0000000000056338

AUTHOR

Irma Lopez

showing 2 related works from this author

TOPORS, implicated in retinal degeneration, is a cilia-centrosomal protein.

2011

et al.

Retinal degenerationUbiquitin-Protein LigasesBiologymedicine.disease_causeRetinaCell Line03 medical and health scienceschemistry.chemical_compoundMiceNuclear proteins0302 clinical medicineIntraflagellar transportGeneticsmedicineBasal bodyAnimalsHumansPhotoreceptor CellsCiliaMolecular BiologyZebrafishGenetics (clinical)Cells CulturedZebrafish030304 developmental biologyCentrosome0303 health sciencesRetinaMutationUbiquitinCiliumRetinal DegenerationNuclear ProteinsRetinalTOPORS proteinGeneral MedicineArticlesmedicine.diseasebiology.organism_classification3. Good healthCell biologyNeoplasm ProteinsProtein Transportmedicine.anatomical_structurechemistryNeoplasm proteinssense organs030217 neurology & neurosurgeryHuman molecular genetics
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Mutations in LCA5, encoding the ciliary protein lebercilin, cause Leber congenital amaurosis

2007

Contains fulltext : 53618.pdf (Publisher’s version ) (Closed access) Leber congenital amaurosis (LCA) causes blindness or severe visual impairment at or within a few months of birth. Here we show, using homozygosity mapping, that the LCA5 gene on chromosome 6q14, which encodes the previously unknown ciliary protein lebercilin, is associated with this disease. We detected homozygous nonsense and frameshift mutations in LCA5 in five families affected with LCA. In a sixth family, the LCA5 transcript was completely absent. LCA5 is expressed widely throughout development, although the phenotype in affected individuals is limited to the eye. Lebercilin localizes to the connecting cilia of photore…

MaleCandidate geneGenetics and epigenetic pathways of disease [NCMLS 6]genetic structuresMolecular Sequence DataOptic Atrophy Hereditary LeberNeuroinformatics [DCN 3]Biologymedicine.disease_causeCiliopathiesJoubert syndromeCell LineFrameshift mutationGenomic disorders and inherited multi-system disorders [IGMD 3]MiceTranslational research [ONCOL 3]Chlorocebus aethiopsPerception and Action [DCN 1]GeneticsmedicineNeurosensory disorders [UMCN 3.3]AnimalsHumansCiliaRats WistarEye ProteinsFrameshift MutationRenal disorder [IGMD 9]GeneticsMutationCiliumDisease gene identificationmedicine.diseasePhenotypeeye diseasesPedigreeRatsMice Inbred C57BLGenetic defects of metabolism [UMCN 5.1]Codon NonsenseCOS CellsFemalesense organsFunctional Neurogenomics [DCN 2]Microtubule-Associated ProteinsNature Genetics
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