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Article

ANKS3 Co-Localises with ANKS6 in Mouse Renal Cilia and Is Associated with Vasopressin Signaling and Apoptosis In Vivo in Mice.

PloS one - 1 Jan 2015

Delestré Laure, Bakey Zeineb, Prado Cécilia, Hoffmann Sigrid, Bihoreau Marie-Thérèse, Lelongt Brigitte, Gauguier Dominique

Abstract excerpt

Mutations in Ankyrin repeat and sterile alpha motif domain containing 6 (ANKS6) play a causative role in renal cyst formation in the PKD/Mhm(cy/+) rat model of polycystic kidney disease and in nephronophthisis in humans. A network of protein partners of ANKS6 is emerging and their functional characterization provides important clues to understand the role of ANKS6 in renal biology and in mechanisms involved in...

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Identifiers

PMID: 26327442
DOI: 10.1371/journal.pone.0136781
PMCID: PMC4556665

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ANKS3 Co-Localises with ANKS6 in Mouse Renal Cilia and Is Associated with Vasopressin Signaling and Apoptosis In Vivo in Mice.PMID 26327442Read ↗

The SAM domain of ANKS6 has different interacting partners and mutations can induce different cystic phenotypes.Semantic proximity Read ↗

Characterization of the SAM domain of the PKD-related protein ANKS6 and its interaction with ANKS3.Semantic proximity Read ↗

ANKS6 is a central component of a nephronophthisis module linking NEK8 to INVS and NPHP3.Semantic proximity Read ↗

Anks3 interacts with nephronophthisis proteins and is required for normal renal developmentSemantic proximity Read ↗

Biallelic ANKS6 mutations cause late-onset ciliopathy with chronic kidney disease through YAP dysregulation.Semantic proximity Read ↗

The Inv compartment of renal cilia is an intraciliary signal-activating center to phosphorylate ANKS6.Semantic proximity Read ↗

Mutations in ANKS6 cause a nephronophthisis-like phenotype with ESRD.Semantic proximity Read ↗

Biallelic ANKS6 null variants cause notable extrarenal phenotypes in a nephronophthisis patient and lead to hepatobiliary abnormalities by YAP1 deficiency.Semantic proximity Read ↗

Atmin modulates Pkhd1 expression and may mediate Autosomal Recessive Polycystic Kidney Disease (ARPKD) through altered non-canonical Wnt/Planar Cell Polarity (PCP) signallingSemantic proximity Read ↗

Missense mutation in sterile alpha motif of novel protein SamCystin is associated with polycystic kidney disease in (cy/+) rat.Semantic proximity Read ↗

Nephronophthisis gene products display RNA-binding properties and are recruited to stress granules.Semantic proximity Read ↗

The ANKS3/BICC1 protein complex is a master post-transcriptional regulator of <i>NPHP1</i> ciliopathy-gene transcriptsSemantic proximity Read ↗

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