Members
Gholson Lyon MD PhD
Position: Principal Investigator Cold Spring Harbor Laboratory
Areas of Interest: Developmental Biology, Genetics
Country: United States
Email: gholsonjlyon@gmail.com </br>Lab Website: http://lyonlab.labsites.cshl.edu/
Areas of Interest: Developmental Biology, Genetics
Research focus:
My laboratory discovered a rare X-linked, infantile lethal Mendelian
disorder, comprised of a distinct combination of brain ventricular
dilation, hypotonia, developmental delays, and cardiac anomalies. It
was the first recognized instance of a human genetic disorder
involving a missense mutation in Naa10, encoding an enzyme involved in
the N-terminal acetylation (NTA) of proteins. Other families have also
now been reported with different mutations in Naa10 and variable
amounts of brain ventricular dilation and/or frank hydrocephaly. We
have also now generated several novel mouse models of this disease,
which also develop hydrocephaly, thus re-capitulating the human
phenotype.
