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Select item 105756311.

Deciphering neuronal deficit and protein profile changes in human brain organoids from patients with creatine transporter deficiency

Léa Broca-Brisson, Rania Harati, Clémence Disdier, Orsolya Mozner, Romane Gaston-Breton, Auriane Maïza, Narciso Costa, Anne-Cécile Guyot, Balazs Sarkadi, Agota Apati, Matthew R Skelton, Lucie Madrange, Frank Yates, Jean Armengaud, Rifat Hamoudi, Aloïse Mabondzo

eLife. 2023; 12: RP88459. Published online 2023 Oct 13. doi: 10.7554/eLife.88459

PMCID:: PMC10575631

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Select item 104703142.

Elevated amyloid beta peptides and total tau in cerebrospinal fluid in individuals with Creatine transporter deficiency

Samar Rahhal, Cristan Farmer, Audrey Thurm, Christopher A. Wassif, Niamh X. Cawley, John Perreault, An Dang Do, Simona Bianconi, Fady Hannah-Shmouni, Whitney Guthrie, Laura S. Cubit, Judith S. Miller, V. Reid Sutton, Dwight Koeberl, Forbes D. Porter

Mol Genet Metab Rep. 2023 Dec; 37: 101001. Published online 2023 Aug 21. doi: 10.1016/j.ymgmr.2023.101001

Correction in:: Mol Genet Metab Rep. 2023 Dec; 37: 101013.

PMCID:: PMC10470314

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Select item 101036303.

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

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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

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Select item 99090535.

Creatine Transporter Deficiency Presenting as Failure to Thrive: A Case Report of a Novel SLC6A8 Variant Causing a Treatable but Likely Underdiagnosed Genetic Disorder

Christina G. Tise, Melinda J. Palma, Kristina P. Cusmano-Ozog, Dena R. Matalon

J Investig Med High Impact Case Rep. 2023 Jan-Dec; 11: 23247096231154438. Published online 2023 Feb 8. doi: 10.1177/23247096231154438

PMCID:: PMC9909053

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Select item 88295196.

Case report: Clinical and magnetic resonance spectroscopy presentation of a female severely affected with X-linked creatine transporter deficiency

Katherine Morey, Barbara Hallinan, Kim M. Cecil

Radiol Case Rep. 2022 Apr; 17(4): 1115–1119. Published online 2022 Feb 3. doi: 10.1016/j.radcr.2022.01.053

PMCID:: PMC8829519

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Select item 87736587.

Effects of Delivering Guanidinoacetic Acid or Its Prodrug to the Neural Tissue: Possible Relevance for Creatine Transporter Deficiency

Enrico Adriano, Annalisa Salis, Gianluca Damonte, Enrico Millo, Maurizio Balestrino

Brain Sci. 2022 Jan; 12(1): 85. Published online 2022 Jan 7. doi: 10.3390/brainsci12010085

PMCID:: PMC8773658

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Select item 84879198.

X-linked Creatine transporter deficiency results in prolonged QTc and increased sudden death risk in humans and disease model

Mark D. Levin, Simona Bianconi, Andrew Smith, Niamh X. Cawley, An Dang Do, Dylan Hammond, Julia F. Grafstein, Audrey Thurm, Judith Miller, John Perreault, Audrey Noguchi, Danielle Springer, Beth A. Kozel, Christopher F. Spurney, Christopher A. Wassif, Zu-Xi Yu, Andreas Schulze, Forbes D. Porter, Fady Hannah-Shmouni

Genet Med. Author manuscript; available in PMC 2021 Nov 28.

Published in final edited form as: Genet Med. 2021 Oct; 23(10): 1864–1872. Published online 2021 May 28. doi: 10.1038/s41436-021-01224-8

PMCID:: PMC8487919

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Select item 83924809.

The Role of Preclinical Models in Creatine Transporter Deficiency: Neurobiological Mechanisms, Biomarkers and Therapeutic Development

Elsa Ghirardini, Francesco Calugi, Giulia Sagona, Federica Di Vetta, Martina Palma, Roberta Battini, Giovanni Cioni, Tommaso Pizzorusso, Laura Baroncelli

Genes (Basel) 2021 Aug; 12(8): 1123. Published online 2021 Jul 24. doi: 10.3390/genes12081123

PMCID:: PMC8392480

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Select item 812374910.

