Human neurons from Christianson syndrome iPSCs reveal mutation-specific responses to rescue strategies

Upf proteins: highly conserved factors involved in nonsense mRNA mediated decay

(2017) Puneet Gupta et al.   MOLECULAR BIOLOGY REPORTS

A Christianson syndrome-linked deletion mutation (∆287ES288) in SLC9A6 disrupts recycling endosomal function and elicits neurodegeneration and cell death

(2016) Alina Ilie et al.   Molecular Neurodegeneration

The Na+/H+Exchanger NHE6 Modulates Endosomal pH to Control Processing of Amyloid Precursor Protein in a Cell Culture Model of Alzheimer Disease

(2015) Hari Prasad et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Astrocyte VAMP3 vesicles undergo Ca2+-independent cycling and modulate glutamate transporter trafficking

(2015) Dongdong Li et al.   JOURNAL OF PHYSIOLOGY-LONDON

Ensembl 2016

(2015) Andrew Yates et al.   NUCLEIC ACIDS RESEARCH

Targeted therapies to improve CFTR function in cystic fibrosis

(2015) Malcolm Brodlie et al.   Genome Medicine

Determinants of Substrate and Cation Transport in the Human Na+/Dicarboxylate Cotransporter NaDC3

(2014) Avner Schlessinger et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Crystal structure of the sodium–proton antiporter NhaA dimer and new mechanistic insights

(2014) Chiara Lee et al.   JOURNAL OF GENERAL PHYSIOLOGY

Modelling human development and disease in pluripotent stem-cell-derived gastric organoids

(2014) Kyle W. McCracken et al.   NATURE

Safety, pharmacokinetics, and preliminary assessment of efficacy of mecasermin (recombinant human IGF-1) for the treatment of Rett syndrome

(2014) O. S. Khwaja et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

A pilot controlled trial of insulin-like growth factor-1 in children with Phelan-McDermid syndrome

(2014) Alexander Kolevzon et al.   Molecular Autism

GROMACS 4.5: a high-throughput and highly parallel open source molecular simulation toolkit

(2013) Sander Pronk et al.   BIOINFORMATICS

SHANK3 and IGF1 restore synaptic deficits in neurons from 22q13 deletion syndrome patients

(2013) Aleksandr Shcheglovitov et al.   NATURE

Christianson Syndrome Protein NHE6 Modulates TrkB Endosomal Signaling Required for Neuronal Circuit Development

(2013) Qing Ouyang et al.   NEURON

High Selectivity of the γ-Aminobutyric Acid Transporter 2 (GAT-2, SLC6A13) Revealed by Structure-based Approach

(2012) Avner Schlessinger et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Directed differentiation of human pluripotent stem cells to cerebral cortex neurons and neural networks

(2012) Yichen Shi et al.   Nature Protocols

Harnessing the Power of the Endosome to Regulate Neural Development

(2012) Chan Choo Yap et al.   NEURON

Recruitment of Actin Modifiers to TrkA Endosomes Governs Retrograde NGF Signaling and Survival

(2011) Anthony W. Harrington et al.   CELL

Lentiviral Vector Design and Imaging Approaches to Visualize the Early Stages of Cellular Reprogramming

(2011) Eva Warlich et al.   MOLECULAR THERAPY

Potential therapeutic uses of BDNF in neurological and psychiatric disorders

(2011) Alan H. Nagahara et al.   NATURE REVIEWS DRUG DISCOVERY

Organellar Na+/H+Exchangers: Novel Players in Organelle pH Regulation and Their Emerging Functions

(2010) Ryuichi Ohgaki et al.   BIOCHEMISTRY

A Model for Neural Development and Treatment of Rett Syndrome Using Human Induced Pluripotent Stem Cells

(2010) Maria C.N. Marchetto et al.   CELL

C -trace model of the transmembrane domain of human copper transporter 1, motion and functional implications

(2010) M. Schushan et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Direct Generation of Induced Pluripotent Stem Cells from Human Nonmobilized Blood

(2010) Atsushi Kunisato et al.   STEM CELLS AND DEVELOPMENT

Sensors and regulators of intracellular pH

(2009) Joseph R. Casey et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Partial reversal of Rett Syndrome-like symptoms in MeCP2 mutant mice

(2009) Daniela Tropea et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

SLC9A6 Mutations Cause X-Linked Mental Retardation, Microcephaly, Epilepsy, and Ataxia, a Phenotype Mimicking Angelman Syndrome

(2008) Gregor D. Gilfillan et al.   AMERICAN JOURNAL OF HUMAN GENETICS

WGCNA: an R package for weighted correlation network analysis

(2008) Peter Langfelder et al.   BMC BIOINFORMATICS