Disruption of intraflagellar protein transport in photoreceptor cilia causes Leber congenital amaurosis in humans and mice (Q24304229)

protein-containing complex binding

GOA release 2020-03-11

1 reference

Leber congenital amaurosis 5 (human)

GOA release 2020-03-11

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Leber congenital amaurosis

GOA release 2020-03-11

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19

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Karsten Boldt

1

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Ronald Roepman

Christian Johannes Gloeckner

18

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16

Christian J Gloeckner

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Jeroen van Reeuwijk

4

Jeroen van Reeuwijk

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Norbert Kinkl

6

Norbert Kinkl

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Robert Koenekoop

13

Robert K Koenekoop

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Frans P M Cremers

15

Frans P M Cremers

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Anneke den Hollander

12

Anneke I den Hollander

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author name string

Dorus A Mans

2

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Jungyeon Won

3

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Andreas Vogt

5

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Stef J F Letteboer

7

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Wanda L Hicks

8

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Ron E Hurd

9

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Jürgen K Naggert

10

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Yves Texier

11

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Jean Bennett

14

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Patsy M Nishina

Journal of Clinical Investigation

17

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language of work or name

English

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publication date

June 2011

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published in

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volume

121

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issue

6

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page(s)

2169-80

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cites work

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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

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Chlamydomonas kinesin-II-dependent intraflagellar transport (IFT): IFT particles contain proteins required for ciliary assembly in Caenorhabditis elegans sensory neurons

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Elipsa is an early determinant of ciliogenesis that links the IFT particle to membrane-associated small GTPase Rab8.

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19 March 2017

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Cranioectodermal Dysplasia, Sensenbrenner syndrome, is a ciliopathy caused by mutations in the IFT122 gene

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Intraflagellar transport (IFT) protein IFT25 is a phosphoprotein component of IFT complex B and physically interacts with IFT27 in Chlamydomonas

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Centrosomal-ciliary gene CEP290/NPHP6 mutations result in blindness with unexpected sparing of photoreceptors and visual brain: implications for therapy of Leber congenital amaurosis

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The intraflagellar transport protein, IFT88, is essential for vertebrate photoreceptor assembly and maintenance

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The Chlamydomonas reinhardtii BBSome is an IFT cargo required for export of specific signaling proteins from flagella

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Differential macular morphology in patients with RPE65-, CEP290-, GUCY2D-, and AIPL1-related Leber congenital amaurosis

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