Publications by authors named "Jessica Malc"
Am J Med Genet A
January 2019
Article Synopsis
- Heterozygous loss-of-function mutations in the CASK gene are linked to mental retardation, microcephaly, and retinal disorders like optic nerve atrophy and hypoplasia.
- Research has shown that a specific missense mutation in the CASK protein leads to protein misfolding and reduced interactions with important binding partners, shedding light on its role in retinal health.
- The study highlights that the type of CASK mutation can result in varying retinal disorders, with affected individuals showing significant damage to rod photoreceptors, suggesting that the CaMK domain of CASK is crucial for retinal function.
