CERKL Antibody

1. Our report indicates that the first diagnostic test for Finnish patients with sporadic or autosomal recessive retinal dystrophy should be a targeted test for founder mutations in the CERKL. PMID: 29068140
2. The initial presenting features of CERKL-related retinopathy are distinct and unusual. Recognition of this initial presenting phenotype can facilitate earlier molecular diagnosis and genetic counseling. PMID: 24547929
3. pVHL interacts with CERKL and ubiquitinates it for oxygen dependent proteasomal degradation. PMID: 26296657
4. CERKL interacts with TRX2 and plays a novel key role in the regulation of the TRX2 antioxidant pathway. PMID: 24735978
5. An unexpected multiplicity of CERKL transcriptional start sites (four in each species) plus a high variety of alternative splicing events primarily affecting the 5' half of the gene generate >20 fully validated mRNA isoforms in human and 23 in mouse. PMID: 21508105
6. Observational study of genetic testing. (HuGE Navigator) PMID: 20801516
7. Observational study of gene-disease association. (HuGE Navigator) PMID: 19913121
8. Observational study of genetic testing. (HuGE Navigator) PMID: 20591486
9. Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator) PMID: 20628086
10. Observational study of gene-disease association. (HuGE Navigator) PMID: 20677014
11. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator) PMID: 20379614
12. Novel mutation in CERKL which encompassed 13 exons is identified in retinitis pigmentosa PMID: 14681825
13. Data suggest a functional link between CERKL, a new ceramide kinase homolog, and its nucleolar localization. PMID: 15708351
14. Identification of a nuclear localization signal that might be responsible for nucleolar retention of CERKL. PMID: 16581028
15. c.238+1G>A is the second reported mutation of CERKL and is a prevalent founder mutation that underlies approximately 33% of autosomal recessive retinal degeneration cases in the Yemenite Jewish population. PMID: 18055789
16. This study presents the first genotype-phenotype correlation for persons carrying p.Arg257ter mutation and provides clues for a characteristic phenotype of these mutations among persons with autosomal recessive cases. PMID: 18515597
17. This is the third reported mutation in CERKL causing retinal degeneration but is the first report to show that a single amino acid change in CERKL, rather than a null mutation, can cause retinal disease. PMID: 18978954
18. Retinitis pigmentosa gene ceramide kinase-like (CERKL) was analyzed to determine CERKL function and contribution to pathogenesis. PMID: 19158957
19. The Pleckstrin Homology (PH) domain of CERK, which is required for Golgi complex localization, can substitute for the N-terminal region of CERKL and allow for wild-type CERKL localization, which is typified by nucleolar accumulation. PMID: 19501188
20. CERKL mutations are associated with widespread retinal degeneration with prominent maculopathy. PMID: 19578027
21. Our data indicate that compound heterozygous mutations of CERKL can cause RP. PMID: 19667359
22. Clinical trial and genome-wide association study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator) PMID: 18519826
23. Genome-wide association study of gene-disease association. (HuGE Navigator) PMID: 18521091

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HGNC: 21699

OMIM: 608380

KEGG: hsa:375298

STRING: 9606.ENSP00000341159

UniGene: Hs.732358