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Items: 1 to 20 of 29

1.
Dodecyl creatine ester improves cognitive function and identifies key protein drivers including KIF1A and PLCB1 in a mouse model of creatine transporter deficiency
Aloïse Mabondzo, Rania Harati, Léa Broca-Brisson, Anne-Cécile Guyot, Narciso Costa, Francesco Cacciante, Elena Putignano, Laura Baroncelli, Matthew R. Skelton, Cathy Saab, Emmanuelle Martini, Henri Benech, Thomas Joudinaud, Jean-Charles Gaillard, Jean Armengaud, Rifat Hamoudi
Front Mol Neurosci. 2023; 16: 1118707. Published online 2023 Mar 24. doi: 10.3389/fnmol.2023.1118707
PMCID:
PMC10103630
AbstractArticlePDF–4.1M
2.
Cell-specific vulnerability to metabolic failure: the crucial role of parvalbumin expressing neurons in creatine transporter deficiency
Elsa Ghirardini, Giulia Sagona, Angel Marquez-Galera, Francesco Calugi, Carmen M. Navarron, Francesco Cacciante, Siwei Chen, Federica Di Vetta, Lorenzo Dadà, Raffaele Mazziotti, Leonardo Lupori, Elena Putignano, Pierre Baldi, Jose P. Lopez-Atalaya, Tommaso Pizzorusso, Laura Baroncelli
Acta Neuropathol Commun. 2023; 11: 34. Published online 2023 Mar 7. doi: 10.1186/s40478-023-01533-w
PMCID:
PMC9990224
AbstractArticlePDF–6.1M
3.
Creatine transporter deficiency impairs stress adaptation and brain energetics homeostasis
Hong-Ru Chen, Xiaohui Zhang-Brotzge, Yury M. Morozov, Yuancheng Li, Siming Wang, Helen Heju Zhang, Irena S. Kuan, Elizabeth M. Fugate, Hui Mao, Yu-Yo Sun, Pasko Rakic, Diana M. Lindquist, Ton DeGrauw, Chia-Yi Kuan
JCI Insight. 2021 Sep 8; 6(17): e140173. Published online 2021 Sep 8. doi: 10.1172/jci.insight.140173
PMCID:
PMC8492331
AbstractArticlePDF–3.8M
4.
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
AbstractArticlePDF–2.9M
5.
Cyclocreatine treatment ameliorates the cognitive, autistic and epileptic phenotype in a mouse model of Creatine Transporter Deficiency
Francesco Cacciante, Mariangela Gennaro, Giulia Sagona, Raffaele Mazziotti, Leonardo Lupori, Elisa Cerri, Elena Putignano, Mark Butt, Minh-Ha T. Do, John C. McKew, Maria Grazia Alessandrì, Roberta Battini, Giovanni Cioni, Tommaso Pizzorusso, Laura Baroncelli
Sci Rep. 2020; 10: 18361. Published online 2020 Oct 27. doi: 10.1038/s41598-020-75436-4
PMCID:
PMC7591530
AbstractArticlePDF–2.4M
6.
Deletion of the creatine transporter (Slc6a8) in dopaminergic neurons leads to hyperactivity in mice
Zuhair I. Abdulla, Bahar Pahlevani, Kerstin H. Lundgren, Jordan L. Pennington, Kenea C. Udobi, Kim B. Seroogy, Matthew R. Skelton
J Mol Neurosci. Author manuscript; available in PMC 2021 Jan 1.
Published in final edited form as: J Mol Neurosci. 2020 Jan; 70(1): 102–111. Published online 2019 Sep 13. doi: 10.1007/s12031-019-01405-w
PMCID:
PMC7001766
AbstractArticlePDF–1.0M
7.
Deletion of the creatine transporter gene in neonatal, but not adult, mice lead to cognitive deficits.
Kenea C. Udobi, Nicholas Delcimmuto, Amanda N. Kokenge, Zuhair I. Abdulla, Marla K. Perna, Matthew R. Skelton
J Inherit Metab Dis. Author manuscript; available in PMC 2020 Sep 1.
Published in final edited form as: J Inherit Metab Dis. 2019 Sep; 42(5): 966–974. Published online 2019 Jul 4. doi: 10.1002/jimd.12137
PMCID:
PMC6739135
AbstractArticlePDF–920K
8.
