Impaired brain glucose metabolism as a biomarker for evaluation of dodecyl creatine ester in creatine transporter deficiency: Insights from patient brain-derived organoids and in vivo [18F]FDG PET imaging in a mouse model-Reference-Cited by-同舟云学术

Impaired brain glucose metabolism as a biomarker for evaluation of dodecyl creatine ester in creatine transporter deficiency: Insights from patient brain-derived organoids and in vivo [18F]FDG PET imaging in a mouse model

Published:2024-11 Issue: Volume:202 Page:106720
ISSN:0969-9961
Container-title:Neurobiology of Disease
language:en
Short-container-title:Neurobiology of Disease

Author:

Disdier Clémence,Soyer Amélie,Broca-Brisson Léa,Goutal Sébastien,Guyot Anne-Cécile,Ziani Nora,Breuil Louise,Winkeler Alexandra,Hugon Gaëlle,Joudinaud Thomas,Bénech Henri,Armengaud Jean,Skelton Matthew R.,Harati Rania,Hamoudi Rifat A.,Tournier Nicolas,Mabondzo Aloïse

Funder

ASPIRE

Commissariat à l'Énergie Atomique et aux Énergies Alternatives

Publisher

Elsevier BV

Reference53 articles.

1. Creatine deficiency syndromes and the importance of creatine synthesis in the brain;Braissant;Amino Acids,2011

2. Deciphering Neuronal Deficit and Protein Profile Changes in Human Brain Organoids from Patients with Creatine Transporter Deficiency;Broca-Brisson,2023

3. Treatment outcome of creatine transporter deficiency: international retrospective cohort study;Bruun;Metab. Brain Dis.,2018

4. Recent advances in understanding the cellular roles of GSK-3;Cormier;F1000Res,2017

5. Estimated carrier frequency of creatine transporter deficiency in females in the general population using functional characterization of novel missense variants in the SLC6A8 gene;DesRoches;Gene,2015

Cited by 2 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Heterozygous females from a rat model for creatine transporter deficiency reveal altered behavioral response to stressors, normal body weight and slight metabolic changes;Frontiers in Neuroscience;2025-04-29

2. [18F]FDG-PET and [18F]MPPF-PET are brain biomarkers for the creatine transporter Slc6a8 loss of function mutation;Scientific Reports;2025-03-01