Researchers have developed a novel mouse model that replicates severe geleophysic dysplasia, including short stature, heart valve alterations, and early lethality—characteristics of this rare disease. The findings from the study in The American Journal of Pathology, published by Elsevier, provide a basis for the identification of molecular mechanisms underlying geleophysic dysplasia, which can then be targeted for therapeutic purposes.

Cold Spring Harbor Laboratory Professor Hiro Furukawa, postdoc Ruben Steigerwald, and colleagues have demonstrated for the first time how NMDARs distinguish calcium from magnesium. Their work provides new insights into the key molecular features of learning and memory and could have important implications for brain development and disease.