Ackerman, Susan L.

Ribosome stalling induced by mutation of a CNS-specific tRNA causes neurodegeneration

Ishimura, R., Nagy, G., Dotu, I., Zhou, H., Yang, X.-L., Schimmel, P., Senju, S., Nishimura, Y., Chuang, J. H., & Ackerman, S. L. (2014) · Science

RNA and protein synthesis mechanismsRNA modifications and cancer

Cited by 455

Ducky Mouse Phenotype of Epilepsy and Ataxia Is Associated with Mutations in the Cacna2d2 Gene and Decreased Calcium Channel Current in Cerebellar Purkinje Cells

Barclay, J., Balaguero, N., Mione, M., Ackerman, S. L., Letts, V. A., Brodbeck, J., Canti, C., Meir, A., Page, K. M., Kusumi, K., et al. (2001) · The Journal of Neuroscience

Ion channel regulation and functionEpilepsy research and treatment

Cited by 326

Activation of GCN2 kinase by ribosome stalling links translation elongation with translation initiation

Ishimura, R., Nagy, G., Dotu, I., Chuang, J. H., & Ackerman, S. L. (2016) · eLife

RNA and protein synthesis mechanismsEndoplasmic Reticulum Stress and Disease

Cited by 221

Mutation of a U2 snRNA Gene Causes Global Disruption of Alternative Splicing and Neurodegeneration

Jia, Y., Mu, J. C., & Ackerman, S. L. (2012) · Cell

RNA Research and SplicingAmyotrophic Lateral Sclerosis Research

Cited by 114

Cholesterol metabolism and Rett syndrome pathogenesis

Nagy, G., & Ackerman, S. L. (2013) · Nature Genetics

Genetics and Neurodevelopmental DisordersCholesterol and Lipid Metabolism

Cited by 19