Cognitive deficits and increases in creatine precursors in a brain-specific knockout of the creatine transporter gene Slc6a8
K. C. Udobi, A. N. Kokenge, E. R. Hautman, G. Ullio, J. Coene, M. T. Williams, C. V. Vorhees, A. Mabondzo, M. R. Skelton
Genes Brain Behav. Author manuscript; available in PMC 2019 Aug 16.
Published in final edited form as: Genes Brain Behav. 2018 Jul; 17(6): e12461. Published online 2018 Feb 20. doi: 10.1111/gbb.12461
PMCID:
PMC6696915
AbstractArticlePDF–1.0M
9.
A Nervous System-Specific Model of Creatine Transporter Deficiency Recapitulates the Cognitive Endophenotype of the Disease: a Longitudinal Study
Angelo Molinaro, Maria Grazia Alessandrì, Elena Putignano, Vincenzo Leuzzi, Giovanni Cioni, Laura Baroncelli, Tommaso Pizzorusso
Sci Rep. 2019; 9: 62. Published online 2019 Jan 11. doi: 10.1038/s41598-018-37303-1
PMCID:
PMC6329805
AbstractArticlePDF–1.4M
10.
A Mouse Model of Creatine Transporter Deficiency Reveals Impaired Motor Function and Muscle Energy Metabolism
Malte Stockebrand, Ali Sasani, Devashish Das, Sönke Hornig, Irm Hermans-Borgmeyer, Hannah A. Lake, Dirk Isbrandt, Craig A. Lygate, Arend Heerschap, Axel Neu, Chi-Un Choe
Front Physiol. 2018; 9: 773. Published online 2018 Jun 22. doi: 10.3389/fphys.2018.00773
PMCID:
PMC6036259
AbstractArticlePDF–3.7M
11.
Creatine transporter deficiency leads to increased whole-body and cellular metabolism
Marla K. Perna, Amanda N. Kokenge, Keila N. Miles, Kenea C. Udobi, Joseph F. Clark, Gail J. Pyne-Geithman, Zaza Khuchua, Matthew R. Skelton
Amino Acids. Author manuscript; available in PMC 2017 Aug 1.
Published in final edited form as: Amino Acids. 2016 Aug; 48(8): 2057–2065. Published online 2016 Jul 11. doi: 10.1007/s00726-016-2291-3
PMCID:
PMC4975633
AbstractArticlePDF–2.2M
12.
A novel mouse model of creatine transporter deficiency
Laura Baroncelli, Maria Grazia Alessandrì, Jonida Tola, Elena Putignano, Martina Migliore, Elena Amendola, Cornelius Gross, Vincenzo Leuzzi, Giovanni Cioni, Tommaso Pizzorusso
Version 1. F1000Res. 2014; 3: 228. Published online 2014 Sep 29. doi: 10.12688/f1000research.5369.1
PMCID:
PMC4243761
AbstractArticlePDF–888K
13.
Creatine transporter (SLC6A8) knockout mice display an increased capacity for in vitro creatine biosynthesis in skeletal muscle
Aaron P. Russell, Lobna Ghobrial, Craig R. Wright, Séverine Lamon, Erin L. Brown, Michihiro Kon, Matthew R. Skelton, Rodney J. Snow
Front Physiol. 2014; 5: 314. Published online 2014 Aug 26. doi: 10.3389/fphys.2014.00314
PMCID:
PMC4144344
AbstractArticlePDF–632K
14.
Epigenetic Functions of Smchd1 Repress Gene Clusters on the Inactive X Chromosome and on Autosomes
Anne-Valerie Gendrel, Y. Amy Tang, Masako Suzuki, Jonathan Godwin, Tatyana B. Nesterova, John M. Greally, Edith Heard, Neil Brockdorff
Mol Cell Biol. 2013 Aug; 33(16): 3150–3165. doi: 10.1128/MCB.00145-13
PMCID:
PMC3753908
AbstractArticlePDF–3.9M
15.
A conditional knockout resource for the genome–wide study of mouse gene function
William C. Skarnes, Barry Rosen, Anthony P. West, Manousos Koutsourakis, Wendy Bushell, Vivek Iyer, Alejandro O. Mujica, Mark Thomas, Jennifer Harrow, Tony Cox, David Jackson, Jessica Severin, Patrick Biggs, Jun Fu, Michael Nefedov, Pieter J. de Jong, A. Francis Stewart, Allan Bradley
Nature. Author manuscript; available in PMC 2013 Feb 14.
