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Retinitis Pigmentosa: Genes and Disease Mechanisms
Francesco Parmeggiani, Francesco S. Sorrentino, Diego Ponzin, Vanessa Barbaro, Stefano Ferrari, Enzo Di Iorio 2011
Current Genomics
doi:10.2174/138920211795860107
pmcid:PMC3131731
pmid:22131869
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[2]
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A missense mutation in the nuclear localization signal sequence of CERKL (p.R106S) causes autosomal recessive retinal degeneration
Manir Ali, Vedam Lakshmi Ramprasad, Nagasamy Soumittra, Moin D Mohamed, Hussain Jafri, Yasmin Rashid, Michael Danciger, Martin McKibbin (+ more) 2008
Molecular Vision
pmcid:PMC2576480
pmid:18978954
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Defects in the cerebella of conditional Neurod1 null mice correlate with effective Tg(Atoh1-cre) recombination and granule cell requirements for Neurod1 for differentiation
Ning Pan, Israt Jahan, Jacqueline E. Lee, Bernd Fritzsch 2009
Cell and Tissue Research
doi:10.1007/s00441-009-0826-6
pmcid:PMC3023111
pmid:19609565
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Characterization of a ceramide kinase-like protein
Frédéric Bornancin, Diana Mechtcheriakova, Samantha Stora, Christine Graf, Alexander Wlachos, Piroska Dévay, Nicole Urtz, Thomas Baumruker (+ more) 2005
Biochimica et Biophysica Acta - Molecular and Cell Biology of Lipids
doi:10.1016/j.bbalip.2004.11.012
pmid:15708351
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Genetic Ablation of Cone Photoreceptors Eliminates Retinal Folds in theRetinal Degeneration 7 (rd7) Mouse
Jichao Chen, Jeremy Nathans 2007
Investigative Ophthalmology and Visual Science
doi:10.1167/iovs.06-0922
pmid:17525215
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High Transcriptional Complexity of the Retinitis PigmentosaCERKLGene in Human and Mouse
Alejandro Garanto, Marina Riera, Esther Pomares, Jon Permanyer, Marta de Castro-Miró, Florentina Sava, Josep F. Abril, Gemma Marfany (+ more) 2011
Investigative Ophthalmology and Visual Science
doi:10.1167/iovs.10-7101
pmid:21508105
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[7]
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CERKL Knockdown Causes Retinal Degeneration in Zebrafish
Marina Riera, Demian Burguera, Jordi Garcia-Fernàndez, Roser Gonzàlez-Duarte, Hector Escriva 2013
PLoS ONE
doi:10.1371/journal.pone.0064048
pmcid:PMC3650063
pmid:23671706
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Diversity of ganglion cells in the mouse retina: Unsupervised morphological classification and its limits
Jee-Hyun Kong, Daniel R. Fish, Rebecca L. Rockhill, Richard H. Masland 2005
Journal of Comparative Neurology
doi:10.1002/cne.20631
pmid:16025455
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Large-scale morphological survey of mouse retinal ganglion cells
Wenzhi Sun, Ning Li, Shigang He 2002
Journal of Comparative Neurology
doi:10.1002/cne.10323
pmid:12209831
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Imaging Neuronal Subsets in Transgenic Mice Expressing Multiple Spectral Variants of GFP
Guoping Feng, Rebecca H. Mellor, Michael Bernstein, Cynthia Keller-Peck, Quyen T. Nguyen, Mia Wallace, Jeanne M. Nerbonne, Jeff W. Lichtman (+ more) 2000
Neuron
doi:10.1016/s0896-6273(00)00084-2
pmid:11086982
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A Common Founder Mutation ofCERKLUnderlies Autosomal Recessive Retinal Degeneration with Early Macular Involvement among Yemenite Jews
Noa Auslender, Dror Sharon, Anan H. Abbasi, Hanna J. Garzozi, Eyal Banin, Tamar Ben-Yosef 2007
