and to develop new treatments for cognitive impairment.

scholarly journals An Epilepsy-Associated GRIN2A Rare Variant Disrupts CaMKIIα Phosphorylation of GluN2A and NMDA Receptor Trafficking

Cell Reports ◽  
2020 ◽  
Vol 32 (9) ◽  
pp. 108104
Author(s):  
Marta Mota Vieira ◽  
Thien A. Nguyen ◽  
Kunwei Wu ◽  
John D. Badger ◽  
Brett M. Collins ◽  
...  
Keyword(s):  
Nmda Receptor ◽  
Rare Variant ◽  
Receptor Trafficking
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