A developmental delay linked missense mutation in kalirin-7 disrupts protein function and neuronal morphology

HIGHLIGHTS

• who: Euan Parnell from the Universitu00e9 Lausanne, Switzerland University of La Laguna, Spain have published the paper: A developmental delay linked missense mutation in Kalirin-7 disrupts protein function and neuronal morphology, in the Journal: (JOURNAL)
• what: The authors show that a single point mutation within the Rac1-GEF PH domain of KALRN, found in a patient with developmental delay, results in loss of catalytic activity.
• how: The authors hypothesized that E1577K mutation may impair catalytic activity.

SUMMARY

GEFs interact with small GTPases to drive GDP for GTP exchange . . .

 



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