Concepedia

Mutations of the catalytic subunit of RAB3GAP cause Warburg Micro syndrome

Irene A. Aligianis, Colin A. Johnson, Paul Gissen, Dongrong Chen, Daniel J. Hampshire, Katrin Hoffmann, Esther N. Maina, Neil V. Morgan, Louise Tee, Jenny Morton,

Nature Genetics · 2005 · 226 citations · 9 references

DOI

Concepts

References

9

Isolation and Characterization of a GTPase Activating Protein Specific for the Rab3 Subfamily of Small G Proteins

Koji Fukui, Takuya Sasaki, Katsunori Imazumi et al. · Journal of Biological Chemistry · 1997 · 190 citations · Full text

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Localization Versus Function of Rab3 Proteins

Oliver M. Schlüter, Mikhail Khvotchev, Reinhard Jahn et al. · Journal of Biological Chemistry · 2002 · 163 citations · Full text

, , +17

The mGlu5 metabotropic glutamate receptor is expressed in zones of active neurogenesis of the embryonic and postnatal brain

V.D Di Giorgi Gerevini, Antonello Caruso, Irene Cappuccio et al. · Developmental Brain Research · 2004 · 111 citations

, , +16

Autosomal Recesssive Microcephaly, Microcornea, Congenital Cataract, Mental Retardation, Optic Atrophy, and Hypogenitalism

Mette Warburg · American journal of diseases of children · 1993 · 110 citations

, , +17

Molecular Cloning and Characterization of the Noncatalytic Subunit of the Rab3 Subfamily-specific GTPase-activating Protein

Fumiko Nagano, Takuya Sasaki, Koji Fukui et al. · Journal of Biological Chemistry · 1998 · 71 citations · Full text

, , +13