| CERKL-Associated Retinal Dystrophy: Genetics, Phenotype, and Natural History. | CERKL-Associated Retinal Dystrophy: Genetics, Phenotype, and Natural History.
Daich Varela M, Duignan ES, De Silva SR, Ba-Abbad R, Fujinami-Yokokawa Y, Leo S, Fujinami K, Mahroo OA, Robson AG, Webster AR, Michaelides M., Free PMC Article | 10/11/2023 |
| Genetic and Clinical Findings in an Ethnically Diverse Cohort with Retinitis Pigmentosa Associated with Pathogenic Variants in CERKL. | Genetic and Clinical Findings in an Ethnically Diverse Cohort with Retinitis Pigmentosa Associated with Pathogenic Variants in CERKL.
Downes SM, Nguyen T, Tai V, Broadgate S, Shah M, Al-Khuzaei S, MacLaren RE, Shanks M, Clouston P, Halford S., Free PMC Article | 07/24/2021 |
| CERKL mutation causing retinitis pigmentosa(RP) in Indian population - a genotype and phenotype correlation study. | CERKL mutation causing retinitis pigmentosa(RP) in Indian population - a genotype and phenotype correlation study.
Sen P, Maitra P, Natarajan S, Sripriya S, Mathavan S, Bhende M, Manchegowda PT. | 06/26/2021 |
| CERKL is an important regulator of autophagy and it plays this role by stabilizing the deacetylase SIRT1. | CERKL regulates autophagy via the NAD-dependent deacetylase SIRT1.
Hu X, Lu Z, Yu S, Reilly J, Liu F, Jia D, Qin Y, Han S, Liu X, Qu Z, Lv Y, Li J, Huang Y, Jiang T, Jia H, Wang Q, Liu J, Shu X, Tang Z, Liu M., Free PMC Article | 05/16/2020 |
| 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. | A founder mutation in CERKL is a major cause of retinal dystrophy in Finland.
Avela K, Sankila EM, Seitsonen S, Kuuluvainen L, Barton S, Gillies S, Aittomäki K. | 06/9/2018 |
| 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. | Rod-Cone Dystrophy with Initially Preserved Visual Acuity Despite Early Macular Involvement Suggests Recessive CERKL Mutations.
Khan AO, Abu-Safieh L. | 07/30/2016 |
| pVHL interacts with CERKL and ubiquitinates it for oxygen dependent proteasomal degradation. | pVHL interacts with Ceramide kinase like (CERKL) protein and ubiquitinates it for oxygen dependent proteasomal degradation.
Chen J, Liu F, Li H, Archacki S, Gao M, Liu Y, Liao S, Huang M, Wang J, Yu S, Li C, Tang Z, Liu M. | 07/2/2016 |
| CERKL interacts with TRX2 and plays a novel key role in the regulation of the TRX2 antioxidant pathway. | CERKL interacts with mitochondrial TRX2 and protects retinal cells from oxidative stress-induced apoptosis.
Li C, Wang L, Zhang J, Huang M, Wong F, Liu X, Liu F, Cui X, Yang G, Chen J, Liu Y, Wang J, Liao S, Gao M, Hu X, Shu X, Wang Q, Yin Z, Tang Z, Liu M. | 07/26/2014 |
| 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. | High transcriptional complexity of the retinitis pigmentosa CERKL gene in human and mouse.
Garanto A, Riera M, Pomares E, Permanyer J, de Castro-Miró M, Sava F, Abril JF, Marfany G, Gonzàlez-Duarte R. | 09/17/2011 |
| Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator) | Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
Bailey SD, Xie C, Do R, Montpetit A, Diaz R, Mohan V, Keavney B, Yusuf S, Gerstein HC, Engert JC, Anand S, DREAM investigators., Free PMC Article | 09/15/2010 |
| Observational study of genetic testing. (HuGE Navigator) | See all PubMed (2) articlesSimultaneous mutation detection in 90 retinal disease genes in multiple patients using a custom-designed 300-kb retinal resequencing chip.
Booij JC, Bakker A, Kulumbetova J, Moutaoukil Y, Smeets B, Verheij J, Kroes HY, Klaver CC, van Schooneveld M, Bergen AA, Florijn RJ. Development of a diagnostic genetic test for simplex and autosomal recessive retinitis pigmentosa.
Clark GR, Crowe P, Muszynska D, O'Prey D, O'Neill J, Alexander S, Willoughby CE, McKay GJ, Silvestri G, Simpson DA. | 09/15/2010 |
| Observational study of gene-disease association. (HuGE Navigator) | See all PubMed (2) articlesAn approach based on a genome-wide association study reveals candidate loci for narcolepsy.
