0000000000420659

AUTHOR

Dragana Josifova

showing 2 related works from this author

A Transition Zone Complex Regulates Mammalian Ciliogenesis and Ciliary Membrane Composition

2011

Mutations in genes encoding ciliary components cause ciliopathies, but how many of these mutations disrupt ciliary function is unclear. We investigated Tectonic1 (Tctn1), a regulator of mouse Hedgehog signaling, and found that it is essential for ciliogenesis in some, but not all, tissues. Cell types that do not require Tctn1 for ciliogenesis require it to localize select membrane-associated proteins to the cilium, including Arl13b, AC3, Smoothened and Pkd2. Tctn1 forms a complex with multiple ciliopathy proteins associated with Meckel (MKS) and Joubert (JBTS) syndromes, including Mks1, Tmem216, Tmem67, Cep290, B9d1, Tctn2, and Cc2d2a. Components of the Tectonic ciliopathy complex colocaliz…

TMEM67Inbred C57BLCiliopathiesMedical and Health SciencesMice0302 clinical medicineCerebellumMorphogenesisEye AbnormalitiesEncephalocelePediatricMice Knockout0303 health sciencesPolycystic Kidney DiseasesCiliumCiliary transition zoneBiological SciencesKidney Diseases CysticCell biologyOrgan SpecificityCiliary Motility DisordersKidney DiseasesRabbitsAbnormalitiesMultipleRetinitis PigmentosaCiliary Motility DisordersSignal TransductionKnockoutBiologyRetinaArticle03 medical and health sciencesCysticRare DiseasesCerebellar DiseasesCiliogenesisGeneticsMatrix-Assisted Laser Desorption-IonizationAnimalsHumansAbnormalities MultipleCiliaCiliary membrane030304 developmental biologySpectrometryCell MembraneMembrane ProteinsMassPeptide FragmentsMice Inbred C57BLSpectrometry Mass Matrix-Assisted Laser Desorption-IonizationMutationCiliary baseChickens030217 neurology & neurosurgeryDevelopmental BiologyNature genetics
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Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagy

2013

Vici syndrome is a recessively inherited multisystem disorder characterized by callosal agenesis, cataracts, cardiomyopathy, combined immunodeficiency and hypopigmentation. To investigate the molecular basis of Vici syndrome, we carried out exome and Sanger sequence analysis in a cohort of 18 affected individuals. We identified recessive mutations in EPG5 (previously KIAA1632), indicating a causative role in Vici syndrome. EPG5 is the human homolog of the metazoan-specific autophagy gene epg-5, encoding a key autophagy regulator (ectopic P-granules autophagy protein 5) implicated in the formation of autolysosomes. Further studies showed a severe block in autophagosomal clearance in muscle a…

BiopsyVesicular Transport ProteinsAutophagy-Related ProteinsGenes RecessiveConsanguinityBiologymedicine.disease_causeArticleCataract03 medical and health sciencesConsanguinity0302 clinical medicineCataractsAntigens NeoplasmGeneticsmedicineAutophagyHumansVici syndromeExomeFamilyMuscle SkeletalExomeImmunodeficiency030304 developmental biologyGenetics0303 health sciencesMutationAutophagyIntracellular Signaling Peptides and ProteinsLysosome-Associated Membrane GlycoproteinsProteinsmedicine.diseaseMutationAutophagy Protein 5Agenesis of Corpus CallosumLysosomes030217 neurology & neurosurgeryNature genetics
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