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Mutations in INPP5E, encoding inositol polyphosphate5-phosphatase E, link phosphatidyl inositol sign...

Mutations in INPP5E, encoding inositol polyphosphate5-phosphatase E, link phosphatidyl inositol sign...

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_gale_infotracacademiconefile_A207705544

Mutations in INPP5E, encoding inositol polyphosphate5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies

About this item

Full title

Mutations in INPP5E, encoding inositol polyphosphate5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies

Publisher

Nature Publishing Group

Journal title

Nature genetics, 2009-09, Vol.41 (9), p.1032

Language

English

Formats

Publication information

Publisher

Nature Publishing Group

More information

Scope and Contents

Contents

Phosphotidylinositol (PtdIns) signaling is tightly regulated both spatially and temporally by subcellularly localized PtdIns kinases and phosphatases that dynamically alter downstream signaling events (1). Joubert syndrome is characterized by a specific midbrain-hindbrain malformation ('molar tooth sign'), variably associated retinal dystrophy, nep...

Alternative Titles

Full title

Mutations in INPP5E, encoding inositol polyphosphate5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_gale_infotracacademiconefile_A207705544

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_gale_infotracacademiconefile_A207705544

Other Identifiers

ISSN

1061-4036

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