Role of the 72kDa 5-phosphatase in human diseases

Funding Activity

Website
http://purl.org/au-research/grants/nhmrc/606402

Funding Status
Closed

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Funded Activity Summary

We have identified a novel gene, Inpp5e, that when mutated causes a disease similar to Joubert syndrome and MORMS disease which leads to abnormal movements, developmental delays, mental retardation, abnormal breathing and eye movement. We have identified a candidate gene for these diseases and have shown that deletion of this gene in mice results in similar pathology. We aim to determine the mechanism by which Inpp5e regulates human development and disease.

Funded Activity Details

Start Date: 01-01-2010

End Date: 01-01-2012

Funding Scheme: NHMRC Project Grants

Funding Amount: $689,474.00

Funder: National Health and Medical Research Council

Research Topics

ANZSRC Field of Research (FoR)

Signal Transduction

ANZSRC Socio-Economic Objective (SEO)

There are no SEO codes available for this funding activity

Other Keywords

Cell biology | Ciliopathies | Developmental abnormalities | Knockout mice | Phosphoinositide 3-kinase and Hedgehog signaling | Polycystic kidney disease-cancer | Signal Transduction | neural tube defects | polydactyly

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