PMC Links for Nucleotide (Select 1677556732) - PMC

Select item 54820591.

Hypoxia-induced mobilization of NHE6 to the plasma membrane triggers endosome hyperacidification and chemoresistance

Fabrice Lucien, Pierre-Paul Pelletier, Roxane R. Lavoie, Jean-Michel Lacroix, Sébastien Roy, Jean-Luc Parent, Dominique Arsenault, Kelly Harper, Claire M. Dubois

Nat Commun. 2017; 8: 15884. Published online 2017 Jun 21. doi: 10.1038/ncomms15884

PMCID:: PMC5482059

Abstract Article PDF–1.9M

Select item 50106922.

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

Abstract Article PDF–2.6M

Select item 28475323.

The Na⁺/H⁺ Exchanger NHE6 in the Endosomal Recycling System Is Involved in the Development of Apical Bile Canalicular Surface Domains in HepG2 Cells

Ryuichi Ohgaki, Masafumi Matsushita, Hiroshi Kanazawa, Satoshi Ogihara, Dick Hoekstra, Sven C.D. van IJzendoorn

Mol Biol Cell. 2010 Apr 1; 21(7): 1293–1304. doi: 10.1091/mbc.E09-09-0767

PMCID:: PMC2847532

Abstract Article PDF–2.3M

Select item 17342364.

X linked severe mental retardation, craniofacial dysmorphology, epilepsy, ophthalmoplegia, and cerebellar atrophy in a large South African kindred is localised to Xq24-q27

A. Christianson, R. Stevenson, C H van der Meyden, J. Pelser, F. Theron, P. L van Rensburg, M. Chandler, C. Schwartz

J Med Genet. 1999 Oct; 36(10): 759–766. doi: 10.1136/jmg.36.10.759

PMCID:: PMC1734236

Summary PDF–176K

Select item 69202585.

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

Abstract Article PDF–1.1M

Select item 68932316.

Functional Assessment In Vivo of the Mouse Homolog of the Human Ala-9-Ser NHE6 Variant

Qing Ouyang, Lena Joesch-Cohen, Sasmita Mishra, Hasib A. Riaz, Michael Schmidt, Eric M. Morrow

eNeuro. 2019 Nov-Dec; 6(6): ENEURO.0046-19.2019. Prepublished online 2019 Nov 1. Published online 2019 Nov 24. doi: 10.1523/ENEURO.0046-19.2019

PMCID:: PMC6893231

Abstract Article PDF–3.5M

Select item 50215307.

Emerging roles of alkali cation/proton exchangers in organellar homeostasis

John Orlowski, Sergio Grinstein

Curr Opin Cell Biol. Author manuscript; available in PMC 2016 Sep 13.

Published in final edited form as: Curr Opin Cell Biol. 2007 Aug; 19(4): 483–492. Published online 2007 Jul 23. doi: 10.1016/j.ceb.2007.06.001

PMCID:: PMC5021530

Abstract Article PDF–921K

Select item 24272078.

SLC9A6 Mutations Cause X-Linked Mental Retardation, Microcephaly, Epilepsy, and Ataxia, a Phenotype Mimicking Angelman Syndrome

Gregor D. Gilfillan, Kaja K. Selmer, Ingrid Roxrud, Raffaella Smith, Mårten Kyllerman, Kristin Eiklid, Mette Kroken, Morten Mattingsdal, Thore Egeland, Harald Stenmark, Hans Sjøholm, Andres Server, Lena Samuelsson, Arnold Christianson, Patrick Tarpey, Annabel Whibley, Michael R. Stratton, P. Andrew Futreal, Jon Teague, Sarah Edkins, Jozef Gecz, Gillian Turner, F. Lucy Raymond, Charles Schwartz, Roger E. Stevenson, Dag E. Undlien, Petter Strømme

Am J Hum Genet. 2008 Apr 11; 82(4): 1003–1010. Published online 2008 Apr 4. doi: 10.1016/j.ajhg.2008.01.013

PMCID:: PMC2427207

Abstract Article PDF–801K

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