PMC Links for GEO Profiles (Select 129111015) - PMC

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

Abstract Article PDF–4.1M

Select item 99902244.

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

Abstract Article PDF–6.1M

Select item 84923315.

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

Abstract Article PDF–3.8M

Select item 78918466.

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 75915307.

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

Abstract Article PDF–2.4M

Select item 70017668.

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

Abstract Article PDF–1.0M

Select item 67391359.

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

Abstract Article PDF–920K

Select item 669691510.

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

Abstract Article PDF–1.0M

Select item 632980511.

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

Abstract Article PDF–1.4M

Select item 603625912.

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

Abstract Article PDF–3.7M

Select item 497563313.

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

Abstract Article PDF–2.2M

Select item 424376114.

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

Abstract Article PDF–888K

Select item 414434415.

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

Abstract Article PDF–632K

Select item 375390816.

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

Abstract Article PDF–3.9M

Select item 357241017.

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

Abstract Article PDF–1.1M

Select item 340873018.

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

Abstract Article PDF–631K

Select item 317805919.

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

Abstract Article PDF–1.0M

Select item 302253420.

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

Abstract Article PDF–3.8M

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