Single point mutation in Rabenosyn-5 in a female with intractable seizures and evidence of defective endocytotic trafficking

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