Using induced pluripotent stem cells to understand retinal ciliopathy disease mechanisms and develop therapies

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Regulation of Stem Cell Properties of Müller Glia by JAK/STAT and MAPK Signaling in the Mammalian Retina.Correlative light and immuno-electron microscopy of retinal tissue cryostat sections.

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Using induced pluripotent stem cells to understand retinal ciliopathy disease mechanisms and develop therapies

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article scientifique

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bilimsel makale

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scientific article published on October 2016

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vedecký článok

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vetenskaplig artikel

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vědecký článek

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Using induced pluripotent stem ...... chanisms and develop therapies

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Using induced pluripotent stem ...... hanisms and develop therapies.

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Using induced pluripotent stem ...... chanisms and develop therapies

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Using induced pluripotent stem ...... hanisms and develop therapies.

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Using induced pluripotent stem ...... chanisms and develop therapies

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Using induced pluripotent stem ...... hanisms and develop therapies.

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Using induced pluripotent stem ...... chanisms and develop therapies

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Amelia Lane

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Conor Ramsden

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David A Parfitt

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Katarina Jovanovic

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Peter J Coffey

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The retinitis pigmentosa protein RP2 links pericentriolar vesicle transport between the Golgi and the primary cilium

Molecular characterization and functional analysis of phagocytosis by human embryonic stem cell-derived RPE cells using a novel human retinal assay

The retinitis pigmentosa 2 gene product is a GTPase-activating protein for Arf-like 3

Localization in the human retina of the X-linked retinitis pigmentosa protein RP2, its homologue cofactor C and the RP2 interacting protein Arl3

Mutations in the RP2 gene cause disease in 10% of families with familial X-linked retinitis pigmentosa assessed in this study

CP110 suppresses primary cilia formation through its interaction with CEP290, a protein deficient in human ciliary disease

In-frame deletion in a novel centrosomal/ciliary protein CEP290/NPHP6 perturbs its interaction with RPGR and results in early-onset retinal degeneration in the rd16 mouse

Mutations in the CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosis

Concise Review: Patient-Specific Stem Cells to Interrogate Inherited Eye Disease

CEP290 alleles in mice disrupt tissue-specific cilia biogenesis and recapitulate features of syndromic ciliopathies

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1245-1251

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scholarly article

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10.1042/BST20160156

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Michael E. Cheetham

Alison J Hardcastle

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2016-10-01T00:00:00Z

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27911706

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5238943

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Using induced pluripotent stem cells to understand retinal ciliopathy disease mechanisms and develop therapies

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Using induced pluripotent stem cells to understand retinal ciliopathy disease mechanisms and develop therapies

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P1476

P2093

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