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Items: 1 to 20 of 500

1.
Functional analysis of two SLC9A6 frameshift variants in lymphoblastoid cells from patients with Christianson syndrome
Hailan He, Huiwen Zhang, Hui Chen, Fang He, Fei Yin, Tobias Stauber, Xiaomin Zou, Jing Peng
CNS Neurosci Ther. 2023 Dec; 29(12): 4059–4069. Published online 2023 Jun 28. doi: 10.1111/cns.14329
PMCID:
PMC10651982
ArticlePubReaderPDF–6.3MCite
2.
Clinical and genetic analysis of Christianson syndrome caused by variant of SLC9A6: case report and literature review
Yan Dong, Ruofei Lian, Liang Jin, Shichao Zhao, Wenpeng Tao, Lijun Wang, Mengchun Li, Tianming Jia, Xuejing Chen, Shushi Cao
Front Neurol. 2023; 14: 1152696. Published online 2023 May 5. doi: 10.3389/fneur.2023.1152696
PMCID:
PMC10196350
ArticlePubReaderPDF–11MCite
3.
Donor Splice Site Variant in SLC9A6 Causes Christianson Syndrome in a Lithuanian Family: A Case Report
Gunda Petraitytė, Violeta Mikštienė, Evelina Siavrienė, Loreta Cimbalistienė, Živilė Maldžienė, Tautvydas Rančelis, Evelina Marija Vaitėnienė, Laima Ambrozaitytė, Justas Dapkūnas, Ramūnas Dzindzalieta, Erinija Pranckevičienė, Vaidutis Kučinskas, Algirdas Utkus, Eglė Preikšaitienė
Medicina (Kaunas) 2022 Mar; 58(3): 351. Published online 2022 Feb 26. doi: 10.3390/medicina58030351
PMCID:
PMC8949093
ArticlePubReaderPDF–1.3MCite
4.
Case Report: Novel SLC9A6 Splicing Variant in a Chinese Boy With Christianson Syndrome With Electrical Status Epilepticus During Sleep
Xiaorui Liu, Lingling Xie, Zhixu Fang, Li Jiang
Front Neurol. 2021; 12: 796283. Published online 2022 Jan 14. doi: 10.3389/fneur.2021.796283
PMCID:
PMC8795361
ArticlePubReaderPDF–1.1MCite
5.
Christianson syndrome: A novel splicing variant of SLC9A6 causes exon skipping in a Chinese boy and a literature review
Xiaoge Zhang, Xiaofang Wu, Hongli Liu, Tingting Song, Yongsheng Jiang, Hanhan He, Shaoqing Yang, Yun Xie
J Clin Lab Anal. 2022 Jan; 36(1): e24123. Published online 2021 Nov 17. doi: 10.1002/jcla.24123
PMCID:
PMC8761434
ArticlePubReaderPDF–1.1MCite
6.
Case Report: Christianson Syndrome Caused by SLC9A6 Mutation: From Case to Genotype-Phenotype Analysis
Yueyun Lan, Sheng Yi, Mengting Li, Jinqiu Wang, Qi Yang, Shang Yi, Fei Chen, Limei Huang, Yiyan Ruan, Yiping Shen, Jingsi Luo, Zailong Qin
Front Genet. 2021; 12: 783841. Published online 2021 Dec 20. doi: 10.3389/fgene.2021.783841
PMCID:
PMC8721738
ArticlePubReaderPDF–1.7MCite
7.
Loss of Christianson Syndrome Na+/H+ Exchanger 6 (NHE6) Causes Abnormal Endosome Maturation and Trafficking Underlying Lysosome Dysfunction in Neurons
Matthew F. Pescosolido, Qing Ouyang, Judy S. Liu, Eric M. Morrow
J Neurosci. 2021 Nov 3; 41(44): 9235–9256. doi: 10.1523/JNEUROSCI.1244-20.2021
PMCID:
PMC8570832
ArticlePubReaderPDF–8.2MCite
8.
