Associated Papers
Clinician-Driven Reanalysis of Exome Sequencing Data From Patients With Inherited Retinal Diseases.
Surl D et al.
Jama Network Open, 2024
38819824 (PubMed )
Supplement: jamanetwopen-e2414198-s001.pdf
Genetic and Clinical Findings in an Ethnically Diverse Cohort with Retinitis Pigmentosa Associated with Pathogenic Variants in CERKL.
Downes SM et al.
Genes, 2020
A New Cerkl Mouse Model Generated by CRISPR-Cas9 Shows Progressive Retinal Degeneration and Altered Morphological and Electrophysiological Phenotype.
Domènech EB et al.
Investigative Ophthalmology & Visual Science, 2020
32658961 (PubMed )
Supplement: iovs-61-8-14_s001.pdf
A founder mutation in CERKL is a major cause of retinal dystrophy in Finland.
Avela K et al.
Acta Ophthalmologica, 2018
Subcellular localization of ceramide kinase and ceramide kinase-like protein requires interplay of their Pleckstrin Homology domain-containing N-terminal regions together with C-terminal domains.
Rovina P et al.
Biochimica Et Biophysica Acta, 2009
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