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

Next-generation sequencing in X-linked intellectual disability

(2015) Andreas Tzschach et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

TrkB activation by 7, 8-dihydroxyflavone increases synapse AMPA subunits and ameliorates spatial memory deficits in a mouse model of Alzheimer's disease

(2015) Lei Gao et al.   JOURNAL OF NEUROCHEMISTRY

Genetic and phenotypic diversity ofNHE6mutations in Christianson syndrome

(2014) Matthew F. Pescosolido et al.   ANNALS OF NEUROLOGY

Essential versus accessory aspects of cell death: recommendations of the NCCD 2015

(2014) L Galluzzi et al.   CELL DEATH AND DIFFERENTIATION

A novel mutation in the endosomal Na+/H+ exchanger NHE6 (SLC9A6) causes Christianson syndrome with electrical status epilepticus during slow-wave sleep (ESES)

(2014) Ginevra Zanni et al.   EPILEPSY RESEARCH

Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing

(2014) Claire Redin et al.   JOURNAL OF MEDICAL GENETICS

Organelle-specific initiation of cell death

(2014) Lorenzo Galluzzi et al.   NATURE CELL BIOLOGY

Ubiquitin-Dependent Sorting in Endocytosis

(2014) R. C. Piper et al.   Cold Spring Harbor Perspectives in Biology

Abnormalities in the zinc-metalloprotease-BDNF axis may contribute to megalencephaly and cortical hyperconnectivity in young autism spectrum disorder patients

(2014) Jae-Young Koh et al.   Molecular Brain

Identification of pathogenic gene variants in small families with intellectually disabled siblings by exome sequencing

(2013) Janneke H M Schuurs-Hoeijmakers et al.   JOURNAL OF MEDICAL GENETICS

BDNF-Dependent Recycling Facilitates TrkB Translocation to Postsynaptic Density during LTP via a Rab11-Dependent Pathway

(2013) S.-H. Huang et al.   JOURNAL OF NEUROSCIENCE

Enhanced Recruitment of Endosomal Na+/H+ Exchanger NHE6 into Dendritic Spines of Hippocampal Pyramidal Neurons during NMDA Receptor-Dependent Long-Term Potentiation

(2013) E. C. Deane et al.   JOURNAL OF NEUROSCIENCE

Ubiquitination-dependent quality control of hERG K+ channel with acquired and inherited conformational defect at the plasma membrane

(2013) Pirjo M. Apaja et al.   MOLECULAR BIOLOGY OF THE CELL

Genes for endosomal NHE6 and NHE9 are misregulated in autism brains

(2013) M Schwede et al.   MOLECULAR PSYCHIATRY

Impaired posttranslational processing and trafficking of an endosomal Na+/H+ exchanger NHE6 mutant (Δ370WST372) associated with X-linked intellectual disability and autism

(2013) Alina Ilie et al.   NEUROCHEMISTRY INTERNATIONAL

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

(2013) Qing Ouyang et al.   NEURON

Christianson Syndrome: Spectrum of Neuroimaging Findings

(2013) Thangamadhan Bosemani et al.   NEUROPEDIATRICS

Fragile X and X-Linked Intellectual Disability: Four Decades of Discovery

(2012) Herbert A. Lubs et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Reduced social interaction, behavioural flexibility and BDNF signalling in the BTBR T+tf/J strain, a mouse model of autism

(2012) M.L. Scattoni et al.   BEHAVIOURAL BRAIN RESEARCH

Novel mutation in SLC9A6 gene in a patient with Christianson syndrome and retinitis pigmentosum

(2012) Cyril Mignot et al.   BRAIN & DEVELOPMENT

NovelSLC9A6mutations in two families with Christianson syndrome

(2012) A Riess et al.   CLINICAL GENETICS

Roles of Ubiquitin in Endoplasmic Reticulum-Associated Protein Degradation (ERAD)

(2012) Veit Goder   CURRENT PROTEIN & PEPTIDE SCIENCE

Endoplasmic reticulum dysfunction in neurological disease

(2012) Benoit D Roussel et al.   LANCET NEUROLOGY

Endoplasmic Reticulum Enrollment in Alzheimer’s Disease

(2012) Ricardo J. S. Viana et al.   MOLECULAR NEUROBIOLOGY

Christianson syndrome in a patient with an interstitial Xq26.3 deletion

(2011) Andreas Tzschach et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

A loss-of-function mutation in the SLC9A6 gene causes X-linked mental retardation resembling Angelman syndrome

(2011) Yumi Takahashi et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS

Na+/H+ exchanger isoform 6 (NHE6/SLC9A6) is involved in clathrin-dependent endocytosis of transferrin

(2011) Lou Xinhan et al.   AMERICAN JOURNAL OF PHYSIOLOGY-CELL PHYSIOLOGY

X-linked Angelman-like syndrome caused by Slc9a6 knockout in mice exhibits evidence of endosomal–lysosomal dysfunction