Human iPSC lines from a Christianson syndrome patient with NHE6 W523X mutation, a biologically-related control, and CRISPR/Cas9 gene-corrected isogenic controls
Li Ma, Michael Schmidt, Eric M. Morrow
Stem Cell Res. Author manuscript; available in PMC 2021 Aug 19.
Published in final edited form as: Stem Cell Res. 2021 Jul; 54: 102435. Published online 2021 Jun 18. doi: 10.1016/j.scr.2021.102435
PMCID:
PMC8375322
ArticlePubReaderPDF–591KCite
9.
Human neurons from Christianson syndrome iPSCs reveal mutation-specific responses to rescue strategies
Sofia B. Lizarraga, Li Ma, Abbie M. Maguire, Laura I. van Dyck, Qing Wu, Qing Ouyang, Brian C. Kavanaugh, Dipal Nagda, Liane L. Livi, Matthew F. Pescosolido, Michael Schmidt, Shanique Alabi, Mara H. Cowen, Paul Brito-Vargas, Diane Hoffman-Kim, Ece D. Gamsiz Uzun, Avner Schlessinger, Richard N. Jones, Eric M. Morrow
Sci Transl Med. Author manuscript; available in PMC 2021 Aug 10.
Published in final edited form as: Sci Transl Med. 2021 Feb 10; 13(580): eaaw0682. doi: 10.1126/scitranslmed.aaw0682
PMCID:
PMC7888381
ArticlePubReaderPDF–2.1MCite
10.
Loss of SLC9A6/NHE6 impairs nociception in a mouse model of Christianson syndrome
Hugues Petitjean, Tarheen Fatima, Stephanie Mouchbahani-Constance, Albena Davidova, Catherine E. Ferland, John Orlowski, Reza Sharif-Naeini
Pain. 2020 Nov; 161(11): 2619–2628. Published online 2020 Jun 15. doi: 10.1097/j.pain.0000000000001961
PMCID:
PMC7566297
ArticlePubReaderPDF–973KCite
11.
Assorted dysfunctions of endosomal alkali cation/proton exchanger SLC9A6 variants linked to Christianson syndrome
Alina Ilie, Annie Boucher, Jaeok Park, Albert Marinus Berghuis, R. Anne McKinney, John Orlowski
J Biol Chem. 2020 May 15; 295(20): 7075–7095. Published online 2020 Apr 10. doi: 10.1074/jbc.RA120.012614
PMCID:
PMC7242699
ArticlePubReaderPDF–3.8MCite
12.
Epilepsy in Christianson syndrome: Two cases of Lennox–Gastaut syndrome and a review of literature
Azusa Ikeda, Ayako Yamamoto, Kazushi Ichikawa, Yu Tsuyusaki, Megumi Tsuji, Mizue Iai, Yumi Enomoto, Hiroaki Murakami, Kenji Kurosawa, Satoko Miyatake, Naomichi Matsumoto, Tomohide Goto
Epilepsy Behav Rep. 2020; 13: 100349. Published online 2019 Dec 5. doi: 10.1016/j.ebr.2019.100349
PMCID:
PMC6920258
ArticlePubReaderPDF–1.1MCite
13.
A novel splicing mutation in SLC9A6 in a boy with Christianson syndrome
Daisuke Ieda, Ikumi Hori, Yuji Nakamura, Kei Ohashi, Yutaka Negishi, Ayako Hattori, Atsuko Arisaka, Setsuko Hasegawa, Shinji Saitoh
Hum Genome Var. 2019; 6: 15. Published online 2019 Mar 25. doi: 10.1038/s41439-019-0046-x
PMCID:
PMC6434044
ArticlePubReaderPDF–679KCite
14.
