| A novel peptide encoded by circ-SLC9A6 promotes lipid dyshomeostasis through the regulation of H4K16ac-mediated CD36 transcription in NAFLD. | A novel peptide encoded by circ-SLC9A6 promotes lipid dyshomeostasis through the regulation of H4K16ac-mediated CD36 transcription in NAFLD.
Wang Y, Tian X, Wang Z, Liu D, Zhao X, Sun X, Tu Z, Li Z, Zhao Y, Zheng S, Yao J., Free PMC Article | 09/13/2024 |
| Genes for endosomal pH regulators NHE6 and NHE9 are dysregulated in the substantia nigra in Parkinson's disease. | Genes for endosomal pH regulators NHE6 and NHE9 are dysregulated in the substantia nigra in Parkinson's disease.
Prasad H. | 07/29/2024 |
| Targeting NHE6 gene expression identifies lysosome and neurodevelopmental mechanisms in a haploid in vitro cell model. | Targeting NHE6 gene expression identifies lysosome and neurodevelopmental mechanisms in a haploid in vitro cell model.
Wu Q, Ma L, Joesch-Cohen L, Schmidt M, Uzun EDG, Morrow EM., Free PMC Article | 11/30/2023 |
| Functional analysis of two SLC9A6 frameshift variants in lymphoblastoid cells from patients with Christianson syndrome. | Functional analysis of two SLC9A6 frameshift variants in lymphoblastoid cells from patients with Christianson syndrome.
He H, Zhang H, Chen H, He F, Yin F, Stauber T, Zou X, Peng J., Free PMC Article | 11/20/2023 |
| Structural and functional implications of SLC13A3 and SLC9A6 mutations: an in silico approach to understanding intellectual disability. | Structural and functional implications of SLC13A3 and SLC9A6 mutations: an in silico approach to understanding intellectual disability.
Hussain SI, Muhammad N, Shah SUD, Fardous F, Khan SA, Khan N, Rehman AU, Siddique M, Wasan SA, Niaz R, Ullah H, Khan N, Muhammad N, Mirza MU, Wasif N, Khan S., Free PMC Article | 11/1/2023 |
| SCAMP5 plays a critical role in axonal trafficking and synaptic localization of NHE6 to adjust quantal size at glutamatergic synapses. | SCAMP5 plays a critical role in axonal trafficking and synaptic localization of NHE6 to adjust quantal size at glutamatergic synapses.
Lee U, Choi C, Ryu SH, Park D, Lee SE, Kim K, Kim Y, Chang S., Free PMC Article | 05/15/2021 |
| Assorted dysfunctions of endosomal alkali cation/proton exchanger SLC9A6 variants linked to Christianson syndrome. | Assorted dysfunctions of endosomal alkali cation/proton exchanger SLC9A6 variants linked to Christianson syndrome.
Ilie A, Boucher A, Park J, Berghuis AM, McKinney RA, Orlowski J., Free PMC Article | 12/26/2020 |
| NHE6 role in the neoplasm chemoresistance.NHE6 transport from endosomes to the plasma membrane triggers endosome hyperacidification. | Hypoxia-induced mobilization of NHE6 to the plasma membrane triggers endosome hyperacidification and chemoresistance.
Lucien F, Pelletier PP, Lavoie RR, Lacroix JM, Roy S, Parent JL, Arsenault D, Harper K, Dubois CM., Free PMC Article | 01/19/2019 |
| membrane trafficking of the ES mutant in SLC9A6was impaired and elicited marked reductions in total dendritic length, area and arborization, and triggered apoptotic cell death | A Christianson syndrome-linked deletion mutation (∆(287)ES(288)) in SLC9A6 disrupts recycling endosomal function and elicits neurodegeneration and cell death.
Ilie A, Gao AY, Reid J, Boucher A, McEwan C, Barrière H, Lukacs GL, McKinney RA, Orlowski J., Free PMC Article | 11/11/2017 |
| by sequencing panels of genes in patients with no precise clinical diagnosis, NGS can broaden the clinical variability associated with a known gene. We also argue that SLC9A6 gene mutations in females could be responsible for a monogenic cause of mild learning disability/constitutive speech disorders. | A new family with an SLC9A6 mutation expanding the phenotypic spectrum of Christianson syndrome.
Masurel-Paulet A, Piton A, Chancenotte S, Redin C, Thauvin-Robinet C, Henrenger Y, Minot D, Creppy A, Ruffier-Bourdet M, Thevenon J, Kuentz P, Lehalle D, Curie A, Blanchard G, Ghosn E, Bonnet M, Archimbaud-Devilliers M, Huet F, Perret O, Philip N, Mandel JL, Faivre L. | 10/28/2017 |
| We describe a large extended family with three affected males, four carrier females, one presumed carrier female and one obligate carrier female with a c.190G>T, p.E64X mutation known to cause a premature stop codon in SLC9A6 | The expanding phenotypic spectrum of female SLC9A6 mutation carriers: a case series and review of the literature.
Sinajon P, Verbaan D, So J. | 06/24/2017 |
| Epileptic encephalopathy related to mutations in the SLC9A6 genes. | Diagnostic yield of genetic testing in epileptic encephalopathy in childhood.
