A potential gain-of-function variant of SLC9A6 leads to endosomal alkalinization and neuronal atrophy associated with Christianson Syndrome-Reference-Cited by-同舟云学术

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

Published:2019-01 Issue: Volume:121 Page:187-204
ISSN:0969-9961
Container-title:Neurobiology of Disease
language:en
Short-container-title:Neurobiology of Disease

Author:

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

Funder

Canadian Institutes of Health Research

McGill Faculty of Medicine

Publisher

Elsevier BV

Subject

Neurology

Reference71 articles.

1. Transferrin recycling and dextran transport to lysosomes is differentially affected by bafilomycin, nocodazole, and low temperature;Baravalle;Cell Tissue Res.,2005

2. Calnexin: a membrane-bound chaperone of the endoplasmic reticulum;Bergeron;Trends Biochem. Sci.,1994

3. Human Na+/H+ exchanger isoform 6 is found in recycling endosomes of cells, not in mitochondria;Brett;Am. J. Physiol. Cell Physiol.,2002

4. Extracellular vesicles round off communication in the nervous system;Budnik;Nat. Rev. Neurosci.,2016

5. Exosomes contain ubiquitinated proteins;Buschow;Blood Cells Mol. Dis.,2005

Cited by 23 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Christianson syndrome across the lifespan: genetic mutations and longitudinal study in children, adolescents, and adults;Journal of Medical Genetics;2024-09-05

2. Smart Nanoscale Extracellular Vesicles in the Brain: Unveiling their Biology, Diagnostic Potential, and Therapeutic Applications;ACS Applied Materials & Interfaces;2024-02-05

3. Christianson Syndrome across the Lifespan: An International Longitudinal Study in Children, Adolescents, and Adults;2023-11-12

4. Functional analysis of two SLC9A6 frameshift variants in lymphoblastoid cells from patients with Christianson syndrome;CNS Neuroscience & Therapeutics;2023-06-28

5. Altered distribution and localization of organellar Na+/H+ exchangers in postmortem schizophrenia dorsolateral prefrontal cortex;Translational Psychiatry;2023-02-02

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