Single point mutation in Rabenosyn-5 in a female with intractable seizures and evidence of defective endocytotic trafficking
Open Access
- 20 September 2014
- journal article
- case report
- Published by Springer Science and Business Media LLC in Orphanet Journal of Rare Diseases
- Vol. 9 (1), 1-11
- https://doi.org/10.1186/s13023-014-0141-5
Abstract
No abstract availableKeywords
This publication has 30 references indexed in Scilit:
- Altered neurotransmitter release, vesicle recycling and presynaptic structure in the pilocarpine model of temporal lobe epilepsyBrain, 2012
- Rabenosyn-5 defines the fate of the transferrin receptor following clathrin-mediated endocytosisProceedings of the National Academy of Sciences of the United States of America, 2012
- TBC1D24, an ARF6-Interacting Protein, Is Mutated in Familial Infantile Myoclonic EpilepsyAmerican Journal of Human Genetics, 2010
- Structural basis for Rab GTPase recognition and endosome tethering by the C 2 H 2 zinc finger of Early Endosomal Autoantigen 1 (EEA1)Proceedings of the National Academy of Sciences of the United States of America, 2010
- Common and distinct roles for the binding partners Rabenosyn-5 and Vps45 in the regulation of endocytic trafficking in mammalian cellsExperimental Cell Research, 2010
- EHD3 regulates early-endosome-to-Golgi transport and preserves Golgi morphologyJournal of Cell Science, 2009
- Regulation of Early Endosomal Entry by theDrosophilaTumor Suppressors Rabenosyn and Vps45Molecular Biology of the Cell, 2008
- Improving the photostability of bright monomeric orange and red fluorescent proteinsNature Methods, 2008
- Cathepsin D Deficiency Is Associated with a Human Neurodegenerative DisorderAmerican Journal of Human Genetics, 2006
- Signals for Sorting of Transmembrane Proteins to Endosomes and LysosomesAnnual Review of Biochemistry, 2003