about
Identification and characterization of a human mitochondrial homologue of the bacterial co-chaperone GrpEThe retinitis pigmentosa protein RP2 links pericentriolar vesicle transport between the Golgi and the primary ciliumX-linked megalocornea caused by mutations in CHRDL1 identifies an essential role for ventroptin in anterior segment developmentHSJ1 is a neuronal shuttling factor for the sorting of chaperone clients to the proteasomeThe ataxia protein sacsin is a functional co-chaperone that protects against polyglutamine-expanded ataxin-1MRAP and MRAP2 are bidirectional regulators of the melanocortin receptor familyTOPORS, implicated in retinal degeneration, is a cilia-centrosomal proteinEYS, encoding an ortholog of Drosophila spacemaker, is mutated in autosomal recessive retinitis pigmentosaA dual role for EDEM1 in the processing of rod opsinX-linked cone dystrophy caused by mutation of the red and green cone opsinsCystamine and cysteamine increase brain levels of BDNF in Huntington disease via HSJ1b and transglutaminase.Not all J domains are created equal: implications for the specificity of Hsp40-Hsp70 interactionsGuidelines for the nomenclature of the human heat shock proteinsTargeting amyloid-beta in glaucoma treatment.Arl3 and RP2 mediated assembly and traffic of membrane associated cilia proteins.Hsp90 as a Potential Therapeutic Target in Retinal DiseaseMolecular chaperone mediated late-stage neuroprotection in the SOD1(G93A) mouse model of amyotrophic lateral sclerosisMutations in the CACNA1F and NYX genes in British CSNBX familiesExpression of alternatively-spliced glutamate receptors in human hippocampusInherited ACTH insensitivity illuminates the mechanisms of ACTH actionMutations in MRAP, encoding a new interacting partner of the ACTH receptor, cause familial glucocorticoid deficiency type 2Differential expression of two distinct functional isoforms of melanopsin (Opn4) in the mammalian retinaIsolation and characterization of murine Cds (CDP-diacylglycerol synthase) 1 and 2Differential light-induced responses in sectorial inherited retinal degeneration.The inherited blindness protein AIPL1 regulates the ubiquitin-like FAT10 pathwayLeber congenital amaurosis associated with AIPL1: challenges in ascribing disease causation, clinical findings, and implications for gene therapy.The expression of the Leber congenital amaurosis protein AIPL1 coincides with rod and cone photoreceptor development.Nuclear translocation of the Hsp70/Hsp90 organizing protein mSTI1 is regulated by cell cycle kinases.Unfolding retinal dystrophies: a role for molecular chaperones?Three different cone opsin gene array mutational mechanisms with genotype-phenotype correlation and functional investigation of cone opsin variantsTranslational read-through of the RP2 Arg120stop mutation in patient iPSC-derived retinal pigment epithelium cells.Focus on molecules: nyctalopin.The Leber congenital amaurosis protein AIPL1 and EB proteins co-localize at the photoreceptor ciliumMutations in LCA5, encoding the ciliary protein lebercilin, cause Leber congenital amaurosis.Molecular mechanisms of disease for mutations at Gly-90 in rhodopsinCytosolic and ER J-domains of mammalian and parasitic origin can functionally interact with DnaK.Suppression of protein aggregation by chaperone modification of high molecular weight complexesDeep intronic mutation in OFD1, identified by targeted genomic next-generation sequencing, causes a severe form of X-linked retinitis pigmentosa (RP23)Autosomal-Dominant Corneal Endothelial Dystrophies CHED1 and PPCD1 Are Allelic Disorders Caused by Non-coding Mutations in the Promoter of OVOL2Identification and Correction of Mechanisms Underlying Inherited Blindness in Human iPSC-Derived Optic Cups.
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description
hulumtues
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researcher
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wetenschapper
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հետազոտող
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name
Michael E. Cheetham
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Michael E. Cheetham
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Michael E. Cheetham
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Michael E. Cheetham
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Michael E. Cheetham
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type
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Michael E. Cheetham
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Michael E. Cheetham
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Michael E. Cheetham
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Michael E. Cheetham
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Michael E. Cheetham
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Michael E. Cheetham
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Michael E. Cheetham
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Michael E. Cheetham
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Michael E. Cheetham
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Michael E. Cheetham
@sl
P106
P1153
7004465799
P21
P31
P496
0000-0001-6429-654X