Mercimek-Mahmutoglu S, Patel J, Cordeiro D, Hewson S, Callen D, Donner EJ, Hahn CD, Kannu P, Kobayashi J, Minassian BA, Moharir M, Siriwardena K, Weiss SK, Weksberg R, Snead OC 3rd. | 07/25/2015 |
| Data show that co-expression with sodium-hydrogen antiporter NHE6 or treatment with the Na(+)/H(+) ionophore monensin shifted amyloid precursor protein (APP) away from the trans-Golgi network into early and recycling endosomes in HEK293 cells. | The Na+/H+ exchanger NHE6 modulates endosomal pH to control processing of amyloid precursor protein in a cell culture model of Alzheimer disease.
Prasad H, Rao R., Free PMC Article | 05/16/2015 |
| This study demonistrated that Genetic and phenotypic diversity of NHE6 mutations in Christianson syndrome. | Genetic and phenotypic diversity of NHE6 mutations in Christianson syndrome.
Pescosolido MF, Stein DM, Schmidt M, El Achkar CM, Sabbagh M, Rogg JM, Tantravahi U, McLean RL, Liu JS, Poduri A, Morrow EM., Free PMC Article | 12/20/2014 |
| find interesting gene expression changes in endosomal NHE6 and NHE9 in postmortem autism brains. | Genes for endosomal NHE6 and NHE9 are misregulated in autism brains.
Schwede M, Garbett K, Mirnics K, Geschwind DH, Morrow EM., Free PMC Article | 11/8/2014 |
| Data indicate SLC9A6 mutations and the clinical uniformity of male patients with Christianson syndrome in two familieis. | Novel SLC9A6 mutations in two families with Christianson syndrome.
Riess A, Rossier E, Krüger R, Dufke A, Beck-Woedl S, Horber V, Alber M, Gläser D, Riess O, Tzschach A. | 12/7/2013 |
| We report on a 22year-old male patient with Christianson syndrome carrying the novel p.Gln306X mutation in SLC9A6 | Novel mutation in SLC9A6 gene in a patient with Christianson syndrome and retinitis pigmentosum.
Mignot C, Héron D, Bursztyn J, Momtchilova M, Mayer M, Whalen S, Legall A, Billette de Villemeur T, Burglen L. | 06/29/2013 |
| The involvement of SLC9A6 mutations in 22 males initially suspected to have Angelman syndrome (AS) but found on genetic testing not to have AS (AS-like cohort), and 104 male patients with X-linked mental retardation (XMR) (XMR cohort), was investigated. | A loss-of-function mutation in the SLC9A6 gene causes X-linked mental retardation resembling Angelman syndrome.
Takahashi Y, Hosoki K, Matsushita M, Funatsuka M, Saito K, Kanazawa H, Goto Y, Saitoh S. | 01/21/2012 |
| These observations suggest that NHE6 regulates clathrin-dependent endocytosis of transferrin via pH regulation. | Na+/H+ exchanger isoform 6 (NHE6/SLC9A6) is involved in clathrin-dependent endocytosis of transferrin.
Xinhan L, Matsushita M, Numaza M, Taguchi A, Mitsui K, Kanazawa H. | 01/21/2012 |
| In mineralizing osteoblasts, slightly basic basal intracellular pH is maintained, and external acid load is dissipated, by high-capacity Na(+) /H(+) exchange via NHE1 and NHE6. | High capacity Na+/H+ exchange activity in mineralizing osteoblasts.
Liu L, Schlesinger PH, Slack NM, Friedman PA, Blair HC., Free PMC Article | 05/21/2011 |
| This review defines NHE6-9 as organellar NHEs that are fairly dynamic, implying that they are subjected to intracellular trafficking and thus they continuously shuttle between organelles and the plasma membrane. | Organellar Na+/H+ exchangers: novel players in organelle pH regulation and their emerging functions.
Ohgaki R, van IJzendoorn SC, Matsushita M, Hoekstra D, Kanazawa H. | 03/26/2011 |
| NHE6 in the endosomal recycling system is involved in the development of apical bile canalicular surface domains in HepG2 cells | The Na+/H+ exchanger NHE6 in the endosomal recycling system is involved in the development of apical bile canalicular surface domains in HepG2 cells.
Ohgaki R, Matsushita M, Kanazawa H, Ogihara S, Hoekstra D, van Ijzendoorn SC., Free PMC Article | 08/9/2010 |
| NHE6 with alanine substitutions in the membrane-proximal region exhibited no apparent change in localization. | A membrane-proximal region in the C-terminal tail of NHE7 is required for its distribution in the trans-Golgi network, distinct from NHE6 localization at endosomes.
Fukura N, Ohgaki R, Matsushita M, Nakamura N, Mitsui K, Kanazawa H. | 07/19/2010 |
| Analysis identified an in-frame 9 base pair deletion in the solute carrier family 9, isoform A6 (SLC9A6 gene), which encodes sodium/hydrogen exchanger-6 localized to endosomal vesicles. | A mutation affecting the sodium/proton exchanger, SLC9A6, causes mental retardation with tau deposition.
Garbern JY, Neumann M, Trojanowski JQ, Lee VM, Feldman G, Norris JW, Friez MJ, Schwartz CE, Stevenson R, Sima AA., Free PMC Article | 05/31/2010 |
| NHE6 participates in regulation of endosomal pH and provides a basis for understanding loss of NHE6 function leading to a phenotype resembling Angelman syndrome. | Dual degradation mechanisms ensure disposal of NHE6 mutant protein associated with neurological disease.
Roxrud I, Raiborg C, Gilfillan GD, Strømme P, Stenmark H. | 01/21/2010 |