Rumping, Lynne

GLS hyperactivity causes glutamate excess, infantile cataract and profound developmental delay. [electronic resource] - Human molecular genetics 01 2019 - 96-104 p. digital

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

1460-2083

10.1093/hmg/ddy330 doi


Adolescent
Animals
Brain--metabolism
Cataract--genetics
Child, Preschool
Developmental Disabilities--genetics
Disease Models, Animal
Female
Fibroblasts
Gain of Function Mutation--genetics
Glutamate-Ammonia Ligase--genetics
Glutamic Acid--genetics
Glutaminase--genetics
Glutamine--metabolism
HEK293 Cells
Humans
Male
Oxidative Stress
Reactive Oxygen Species--metabolism
Zebrafish