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

Ilie, Alina; Gao, Andy Y L; Boucher, Annie; Park, Jaeok; Berghuis, Albert M; Hoffer, Mariëtte J V; Hilhorst-Hofstee, Yvonne; McKinney, R Anne; Orlowski, John

Ilie, Alina; Gao, Andy Y L; Boucher, Annie; Park, Jaeok; Berghuis, Albert M; Hoffer, Mariëtte J V; Hilhorst-Hofstee, Yvonne; McKinney, R Anne; Orlowski, John.

Affiliation

Ilie A; Department of Physiology, McGill University, Montreal, Canada.
Gao AYL; Department of Pharmacology and Therapeutics, McGill University, Montreal, Canada.
Boucher A; Department of Physiology, McGill University, Montreal, Canada.
Park J; Department of Biochemistry, McGill University, Montreal, Canada.
Berghuis AM; Department of Biochemistry, McGill University, Montreal, Canada.
Hoffer MJV; Department of Clinical Genetics, Leiden University Medical Center, Leiden, the Netherlands.
Hilhorst-Hofstee Y; Department of Clinical Genetics, Leiden University Medical Center, Leiden, the Netherlands.
McKinney RA; Department of Pharmacology and Therapeutics, McGill University, Montreal, Canada.
Orlowski J; Department of Physiology, McGill University, Montreal, Canada. Electronic address: john.orlowski@mcgill.ca.

Neurobiol Dis ; 121: 187-204, 2019 01.

Article in En | MEDLINE | ID: mdl-30296617

Subject(s)

Ataxia/genetics; Ataxia/pathology; Endosomes/metabolism; Epilepsy/genetics; Epilepsy/pathology; Gain of Function Mutation; Genetic Diseases, X-Linked/genetics; Genetic Diseases, X-Linked/pathology; Intellectual Disability/genetics; Intellectual Disability/pathology; Microcephaly/genetics; Microcephaly/pathology; Neurons/pathology; Ocular Motility Disorders/genetics; Ocular Motility Disorders/pathology; Sodium-Hydrogen Exchangers/genetics; Adult; Animals; Atrophy; Cricetulus; Dendrites/pathology; Extracellular Vesicles/metabolism; HeLa Cells; Hippocampus/pathology; Humans; Male; Mutation, Missense; Sodium-Hydrogen Exchangers/chemistry; Young Adult

Key words

Alkali cation/proton exchangers SLC9A6/NHE6; Christianson Syndrome; Endosomal pH homeostasis; Membrane trafficking; Neurodegeneration; X-linked intellectual disability

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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Endosomes / Ataxia / Ocular Motility Disorders / Sodium-Hydrogen Exchangers / Genetic Diseases, X-Linked / Epilepsy / Gain of Function Mutation / Intellectual Disability / Microcephaly / Neurons Type of study: Risk_factors_studies Limits: Adult / Animals / Humans / Male Language: En Journal: Neurobiol Dis Journal subject: NEUROLOGIA Year: 2019 Type: Article Affiliation country: Canada

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