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Select item 81208501.

SLC6A8-mediated intracellular creatine accumulation enhances hypoxic breast cancer cell survival via ameliorating oxidative stress

Qiao Li, Manran Liu, Yan Sun, Ting Jin, Pengpeng Zhu, Xueying Wan, Yixuan Hou, Gang Tu

J Exp Clin Cancer Res. 2021; 40: 168. Published online 2021 May 14. doi: 10.1186/s13046-021-01933-7

PMCID:: PMC8120850

Abstract Article PDF–4.4M

Select item 77803072.

SLC6A8 Knockdown Suppresses the Invasion and Migration of Human Hepatocellular Carcinoma Huh-7 and Hep3B Cells

Lu Yuan, Xian Jian Wu, Wen Chuan Li, Chenyi Zhuo, ZuoMing Xu, Chuan Tan, RiHai Ma, JianChu Wang, Jian Pu

Technol Cancer Res Treat. 2020; 19: 1533033820983029. Published online 2020 Dec 28. doi: 10.1177/1533033820983029

PMCID:: PMC7780307

Abstract Article PDF–2.9M

Select item 77221853.

Oxidative Phosphorylation in Creatine Transporter Deficiency

Shizhe Li, Simona Bianconi, Jan Willem van der Veen, An Dang Do, JoEllyn Stolinski, Kim M. Cecil, Fady Hannah-Shmouni, Forbes D. Porter, Jun Shen

NMR Biomed. Author manuscript; available in PMC 2022 Jan 1.

Published in final edited form as: NMR Biomed. 2021 Jan; 34(1): e4419. Published online 2020 Sep 29. doi: 10.1002/nbm.4419

PMCID:: PMC7722185

Abstract Article PDF–581K

Select item 73893934.

脑肌酸缺乏综合征Ⅰ型两家系临床特征及SLC6A8基因变异分析

孙卫华, 庄丹燕, 王瑶, 肖非凡, 吴梦圆, 董欣然, 张萍, 王慧君, 周文浩, 吴冰冰

Zhongguo Dang Dai Er Ke Za Zhi. 2020 May 15; 22(5): 482–487. Chinese. doi: 10.7499/j.issn.1008-8830.2002012

PMCID:: PMC7389393

Abstract Article PDF–2.6M

Select item 71483545.

Studies of structural determinants of substrate binding in the Creatine Transporter (CreaT, SLC6A8) using molecular models

Claire Colas, Giulia Banci, Riccardo Martini, Gerhard F. Ecker

Sci Rep. 2020; 10: 6241. Published online 2020 Apr 10. doi: 10.1038/s41598-020-63189-z

PMCID:: PMC7148354

Abstract Article PDF–1.8M

Select item 62192556.

A novel SLC6A8 mutation associated with intellectual disabilities in a Chinese family exhibiting creatine transporter deficiency: case report

Qin Wang, Jingxin Yang, Yang Liu, Xingping Li, Fuwei Luo, Jiansheng Xie

BMC Med Genet. 2018; 19: 193. Published online 2018 Nov 6. doi: 10.1186/s12881-018-0707-5

PMCID:: PMC6219255

Abstract Article PDF–904K

Select item 32491877.

Long-term follow-up and treatment in nine boys with X-linked creatine transporter defect

Jiddeke M. van de Kamp, Petra J. W. Pouwels, Femke K. Aarsen, Leontine W. ten Hoopen, Dirk L. Knol, Johannes B. de Klerk, Ireneus F. de Coo, Jan G. M. Huijmans, Cornelis Jakobs, Marjo S. van der Knaap, Gajja S. Salomons, Grazia M. S. Mancini

J Inherit Metab Dis. 2012; 35(1): 141–149. Published online 2011 May 10. doi: 10.1007/s10545-011-9345-1

PMCID:: PMC3249187

Abstract Article PDF–329K

Select item 12261368.

X-Linked Creatine-Transporter Gene (SLC6A8) Defect: A New Creatine-Deficiency Syndrome

Gajja S. Salomons, Silvy J. M. van Dooren, Nanda M. Verhoeven, Kim M. Cecil, William S. Ball, Ton J. Degrauw, Cornelis Jakobs

Am J Hum Genet. 2001 Jun; 68(6): 1497–1500. Published online 2001 Apr 20. doi: 10.1086/320595

PMCID:: PMC1226136

Abstract Article PDF–182K

Select item 11820669.

Comparative Frequency of Fragile-X (FMR1) and Creatine Transporter (SLC6A8) Mutations in X-Linked Mental Retardation

J. L. Mandel

Am J Hum Genet. 2004 Oct; 75(4): 730–731. doi: 10.1086/424821

PMCID:: PMC1182066

Article PDF–349K

Select item 118201310.

High Prevalence of SLC6A8 Deficiency in X-Linked Mental Retardation

Efraim H. Rosenberg, Ligia S. Almeida, Tjitske Kleefstra, Rose S. deGrauw, Helger G. Yntema, Nadia Bahi, Claude Moraine, Hans-Hilger Ropers, Jean-Pierre Fryns, Ton J. deGrauw, Cornelis Jakobs, Gajja S. Salomons

Am J Hum Genet. 2004 Jul; 75(1): 97–105. Published online 2004 May 20. doi: 10.1086/422102

PMCID:: PMC1182013

Abstract Article PDF–677K

Select item 789184611.

Creatine Transporter, Reduced in Colon Tissues From Patients With Inflammatory Bowel Diseases, Regulates Energy Balance in Intestinal Epithelial Cells, Epithelial Integrity, and Barrier Function

Caroline H.T. Hall, Lee J. Scott, Emily M. Murphy, Mark E. Gerich, Rachael Dran, Louis E. Glover, Zuhair I Abdulla, Matthew R Skelton, Sean P. Colgan

Gastroenterology. Author manuscript; available in PMC 2021 Sep 1.