Published in final edited form as: Nature. 2011 Jun 15; 474(7351): 337–342. Published online 2011 Jun 15. doi: 10.1038/nature10163
PMCID:
PMC3572410
AbstractArticlePDF–1.1M
16.
Cyclocreatine treatment improves cognition in mice with creatine transporter deficiency
Yuko Kurosawa, Ton J. DeGrauw, Diana M. Lindquist, Victor M. Blanco, Gail J. Pyne-Geithman, Takiko Daikoku, James B. Chambers, Stephen C. Benoit, Joseph F. Clark
J Clin Invest. 2012 Aug 1; 122(8): 2837–2846. Published online 2012 Jul 2. doi: 10.1172/JCI59373
PMCID:
PMC3408730
AbstractArticlePDF–631K
17.
Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium
Pascale Gaudet, Michael S. Livstone, Suzanna E. Lewis, Paul D. Thomas
Brief Bioinform. 2011 Sep; 12(5): 449–462. Published online 2011 Aug 27. doi: 10.1093/bib/bbr042
PMCID:
PMC3178059
AbstractArticlePDF–1.0M
18.
A High-Resolution Anatomical Atlas of the Transcriptome in the Mouse Embryo
Graciana Diez-Roux, Sandro Banfi, Marc Sultan, Lars Geffers, Santosh Anand, David Rozado, Alon Magen, Elena Canidio, Massimiliano Pagani, Ivana Peluso, Nathalie Lin-Marq, Muriel Koch, Marchesa Bilio, Immacolata Cantiello, Roberta Verde, Cristian De Masi, Salvatore A. Bianchi, Juliette Cicchini, Elodie Perroud, Shprese Mehmeti, Emilie Dagand, Sabine Schrinner, Asja Nürnberger, Katja Schmidt, Katja Metz, Christina Zwingmann, Norbert Brieske, Cindy Springer, Ana Martinez Hernandez, Sarah Herzog, Frauke Grabbe, Cornelia Sieverding, Barbara Fischer, Kathrin Schrader, Maren Brockmeyer, Sarah Dettmer, Christin Helbig, Violaine Alunni, Marie-Annick Battaini, Carole Mura, Charlotte N. Henrichsen, Raquel Garcia-Lopez, Diego Echevarria, Eduardo Puelles, Elena Garcia-Calero, Stefan Kruse, Markus Uhr, Christine Kauck, Guangjie Feng, Nestor Milyaev, Chuang Kee Ong, Lalit Kumar, MeiSze Lam, Colin A. Semple, Attila Gyenesei, Stefan Mundlos, Uwe Radelof, Hans Lehrach, Paolo Sarmientos, Alexandre Reymond, Duncan R. Davidson, Pascal Dollé, Stylianos E. Antonarakis, Marie-Laure Yaspo, Salvador Martinez, Richard A. Baldock, Gregor Eichele, Andrea Ballabio
PLoS Biol. 2011 Jan; 9(1): e1000582. Published online 2011 Jan 18. doi: 10.1371/journal.pbio.1000582
PMCID:
PMC3022534
AbstractArticlePDF–3.8M
19.
Creatine Transporter (CrT; Slc6a8) Knockout Mice as a Model of Human CrT Deficiency
Matthew R. Skelton, Tori L. Schaefer, Devon L. Graham, Ton J. deGrauw, Joseph F. Clark, Michael T. Williams, Charles V. Vorhees
PLoS One. 2011; 6(1): e16187. Published online 2011 Jan 13. doi: 10.1371/journal.pone.0016187
PMCID:
PMC3020968
AbstractArticlePDF–744K
20.
Regulation of the creatine transporter by AMP-activated protein kinase in kidney epithelial cells
Hui Li, Ramon F. Thali, Christy Smolak, Fan Gong, Rodrigo Alzamora, Theo Wallimann, Roland Scholz, Núria M. Pastor-Soler, Dietbert Neumann, Kenneth R. Hallows
Am J Physiol Renal Physiol. 2010 Jul; 299(1): F167–F177. Published online 2010 May 12. doi: 10.1152/ajprenal.00162.2010
PMCID:
PMC2904179
AbstractArticle

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