Shimada M, Miyagawa T, Kawashima M, Tanaka S, Honda Y, Honda M, Tokunaga K. Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
Talmud PJ, Drenos F, Shah S, Shah T, Palmen J, Verzilli C, Gaunt TR, Pallas J, Lovering R, Li K, Casas JP, Sofat R, Kumari M, Rodriguez S, Johnson T, Newhouse SJ, Dominiczak A, Samani NJ, Caulfield M, Sever P, Stanton A, Shields DC, Padmanabhan S, Melander O, Hastie C, Delles C, Ebrahim S, Marmot MG, Smith GD, Lawlor DA, Munroe PB, Day IN, Kivimaki M, Whittaker J, Humphries SE, Hingorani AD, ASCOT investigators, NORDIL investigators, BRIGHT Consortium. | 09/15/2010 |
| Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator) | Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
Rose JE, Behm FM, Drgon T, Johnson C, Uhl GR., Free PMC Article | 06/30/2010 |
| CERKL mutations are associated with widespread retinal degeneration with prominent maculopathy. | CERKL mutations cause an autosomal recessive cone-rod dystrophy with inner retinopathy.
Aleman TS, Soumittra N, Cideciyan AV, Sumaroka AM, Ramprasad VL, Herrera W, Windsor EA, Schwartz SB, Russell RC, Roman AJ, Inglehearn CF, Kumaramanickavel G, Stone EM, Fishman GA, Jacobson SG. | 01/21/2010 |
| Clinical trial and genome-wide association study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator) | Molecular genetics of successful smoking cessation: convergent genome-wide association study results.
Uhl GR, Liu QR, Drgon T, Johnson C, Walther D, Rose JE, David SP, Niaura R, Lerman C., Free PMC Article | 12/2/2009 |
| 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. | 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, Schanzer A, Graf C, Mechtcheriakova D, Jaritz M, Bornancin F. | 01/21/2010 |
| Our data indicate that compound heterozygous mutations of CERKL can cause RP. | Novel compound heterozygous mutations in CERKL cause autosomal recessive retinitis pigmentosa in a nonconsanguineous Chinese family.
Tang Z, Wang Z, Wang Z, Ke T, Wang QK, Liu M. | 01/21/2010 |
| Retinitis pigmentosa gene ceramide kinase-like (CERKL) was analyzed to determine CERKL function and contribution to pathogenesis. | Overexpression of CERKL, a gene responsible for retinitis pigmentosa in humans, protects cells from apoptosis induced by oxidative stress.
Tuson M, Garanto A, Gonzàlez-Duarte R, Marfany G., Free PMC Article | 01/21/2010 |
| 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. | A missense mutation in the nuclear localization signal sequence of CERKL (p.R106S) causes autosomal recessive retinal degeneration.
Ali M, Ramprasad VL, Soumittra N, Mohamed MD, Jafri H, Rashid Y, Danciger M, McKibbin M, Kumaramanickavel G, Inglehearn CF., Free PMC Article | 01/21/2010 |
| 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. | CERKL mutations and associated phenotypes in seven Spanish families with autosomal recessive retinitis pigmentosa.
Avila-Fernandez A, Riveiro-Alvarez R, Vallespin E, Wilke R, Tapias I, Cantalapiedra D, Aguirre-Lamban J, Gimenez A, Trujillo-Tiebas MJ, Ayuso C. | 01/21/2010 |
| Genome-wide association study of gene-disease association. (HuGE Navigator) | Whole genome association study identifies polymorphisms associated with QT prolongation during iloperidone treatment of schizophrenia.
Volpi S, Heaton C, Mack K, Hamilton JB, Lannan R, Wolfgang CD, Licamele L, Polymeropoulos MH, Lavedan C. | 06/11/2008 |
| 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. | A common founder mutation of CERKL underlies autosomal recessive retinal degeneration with early macular involvement among Yemenite Jews.
Auslender N, Sharon D, Abbasi AH, Garzozi HJ, Banin E, Ben-Yosef T. | 01/21/2010 |
| Identification of a nuclear localization signal that might be responsible for nucleolar retention of CERKL. | Identification of a nuclear localization signal in the retinitis pigmentosa-mutated RP26 protein, ceramide kinase-like protein.
Inagaki Y, Mitsutake S, Igarashi Y. | 01/21/2010 |
| Data suggest a functional link between CERKL, a new ceramide kinase homolog, and its nucleolar localization. | Characterization of a ceramide kinase-like protein.
Bornancin F, Mechtcheriakova D, Stora S, Graf C, Wlachos A, Dévay P, Urtz N, Baumruker T, Billich A. | 01/21/2010 |
| Novel mutation in CERKL which encompassed 13 exons is identified in retinitis pigmentosa | Mutation of CERKL, a novel human ceramide kinase gene, causes autosomal recessive retinitis pigmentosa (RP26).
Tuson M, Marfany G, Gonzàlez-Duarte R., Free PMC Article | 01/21/2010 |