Treatment efficacy of high‐dose creatine supplementation in a child with creatine transporter (SLC6A8) deficiency

Kaili Shi, Huimin Zhao, Shuming Xu, Hong Han, Wenjuan Li

Mol Genet Genomic Med. 2021 Apr; 9(4): e1640. Published online 2021 Mar 3. doi: 10.1002/mgg3.1640

PMCID:: PMC8123749

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Select item 774753411.

Creatine transporter deficiency, an underdiagnosed cause of male intellectual disability

Neha Jangid, Priyanka Surana, Gajja Salmonos, Vivek Jain

BMJ Case Rep. 2020; 13(12): e237542. Published online 2020 Dec 17. doi: 10.1136/bcr-2020-237542

PMCID:: PMC7747534

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Select item 772218512.

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

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Select item 747290713.

Novel translational phenotypes and biomarkers for creatine transporter deficiency

Raffaele Mazziotti, Francesco Cacciante, Giulia Sagona, Leonardo Lupori, Mariangela Gennaro, Elena Putignano, Maria Grazia Alessandrì, Annarita Ferrari, Roberta Battini, Giovanni Cioni, Tommaso Pizzorusso, Laura Baroncelli

Brain Commun. 2020; 2(2): fcaa089. Published online 2020 Jul 3. doi: 10.1093/braincomms/fcaa089

PMCID:: PMC7472907

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Select item 692409914.

Phosphocyclocreatine is the dominant form of cyclocreatine in control and creatine transporter deficiency patient fibroblasts

Kirill Gorshkov, Amy Q. Wang, Wei Sun, Ethan Fisher, Marta Frigeni, Marc Singleton, Natasha Thorne, Bradley Class, Wenwei Huang, Nicola Longo, Minh‐Ha T. Do, Elizabeth A. Ottinger, Xin Xu, Wei Zheng

Pharmacol Res Perspect. 2019 Dec; 7(6): e00525. Published online 2019 Dec 20. doi: 10.1002/prp2.525

PMCID:: PMC6924099

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Select item 669367115.

Early Signs of Creatine Transporter Deficiency

Judith S. Miller, Rebecca P. Thomas, Amanda Bennett, Simona Bianconi, Aleksandra Bruchey, Robert J. Davis, Can Ficicioglu, Whitney Guthrie, Forbes D. Porter, Audrey Thurm

J Pediatr. Author manuscript; available in PMC 2019 Aug 14.

Published in final edited form as: J Pediatr. 2019 Mar; 206: 283–285. Published online 2018 Dec 20. doi: 10.1016/j.jpeds.2018.11.008

PMCID:: PMC6693671

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Select item 661304416.

Dodecyl creatine ester-loaded nanoemulsion as a promising therapy for creatine transporter deficiency

Gabriela Ullio-Gamboa, Kenea C Udobi, Sophie Dezard, Marla K Perna, Keila N Miles, Narciso Costa, Frédéric Taran, Alain Pruvost, Jean-Pierre Benoit, Matthew R Skelton, Pascale de Lonlay, Aloïse Mabondzo

Nanomedicine (Lond) 2019 Jun; 14(12): 1579–1593. Published online 2019 Apr 30. doi: 10.2217/nnm-2019-0059

PMCID:: PMC6613044

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Select item 621925517.

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

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Select item 603625918.

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

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Select item 497563319.

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

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Select item 493260920.

Creatine transporter deficiency: Novel mutations and functional studies

O. Ardon, M. Procter, R. Mao, N. Longo, Y.E. Landau, A. Shilon-Hadass, L.V. Gabis, C. Hoffmann, M. Tzadok, G. Heimer, S. Sada, B. Ben-Zeev, Y. Anikster

Mol Genet Metab Rep. 2016 Sep; 8: 20–23. Published online 2016 Jun 30. doi: 10.1016/j.ymgmr.2016.06.005

PMCID:: PMC4932609

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