BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

326 related articles for article (PubMed ID: 27590723)

  • 1. 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
    Mol Neurodegener; 2016 Sep; 11(1):63. PubMed ID: 27590723
    [TBL] [Abstract][Full Text] [Related]  

  • 2. A potential gain-of-function variant of SLC9A6 leads to endosomal alkalinization and neuronal atrophy associated with Christianson Syndrome.
    Ilie A; Gao AYL; Boucher A; Park J; Berghuis AM; Hoffer MJV; Hilhorst-Hofstee Y; McKinney RA; Orlowski J
    Neurobiol Dis; 2019 Jan; 121():187-204. PubMed ID: 30296617
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Loss of Christianson Syndrome Na
    Pescosolido MF; Ouyang Q; Liu JS; Morrow EM
    J Neurosci; 2021 Nov; 41(44):9235-9256. PubMed ID: 34526390
    [TBL] [Abstract][Full Text] [Related]  

  • 4. A Christianson syndrome-linked deletion mutation (Δ287ES288) in SLC9A6 impairs hippocampal neuronal plasticity.
    Gao AYL; Ilie A; Chang PKY; Orlowski J; McKinney RA
    Neurobiol Dis; 2019 Oct; 130():104490. PubMed ID: 31175985
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Impaired posttranslational processing and trafficking of an endosomal Na+/H+ exchanger NHE6 mutant (Δ(370)WST(372)) associated with X-linked intellectual disability and autism.
    Ilie A; Weinstein E; Boucher A; McKinney RA; Orlowski J
    Neurochem Int; 2014 Jul; 73():192-203. PubMed ID: 24090639
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Assorted dysfunctions of endosomal alkali cation/proton exchanger
    Ilie A; Boucher A; Park J; Berghuis AM; McKinney RA; Orlowski J
    J Biol Chem; 2020 May; 295(20):7075-7095. PubMed ID: 32277048
    [TBL] [Abstract][Full Text] [Related]  

  • 7. X-linked Christianson syndrome: heterozygous female Slc9a6 knockout mice develop mosaic neuropathological changes and related behavioral abnormalities.
    Sikora J; Leddy J; Gulinello M; Walkley SU
    Dis Model Mech; 2016 Jan; 9(1):13-23. PubMed ID: 26515654
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Amyloid clearance defect in ApoE4 astrocytes is reversed by epigenetic correction of endosomal pH.
    Prasad H; Rao R
    Proc Natl Acad Sci U S A; 2018 Jul; 115(28):E6640-E6649. PubMed ID: 29946028
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Pathobiology of Christianson syndrome: Linking disrupted endosomal-lysosomal function with intellectual disability and sensory impairments.
    Kerner-Rossi M; Gulinello M; Walkley S; Dobrenis K
    Neurobiol Learn Mem; 2019 Nov; 165():106867. PubMed ID: 29772390
    [TBL] [Abstract][Full Text] [Related]  

  • 10. A novel mutation in the endosomal Na+/H+ exchanger NHE6 (SLC9A6) causes Christianson syndrome with electrical status epilepticus during slow-wave sleep (ESES).
    Zanni G; Barresi S; Cohen R; Specchio N; Basel-Vanagaite L; Valente EM; Shuper A; Vigevano F; Bertini E
    Epilepsy Res; 2014 May; 108(4):811-5. PubMed ID: 24630051
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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
    Am J Med Genet A; 2016 Aug; 170(8):2103-10. PubMed ID: 27256868
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Loss of SLC9A6/NHE6 impairs nociception in a mouse model of Christianson syndrome.
    Petitjean H; Fatima T; Mouchbahani-Constance S; Davidova A; Ferland CE; Orlowski J; Sharif-Naeini R
    Pain; 2020 Nov; 161(11):2619-2628. PubMed ID: 32569089
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Christianson syndrome: A novel splicing variant of SLC9A6 causes exon skipping in a Chinese boy and a literature review.
    Zhang X; Wu X; Liu H; Song T; Jiang Y; He H; Yang S; Xie Y
    J Clin Lab Anal; 2022 Jan; 36(1):e24123. PubMed ID: 34791706
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Mixed Neurodevelopmental and Neurodegenerative Pathology in
    Xu M; Ouyang Q; Gong J; Pescosolido MF; Pruett BS; Mishra S; Schmidt M; Jones RN; Gamsiz Uzun ED; Lizarraga SB; Morrow EM
    eNeuro; 2017; 4(6):. PubMed ID: 29349289
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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
    Ann Neurol; 2014 Oct; 76(4):581-93. PubMed ID: 25044251
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Early lysosome defects precede neurodegeneration with amyloid-β and tau aggregation in NHE6-null rat brain.
    Lee Y; Miller MR; Fernandez MA; Berg EL; Prada AM; Ouyang Q; Schmidt M; Silverman JL; Young-Pearse TL; Morrow EM
    Brain; 2022 Sep; 145(9):3187-3202. PubMed ID: 34928329
    [TBL] [Abstract][Full Text] [Related]  

  • 17. The expanding phenotypic spectrum of female SLC9A6 mutation carriers: a case series and review of the literature.
    Sinajon P; Verbaan D; So J
    Hum Genet; 2016 Aug; 135(8):841-50. PubMed ID: 27142213
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Novel c.1505_1509dupCTGCC pathogenic variation in a male case with Christianson syndrome.
    Yalcintepe S; Gurkan H
    Clin Dysmorphol; 2021 Jan; 30(1):36-38. PubMed ID: 33278113
    [TBL] [Abstract][Full Text] [Related]  

  • 19. X-linked Angelman-like syndrome caused by Slc9a6 knockout in mice exhibits evidence of endosomal-lysosomal dysfunction.
    Strømme P; Dobrenis K; Sillitoe RV; Gulinello M; Ali NF; Davidson C; Micsenyi MC; Stephney G; Ellevog L; Klungland A; Walkley SU
    Brain; 2011 Nov; 134(Pt 11):3369-83. PubMed ID: 21964919
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Loss of endosomal exchanger NHE6 leads to pathological changes in tau in human neurons.
    Fernandez MA; Bah F; Ma L; Lee Y; Schmidt M; Welch E; Morrow EM; Young-Pearse TL
    Stem Cell Reports; 2022 Sep; 17(9):2111-2126. PubMed ID: 36055242
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 17.