Investigative Ophthalmology and Visual Science
doi:10.1167/iovs.07-0736
pmid:18055789
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[12]
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Targeted knockdown of Cerkl, a retinal dystrophy gene, causes mild affectation of the retinal ganglion cell layer
Alejandro Garanto, Javier Vicente-Tejedor, Marina Riera, Pedro de la Villa, Roser Gonzàlez-Duarte, Román Blanco, Gemma Marfany 2012
Biochimica et Biophysica Acta - Molecular Basis of Disease
doi:10.1016/j.bbadis.2012.04.004
pmid:22549043
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Epidemiology of retinitis pigmentosa in Denmark
Marianne Haim 2002
Acta ophthalmologica Scandinavica. Supplement
pmid:11921605
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[14]
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CERKL regulates autophagy via the NAD-dependent deacetylase SIRT1
Xuebin Hu, Zhaojing Lu, Shanshan Yu, James Reilly, Fei Liu, Danna Jia, Yayun Qin, Shanshan Han (+ more) 2018
Autophagy
doi:10.1080/15548627.2018.1520548
pmcid:PMC6351130
pmid:30205735
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CERKLMutations and Associated Phenotypes in Seven Spanish Families with Autosomal Recessive Retinitis Pigmentosa
Almudena Avila-Fernandez, Rosa Riveiro-Alvarez, Elena Vallespin, Robert Wilke, Ignacio Tapias, Diego Cantalapiedra, Jana Aguirre-Lamban, Ascension Gimenez (+ more) 2008
Investigative Ophthalmology and Visual Science
doi:10.1167/iovs.07-0865
pmid:18515597
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[16]
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CERKL gene knockout disturbs photoreceptor outer segment phagocytosis and causes rod-cone dystrophy in zebrafish
Shanshan Yu, Chang Li, Lincoln Biswas, Xuebin Hu, Fei Liu, James Reilly, Xiliang Liu, Ying Liu (+ more) 2017
Human Molecular Genetics
doi:10.1093/hmg/ddx137
pmid:28398482
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[17]
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NeuroD1is required for survival of photoreceptors but not pinealocytes: Results from targeted gene deletion studies
Margaret J. Ochocinska, Estela M. Muñoz, Shobi Veleri, Joan L. Weller, Steven L. Coon, Nikita Pozdeyev, P. Michael Iuvone, Sandra Goebbels (+ more) 2012
Journal of Neurochemistry
doi:10.1111/j.1471-4159.2012.07870.x
pmcid:PMC3441145
pmid:22784109
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Making the gradient: Thyroid hormone regulates cone opsin expression in the developing mouse retina
M. R. Roberts, M. Srinivas, D. Forrest, G. Morreale de Escobar, T. A. Reh 2006
Proceedings of the National Academy of Sciences of the United States of America
doi:10.1073/pnas.0509981103
pmcid:PMC1458858
pmid:16606843
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[19]
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Overexpression of CERKL, a gene responsible for retinitis pigmentosa in humans, protects cells from apoptosis induced by oxidative stress
Miquel Tuson, Alejandro Garanto, Roser Gonzàlez-Duarte, Gemma Marfany 2009
Molecular Vision
pmcid:PMC2628313
pmid:19158957
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[20]
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Non-syndromic retinitis pigmentosa
Sanne K. Verbakel, Ramon A.C. van Huet, Camiel J.F. Boon, Anneke I. den Hollander, Rob W.J. Collin, Caroline C.W. Klaver, Carel B. Hoyng, Ronald Roepman (+ more) 2018
Progress in retinal and eye research
doi:10.1016/j.preteyeres.2018.03.005
pmid:29597005
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ISCEV Standard for full-field clinical electroretinography (2015 update)
