Article

Mutations in CalDAG-GEFI Lead to Striatal Signaling Deficits and Psychomotor Symptoms in Multiple Species Including Human

2019-07-22

Abstract excerpt

<h4>SUMMARY</h4> Syndromes caused by mutations in Ras-MAP kinase signaling molecules are known as RASopathies and share features such as developmental delay, autistic traits, and cancer. Syndromic features of Rap-MAP kinase signaling defects remain undefined. CalDAG-GEFI is a calcium-responsive Rap-GTPase activator that is enriched in the matrix of the sensorimotor striatum and down-regulated in Huntington’s dise...

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Literature Corpus work: fc56985c-3dc7-5a1c-b687-87fd48a40593
DOI: 10.1101/709246

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