Award
National Institute of Neurological Disorders and Stroke 5K00NS125690-05
Gene regulatory mechanisms governed by the ASXL1/HCF1/OGT complex during neurogenesis
Recipient
ST. JUDE CHILDREN'S RESEARCH HOSPITAL, Memphis, TN, United States
Award Amount
$103,215.00
Ceiling
$103,215.00
Awarded
June 18, 2026
Identifier
5K00NS125690-05
This award funds research to understand how mutations in the HCFC1 gene affect brain development and contribute to neurodevelopmental disorders, aiming to identify therapeutic targets.
Description
Mutation of HCFC1 causes a multiple congenital anomaly syndrome characterized by inborn errors of cobalamin metabolism, intractable epilepsy, intellectual disability, and motor dysfunction. The study investigates how mutations in HCFC1 affect brain development, focusing on neural precursor cell proliferation and related molecular pathways.