Associated Papers
Ligand distances as key predictors of pathogenicity and function in NMDA receptors.
Montanucci L et al.
Human Molecular Genetics, 2025
39535073 (PubMed )
Supplement: supplemental_table_s8_final_ddae156.xlsx › Suppl_Table_S8
Hodgkin-Huxley-Katz Prize Lecture: Genetic and pharmacological control of glutamate receptor channel through a highly conserved gating motif.
Perszyk RE et al.
The Journal of Physiology, 2020
NMDA receptor channel gating control by the pre-M1 helix.
McDaniel MJ et al.
The Journal of General Physiology, 2020
A conserved glycine harboring disease-associated mutations permits NMDA receptor slow deactivation and high Ca2+ permeability.
Amin JB et al.
Nature Communications, 2018
De novo mutations in GRIN1 cause extensive bilateral polymicrogyria.
Fry AE et al.
Brain : a Journal of Neurology, 2018
De novo GRIN1 mutations: An emerging cause of severe early infantile encephalopathy.
Zehavi Y et al.
European Journal of Medical Genetics, 2017
Novel homozygous missense variant of GRIN1 in two sibs with intellectual disability and autistic features without epilepsy.
Rossi M et al.
European Journal of Human Genetics : Ejhg, 2017
Delineating the GRIN1 phenotypic spectrum: A distinct genetic NMDA receptor encephalopathy.
Lemke JR et al.
Neurology, 2016
Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios.
Zhu X et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2015
Select a paper to view details