Daphne L. McCulloch, Michael F. Marmor, Mitchell G. Brigell, Ruth Hamilton, Graham E. Holder, Radouil Tzekov, Michael Bach 2014
Documenta Ophthalmologica
doi:10.1007/s10633-014-9473-7
pmid:25502644
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Homozygosity Mapping in Patients with Cone–Rod Dystrophy: Novel Mutations and Clinical Characterizations
Karin W. Littink, Robert K. Koenekoop, L. Ingeborgh van den Born, Rob W. J. Collin, Luminita Moruz, Joris A. Veltman, Susanne Roosing, Marijke N. Zonneveld (+ more) 2010
Investigative Ophthalmology and Visual Science
doi:10.1167/iovs.10-5797
pmcid:PMC3061516
pmid:20554613
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Diabetes, defective pancreatic morphogenesis, and abnormal enteroendocrine differentiation in BETA2/NeuroD-deficient mice
F. J. Naya, H.-P. Huang, Y. Qiu, H. Mutoh, F. J. DeMayo, A. B. Leiter, M.-J. Tsai 1997
Genes & Development
doi:10.1101/gad.11.18.2323
pmcid:PMC316513
pmid:9308961
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Wild-type levels of ceramide and ceramide-1-phosphate in the retina of ceramide kinase-like-deficient mice
Christine Graf, Satoru Niwa, Matthias Müller, Bernd Kinzel, Frédéric Bornancin 2008
Biochemical and Biophysical Research Communications - BBRC
doi:10.1016/j.bbrc.2008.06.002
pmid:18555012
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[25]
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CERKLMutations Cause an Autosomal Recessive Cone-Rod Dystrophy with Inner Retinopathy
Tomas S. Aleman, Nagasamy Soumittra, Artur V. Cideciyan, Alexander M. Sumaroka, Vedam Lakshmi Ramprasad, Waldo Herrera, Elizabeth A. M. Windsor, Sharon B. Schwartz (+ more) 2009
Investigative Ophthalmology and Visual Science
doi:10.1167/iovs.09-3982
pmid:19578027
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Expanding the clinical and molecular heterogeneity of nonsyndromic inherited retinal dystrophies
Ana Rodríguez-Muñoz, Elena Aller, Teresa Jaijo, Emilio González-García, Ana Cabrera-Peset, Roberto Gallego-Pinazo, Patricia Udaondo, David Salom (+ more) 2020
Journal of Molecular Diagnostics
doi:10.1016/j.jmoldx.2020.01.003
pmid:32036094
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[27]
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CERKL, a Retinal Disease Gene, Encodes an mRNA-Binding Protein That Localizes in Compact and Untranslated mRNPs Associated with Microtubules
Alihamze Fathinajafabadi, Eva Pérez-Jiménez, Marina Riera, Erwin Knecht, Roser Gonzàlez-Duarte, Anand Swaroop 2014
PLoS ONE
doi:10.1371/journal.pone.0087898
pmcid:PMC3912138
pmid:24498393
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New insights on the role of ceramide 1-phosphate in inflammation
Antonio Gomez-Muñoz, Patricia Gangoiti, Lide Arana, Alberto Ouro, Io-Guané Rivera, Marta Ordoñez, Miguel Trueba 2013
Biochimica et Biophysica Acta - Molecular and Cell Biology of Lipids
doi:10.1016/j.bbalip.2013.02.001
pmid:23410840
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[29]
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Mutation of CERKL, a Novel Human Ceramide Kinase Gene, Causes Autosomal Recessive Retinitis Pigmentosa (RP26)
Miquel Tuson, Gemma Marfany, Roser Gonzàlez-Duarte 2004
American Journal of Human Genetics
doi:10.1086/381055
pmcid:PMC1181900
pmid:14681825
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Microglial-induced Müller cell gliosis is attenuated by progesterone in a mouse model of retinitis pigmentosa
Sarah L. Roche, Ana M. Ruiz-Lopez, Jennifer N. Moloney, Ashleigh M. Byrne, Thomas G. Cotter 2017
Glia
doi:10.1002/glia.23243
pmid:29034506
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