Published in final edited form as: Gastroenterology. 2020 Sep; 159(3): 984–998.e1. Published online 2020 May 17. doi: 10.1053/j.gastro.2020.05.033

PMCID:: PMC7891846

Abstract Article PDF–2.9M

Select item 229066512.

Human, rat and chicken small intestinal Na⁺-Cl⁻-creatine transporter: functional, molecular characterization and localization

M J Peral, M García-Delgado, M L Calonge, J M Durán, M C De La Horra, T Wallimann, O Speer, A A Ilundáin

J Physiol. 2002 Nov 15; 545(Pt 1): 133–144. Published online 2002 Sep 27. doi: 10.1113/jphysiol.2002.026377

PMCID:: PMC2290665

Abstract Article PDF–687K

Select item 44761013.

X-Linked Mental Retardation with Seizures and Carrier Manifestations Is Caused by a Mutation in the Creatine-Transporter Gene (SLC6A8) Located in Xq28

Kimberly A. Hahn, Gajja S. Salomons, Darci Tackels-Horne, Tim C. Wood, Harold A. Taylor, Richard J. Schroer, Herbert A. Lubs, Cornelis Jakobs, Rick L. Olson, Kenton R. Holden, Roger E. Stevenson, Charles E. Schwartz

Am J Hum Genet. 2002 May; 70(5): 1349–1356. Published online 2002 Mar 15. doi: 10.1086/340092

PMCID:: PMC447610

Abstract Article PDF–431K

Select item 372330814.

The cataract and glucosuria associated monocarboxylate transporter MCT12 is a new creatine transporter

Jeannette Abplanalp, Endre Laczko, Nancy J. Philp, John Neidhardt, Jurian Zuercher, Philipp Braun, Daniel F. Schorderet, Francis L. Munier, François Verrey, Wolfgang Berger, Simone M.R. Camargo, Barbara Kloeckener-Gruissem

Hum Mol Genet. 2013 Aug 15; 22(16): 3218–3226. Published online 2013 Apr 10. doi: 10.1093/hmg/ddt175

PMCID:: PMC3723308

Abstract Article PDF–325K

Select item 311004015.

Hybridisation-based resequencing of 17 X-linked intellectual disability genes in 135 patients reveals novel mutations in ATRX, SLC6A8 and PQBP1

Lars R Jensen, Wei Chen, Bettina Moser, Bettina Lipkowitz, Christopher Schroeder, Luciana Musante, Andreas Tzschach, Vera M Kalscheuer, Ilaria Meloni, Martine Raynaud, Hilde van Esch, Jamel Chelly, Arjan P M de Brouwer, Anna Hackett, Sigrun van der Haar, Wolfram Henn, Jozef Gecz, Olaf Riess, Michael Bonin, Richard Reinhardt, Hans-Hilger Ropers, Andreas W Kuss

Eur J Hum Genet. 2011 Jun; 19(6): 717–720. Published online 2011 Jan 26. doi: 10.1038/ejhg.2010.244

PMCID:: PMC3110040

Abstract Article PDF–227K

Select item 271321616.

Developmental changes in the expression of creatine synthesizing enzymes and creatine transporter in a precocial rodent, the spiny mouse

Zoe Ireland, Aaron P Russell, Theo Wallimann, David W Walker, Rod Snow

BMC Dev Biol. 2009; 9: 39. Published online 2009 Jul 1. doi: 10.1186/1471-213X-9-39

PMCID:: PMC2713216

Abstract Article PDF–833K

Select item 624272717.

Stasimon/Tmem41b localizes to mitochondria-associated ER membranes and is essential for mouse embryonic development

Meaghan Van Alstyne, Francesco Lotti, Andrea Dal Mas, Estela Area Gomez, Livio Pellizzoni

Biochem Biophys Res Commun. Author manuscript; available in PMC 2019 Nov 30.

Published in final edited form as: Biochem Biophys Res Commun. 2018 Nov 30; 506(3): 463–470. Published online 2018 Oct 22. doi: 10.1016/j.bbrc.2018.10.073

PMCID:: PMC6242727

Abstract Article PDF–910K

Select item 694423818.

Proteomic Analysis Reveals a Role for RSK in p120-catenin Phosphorylation and Melanoma Cell-Cell Adhesion

Antoine Méant, Beichen Gao, Geneviève Lavoie, Sami Nourreddine, Flora Jung, Léo Aubert, Joseph Tcherkezian, Anne-Claude Gingras, Philippe P. Roux

Mol Cell Proteomics. 2020 Jan; 19(1): 50–64. Published online 2019 Nov 2. doi: 10.1074/mcp.RA119.001811

PMCID:: PMC6944238

Abstract Article PDF–5.7M

Select item 766412019.

Quantitative Proteomics Links the LRRC59 Interactome to mRNA Translation on the ER Membrane

Molly M. Hannigan, Alyson M. Hoffman, J. Will Thompson, Tianli Zheng, Christopher V. Nicchitta

Mol Cell Proteomics. 2020 Nov; 19(11): 1826–1849. Published online 2020 Aug 10. doi: 10.1074/mcp.RA120.002228

PMCID:: PMC7664120

Abstract Article PDF–4.8M

Select item 1091686620.

Cooperative polarization of MCAM/CD146 and ERM family proteins in melanoma

Suzannah G. Miller, Maria Hoh, Christopher C. Ebmeier, Jian Wei Tay, Natalie G. Ahn

Mol Biol Cell. 2024 Mar 1; 35(3): ar31. Published online 2024 Jan 29. doi: 10.1091/mbc.E23-06-0255

PMCID:: PMC10916866

Abstract Article PDF–4.7M

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