A Christianson syndrome-linked deletion mutation (∆287ES288) in SLC9A6 disrupts recycling endosomal function and elicits neurodegeneration and cell death
Alina Ilie, Andy Y. L. Gao, Jonathan Reid, Annie Boucher, Cassandra McEwan, Hervé Barrière, Gergely L. Lukacs, R. Anne McKinney, John Orlowski
Mol Neurodegener. 2016; 11(1): 63. Published online 2016 Sep 2. doi: 10.1186/s13024-016-0129-9
PMCID:
PMC5010692
ArticlePubReaderPDF–2.6MCite
15.
Genetic and phenotypic diversity of NHE6 mutations in Christianson syndrome
Matthew F. Pescosolido, David M. Stein, Michael Schmidt, Christelle Moufawad El Achkar, Mark Sabbagh, Jeffrey M. Rogg, Umadevi Tantravahi, Rebecca L. McLean, Judy S. Liu, Annapurna Poduri, Eric M. Morrow
Ann Neurol. Author manuscript; available in PMC 2015 Oct 1.
Published in final edited form as: Ann Neurol. 2014 Oct; 76(4): 581–593. Published online 2014 Sep 19. doi: 10.1002/ana.24225
PMCID:
PMC4304796
ArticlePubReaderPDF–1.2MCite
16.
Inaugural Christianson Syndrome Association conference: families meeting for the first time
David M Stein, Alan Gerber, Eric M Morrow
J Neurodev Disord. 2014; 6(1): 13. Published online 2014 May 23. doi: 10.1186/1866-1955-6-13
PMCID:
PMC4038054
ArticlePubReaderPDF–136KCite
17.
Christianson syndrome protein NHE6 modulates TrkB endosomal signaling required for neuronal circuit development
Qing Ouyang, Sofia B. Lizarraga, Michael Schmidt, Unikora Yang, Jingyi Gong, Debra Ellisor, Julie A. Kauer, Eric M. Morrow
Neuron. Author manuscript; available in PMC 2014 Oct 2.
Published in final edited form as: Neuron. 2013 Oct 2; 80(1): 10.1016/j.neuron.2013.07.043. Published online 2013 Sep 12. doi: 10.1016/j.neuron.2013.07.043
PMCID:
PMC3830955
ArticlePubReaderPDF–3.5MCite
18.
Natural History of Christianson Syndrome
Richard J. Schroer, Kenton R. Holden, Patrick S. Tarpey, Maria Giselle Matheus, David A. Griesemer, Michael J. Friez, Jane Zheng Fan, Richard J. Simensen, Petter Strømme, Roger E. Stevenson, Michael R. Stratton, Charles E. Schwartz
Am J Med Genet A. Author manuscript; available in PMC 2013 Jul 2.
Published in final edited form as: Am J Med Genet A. 2010 Nov; 0(11): 2775–2783. doi: 10.1002/ajmg.a.33093
PMCID:
PMC3698558
ArticlePubReaderPDF–1.5MCite
19.
X-linked Angelman-like syndrome caused by Slc9a6 knockout in mice exhibits evidence of endosomal–lysosomal dysfunction
Petter Strømme, Kostantin Dobrenis, Roy V. Sillitoe, Maria Gulinello, Nafeeza F. Ali, Cristin Davidson, Matthew C. Micsenyi, Gloria Stephney, Linda Ellevog, Arne Klungland, Steven U. Walkley
Brain. 2011 Nov; 134(11): 3369–3383. Published online 2011 Sep 29. doi: 10.1093/brain/awr250
PMCID:
PMC3212719
ArticlePubReaderPDF–2.0MCite
20.
Loss of endosomal exchanger NHE6 leads to pathological changes in tau in human neurons
Marty A. Fernandez, Fatmata Bah, Li Ma, YouJin Lee, Michael Schmidt, Elizabeth Welch, Eric M. Morrow, Tracy L. Young-Pearse
Stem Cell Reports. 2022 Sep 13; 17(9): 2111–2126. Published online 2022 Sep 1. doi: 10.1016/j.stemcr.2022.08.001
PMCID:
PMC9481919
ArticlePubReaderPDF–4.4MCite

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