CIDeRplusGeneral Information:
| Id: | 7,159 |
| Diseases: |
Ciliopathy
Nephronophthisis 9 - [OMIM] |
| Homo sapiens | |
| article | |
| Reference: | [PMID: 26967905] |
Interaction Information:
| Comment | NEK8/NPHP9 mutations are associated with severe syndromic renal cystic dysplasia. |
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Formal Description Interaction-ID: 70404 |
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| Comment | In primary fibroblasts from skin biopsies obtained from patients harboring compound heterozygous mutations, NEK8 was absent from cilia, while NEK8 was located in the proximal part of the ciliary axoneme in control ciliated fibroblasts. NEK8 was absent from cilia in PT1 fibroblasts carrying missense mutations (p.T87A/p.R602W), and was instead detected onto a cytoplasmic juxtanuclear vesicular compartment that was identified as the Golgi apparatus. |
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Formal Description Interaction-ID: 70493 |
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| Comment | In primary fibroblasts from skin biopsies obtained from patients harboring compound heterozygous mutations, NEK8 was absent from cilia, while NEK8 was located in the proximal part of the ciliary axoneme in control ciliated fibroblasts. NEK8 was absent from cilia in PT1 fibroblasts carrying missense mutations (p.T87A/p.R602W), and was instead detected onto a cytoplasmic juxtanuclear vesicular compartment that was identified as the Golgi apparatus. |
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Formal Description Interaction-ID: 70494 |
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| Comment | Evaluation of the impact of NEK8 mutations on ciliogenesis showed that the percentage of ciliated cells was significantly decreased in PT1 fibroblasts (p.T87A/p.R602W) compared to control cells (50% vs 80%). |
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Formal Description Interaction-ID: 70495 |
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| Comment | NEK8 missense mutations affect both ciliogenesis and biogenesis of the INVS compartment in renal tubular cells and fibroblasts, by preventing correct targeting of NEK8 to cilia and/or binding to or recruitment of ANKS6. |
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Formal Description Interaction-ID: 70496 |
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| Comment | NEK8 missense and loss-of-function mutations differentially affect the regulation of the main Hippo signaling effector, YAP, as well as the expression of its target genes in patient fibroblasts and renal cells. |
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Formal Description Interaction-ID: 70497 |
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| Comment | NEK8 missense and loss-of-function mutations differentially affect the regulation of the main Hippo signaling effector, YAP, as well as the expression of its target genes in patient fibroblasts and renal cells. |
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Formal Description Interaction-ID: 70498 |
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| Comment | NEK8 missense and loss-of-function mutations differentially affect the regulation of the main Hippo signaling effector, YAP, as well as the expression of its target genes in patient fibroblasts and renal cells. |
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Formal Description Interaction-ID: 70499 |
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| Comment | NEK8 missense and loss-of-function mutations differentially affect the regulation of the main Hippo signaling effector, YAP, as well as the expression of its target genes in patient fibroblasts and renal cells. |
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Formal Description Interaction-ID: 70500 |
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| Comment | NEK8 missense and loss-of-function mutations differentially affect the regulation of the main Hippo signaling effector, YAP, as well as the expression of its target genes in patient fibroblasts and renal cells. |
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Formal Description Interaction-ID: 70501 |
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| Comment | NEK8 missense and loss-of-function mutations differentially affect the regulation of the main Hippo signaling effector, YAP, as well as the expression of its target genes in patient fibroblasts and renal cells. |
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Formal Description Interaction-ID: 70502 |
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