(2011) Petter Strømme et al.   BRAIN

Unfolded proteins and endoplasmic reticulum stress in neurodegenerative disorders

(2011) Karen M. Doyle et al.   JOURNAL OF CELLULAR AND MOLECULAR MEDICINE

Integrating the mechanisms of apoptosis induced by endoplasmic reticulum stress

(2011) Ira Tabas et al.   NATURE CELL BIOLOGY

Glutamate receptor dysfunction and drug targets across models of autism spectrum disorders

(2011) Greg C. Carlson   PHARMACOLOGY BIOCHEMISTRY AND BEHAVIOR

Natural history of Christianson syndrome

(2010) Richard J. Schroer et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Genetics of Early Onset Cognitive Impairment

(2010) Hans Hilger Ropers   Annual Review of Genomics and Human Genetics

A mutation affecting the sodium/proton exchanger, SLC9A6, causes mental retardation with tau deposition

(2010) James Y. Garbern et al.   BRAIN

Dependence receptors: Mechanisms of an announced death

(2010) Chantal Thibert et al.   CELL CYCLE

Increased BDNF levels and NTRK2 gene association suggest a disruption of BDNF/TrkB signaling in autism

(2010) C. T. Correia et al.   GENES BRAIN AND BEHAVIOR

Structural Modeling and Electron Paramagnetic Resonance Spectroscopy of the Human Na+/H+Exchanger Isoform 1, NHE1

(2010) Eva B. Nygaard et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Quality control for unfolded proteins at the plasma membrane

(2010) Pirjo M. Apaja et al.   JOURNAL OF CELL BIOLOGY

Xq26.2-q26.3 microduplication in two brothers with intellectual disabilities: clinical and molecular characterization

(2010) Irene Madrigal et al.   JOURNAL OF HUMAN GENETICS

The Na+/H+ Exchanger NHE6 in the Endosomal Recycling System Is Involved in the Development of Apical Bile Canalicular Surface Domains in HepG2 Cells

(2010) Ryuichi Ohgaki et al.   MOLECULAR BIOLOGY OF THE CELL

Systematic resequencing of X-chromosome synaptic genes in autism spectrum disorder and schizophrenia

(2010) A Piton et al.   MOLECULAR PSYCHIATRY

Molecular mechanisms of necroptosis: an ordered cellular explosion

(2010) Peter Vandenabeele et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

BDNF and TrkB in neuronal differentiation of Fmr1-knockout mouse

(2010) Verna Louhivuori et al.   NEUROBIOLOGY OF DISEASE

Peripheral Protein Quality Control Removes Unfolded CFTR from the Plasma Membrane

(2010) T. Okiyoneda et al.   SCIENCE

Guidelines for the use and interpretation of assays for monitoring cell death in higher eukaryotes

(2009) L Galluzzi et al.   CELL DEATH AND DIFFERENTIATION

Dual degradation mechanisms ensure disposal of NHE6 mutant protein associated with neurological disease

(2009) Ingrid Roxrud et al.   EXPERIMENTAL CELL RESEARCH

Rab7 Regulates Late Endocytic Trafficking Downstream of Multivesicular Body Biogenesis and Cargo Sequestration

(2009) Phillip A. Vanlandingham et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

N-glycans are direct determinants of CFTR folding and stability in secretory and endocytic membrane traffic

(2009) Rina Glozman et al.   JOURNAL OF CELL BIOLOGY

The ESCRT machinery in endosomal sorting of ubiquitylated membrane proteins

(2009) Camilla Raiborg et al.   NATURE

A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation

(2009) Patrick S Tarpey et al.   NATURE GENETICS

Sensors and regulators of intracellular pH

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

Endocytic Trafficking and Recycling Maintain a Pool of Mobile Surface AMPA Receptors Required for Synaptic Potentiation

(2009) Enrica Maria Petrini et al.   NEURON

The genetic landscape of intellectual disability arising from chromosome X

(2009) Jozef Gécz et al.   TRENDS IN GENETICS

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

Genes, plasticity and mental retardation

(2008) Cyrille Vaillend et al.   BEHAVIOURAL BRAIN RESEARCH

The Endosomal Protein Appl1 Mediates Akt Substrate Specificity and Cell Survival in Vertebrate Development

(2008) Annette Schenck et al.   CELL

Clathrin-Mediated Internalization Is Essential for Sustained EGFR Signaling but Dispensable for Degradation

(2008) Sara Sigismund et al.   DEVELOPMENTAL CELL

Regulation of TNFR1 and CD95 signalling by receptor compartmentalization

(2008) Stefan Schütze et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Epsin 1 is Involved in Recruitment of Ubiquitinated EGF Receptors into Clathrin-Coated Pits

(2008) Maja Kazazic et al.   TRAFFIC

Apoptosis: controlled demolition at the cellular level

(2007) Rebecca C. Taylor et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY