A New Cerkl Mouse Model Generated by CRISPR-Cas9 Shows Progressive Retinal Degeneration and Altered Morphological and Electrophysiological Phenotype release_efxgdml7crbdfmvggp6o323xzm

by Elena B. Domènech, Rosa Andrés, M. José López-Iniesta, Serena Mirra, Rocío García-Arroyo, Santiago Milla, Florentina Sava, Jordi Andilla, Pablo Loza-Álvarez, Pedro de la Villa, Roser Gonzàlez-Duarte, Gemma Marfany

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Showing 1 - 30 of 38 references (in 93ms)
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A Common Founder Mutation ofCERKLUnderlies Autosomal Recessive Retinal Degeneration with Early Macular Involvement among Yemenite Jews
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Targeted knockdown of Cerkl, a retinal dystrophy gene, causes mild affectation of the retinal ganglion cell layer
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CERKL regulates autophagy via the NAD-dependent deacetylase SIRT1
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CERKLMutations and Associated Phenotypes in Seven Spanish Families with Autosomal Recessive Retinitis Pigmentosa
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CERKL gene knockout disturbs photoreceptor outer segment phagocytosis and causes rod-cone dystrophy in zebrafish
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2017   Human Molecular Genetics
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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
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Diabetes, defective pancreatic morphogenesis, and abnormal enteroendocrine differentiation in BETA2/NeuroD-deficient mice
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Wild-type levels of ceramide and ceramide-1-phosphate in the retina of ceramide kinase-like-deficient mice
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CERKLMutations Cause an Autosomal Recessive Cone-Rod Dystrophy with Inner Retinopathy
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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
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Mutation of CERKL, a Novel Human Ceramide Kinase Gene, Causes Autosomal Recessive Retinitis Pigmentosa (RP26)
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Showing 1 - 30 of 38 references  next »