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Loss of Christianson Syndrome Na + /H + Exchanger 6 (NHE6) Causes Abnormal Endosome Maturation and Trafficking Underlying Lysosome Dysfunction in Neurons

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

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Golgipathies in Neurodevelopment: A New View of Old Defects

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

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The Angelman Syndrome Protein Ube3a/E6AP Is Required for Golgi Acidification and Surface Protein Sialylation

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Discovery of Rare Mutations in Autism: Elucidating Neurodevelopmental Mechanisms

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The Intracellular Na+/H+ Exchanger NHE7 Effects a Na+-Coupled, but Not K+-Coupled Proton-Loading Mechanism in Endocytosis

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Decreased Brain pH and Pathophysiology in Schizophrenia

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

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Mechanisms regulating dendritic arbor patterning

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Genetic Imprinting: The Paradigm of Prader-Willi and Angelman Syndromes

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The Impact of X-Chromosome Inactivation on Phenotypic Expression of X-Linked Neurodevelopmental Disorders

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SLC9A9 mutations, gene expression and protein-protein interactions in rat models of attention-deficit/hyperactivity disorder

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A recurrent missense variant in SLC9A7 causes nonsyndromic X-linked intellectual disability with alteration of Golgi acidification and aberrant glycosylation

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The expanding phenotypic spectrum of female SLC9A6 mutation carriers: a case series and review of the literature

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The Expanding Clinical Spectrum of Genetic Pediatric Epileptic Encephalopathies

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Early lysosome defects precede neurodegeneration with amyloid-β and tau aggregation in NHE6-null rat brain

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

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

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A mouse model of autism implicates endosome pH in the regulation of presynaptic calcium entry

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The mitochondrial solute carrier SLC25A5 at Xq24 is a novel candidate gene for non-syndromic intellectual disability

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Cerebellar Dysfunction and Ataxia in Patients with Epilepsy: Coincidence, Consequence, or Cause?

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Targeted Next-Generation Sequencing in Patients with Suggestive X-Linked Intellectual Disability

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

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Novel SLC9A6 mutations in two families with Christianson syndrome

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X-linked disorders with cerebellar dysgenesis

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The Angelman Syndrome Protein Ube3A Regulates Synapse Development by Ubiquitinating Arc

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SLC gene mutations and pediatric neurological disorders: diverse clinical phenotypes in a Saudi Arabian population

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

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Mixed Neurodevelopmental and Neurodegenerative Pathology inNhe6-Null Mouse Model of Christianson Syndrome

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An Integrated Model of Minor Intron Emergence and Conservation

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Implications of sodium hydrogen exchangers in various brain diseases

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X-linked ataxias

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A new family with an SLC9A6 mutation expanding the phenotypic spectrum of Christianson syndrome

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Loss of SLC9A6/NHE6 impairs nociception in a mouse model of Christianson syndrome

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Identification of candidate gene FAM183A and novel pathogenic variants in known genes: High genetic heterogeneity for autosomal recessive intellectual disability

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NHX-5, an endosomal Na+/H+ exchanger, is associated with metformin action

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Potential therapeutic approaches for Angelman syndrome

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Endosomal Acid-Base Homeostasis in Neurodegenerative Diseases

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A potential gain-of-function variant of SLC9A6 leads to endosomal alkalinization and neuronal atrophy associated with Christianson Syndrome

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The Na + (K + )/H + exchanger Nhx1 controls multivesicular body–vacuolar lysosome fusion

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X-linked Christianson syndrome: heterozygous female Slc9a6 knockout mice develop mosaic neuropathological changes and related behavioral abnormalities

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

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