Single point mutation in Rabenosyn-5 in a female with intractable seizures and evidence of defective endocytotic trafficking
出版年份 2014 全文链接
标题
Single point mutation in Rabenosyn-5 in a female with intractable seizures and evidence of defective endocytotic trafficking
作者
关键词
Internalization, Receptor endocytosis, Recycling, FYVE domain, Rab GTPase, Epilepsy, Cathepsin D, Vitamin B12, Inborn error of metabolism
出版物
Orphanet Journal of Rare Diseases
Volume 9, Issue 1, Pages -
出版商
Springer Nature
发表日期
2014-09-19
DOI
10.1186/s13023-014-0141-5
参考文献
相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。- The metabolic evaluation of the child with an intellectual developmental disorder: Diagnostic algorithm for identification of treatable causes and new digital resource
- (2014) Clara D.M. van Karnebeek et al. MOLECULAR GENETICS AND METABOLISM
- The Thr224Asn mutation in the VPS45 gene is associated with the congenital neutropenia and primary myelofibrosis of infancy
- (2013) P. Stepensky et al. BLOOD
- A Congenital Neutrophil Defect Syndrome Associated with Mutations in VPS45
- (2013) Thierry Vilboux et al. NEW ENGLAND JOURNAL OF MEDICINE
- Altered neurotransmitter release, vesicle recycling and presynaptic structure in the pilocarpine model of temporal lobe epilepsy
- (2012) Chirag Upreti et al. BRAIN
- Rabenosyn-5 defines the fate of the transferrin receptor following clathrin-mediated endocytosis
- (2012) D. M. Navaroli et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- TBC1D24, an ARF6-Interacting Protein, Is Mutated in Familial Infantile Myoclonic Epilepsy
- (2010) Antonio Falace et al. AMERICAN JOURNAL OF HUMAN GENETICS
- A novel function for the Rab5 effector Rabenosyn-5 in planar cell polarity
- (2010) G. Mottola et al. DEVELOPMENT
- Structural basis for Rab GTPase recognition and endosome tethering by the C2H2 zinc finger of Early Endosomal Autoantigen 1 (EEA1)
- (2010) A. Mishra et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- A Missense Mutation in a Highly Conserved Alternate Exon of Dynamin-1 Causes Epilepsy in Fitful Mice
- (2010) Rebecca M. Boumil et al. PLoS Genetics
- Common and distinct roles for the binding partners Rabenosyn-5 and Vps45 in the regulation of endocytic trafficking in mammalian cells
- (2009) Juliati Rahajeng et al. EXPERIMENTAL CELL RESEARCH
- EHD3 regulates early-endosome-to-Golgi transport and preserves Golgi morphology
- (2009) N. Naslavsky et al. JOURNAL OF CELL SCIENCE
- Disruption of Normal Cytoskeletal Dynamics May Play a Key Role in the Pathogenesis of Epilepsy
- (2009) John Gardiner et al. NEUROSCIENTIST
- Regulation of Early Endosomal Entry by the Drosophila Tumor Suppressors Rabenosyn and Vps45
- (2008) Holly A. Morrison et al. MOLECULAR BIOLOGY OF THE CELL
- Improving the photostability of bright monomeric orange and red fluorescent proteins
- (2008) Nathan C Shaner et al. NATURE METHODS
Add your recorded webinar
Do you already have a recorded webinar? Grow your audience and get more views by easily listing your recording on Peeref.
Upload NowAsk a Question. Answer a Question.
Quickly pose questions to the entire community. Debate answers and get clarity on the most important issues facing researchers.
Get Started