# Glossary
# References
Reference to the bibliography
The bibliography does not follow any scientific notation. Click on the links to see the full citation of the original article.
| Source | Title |
|---|---|
| Béard & Braissant 2010 (opens new window) | Synthesis and transport of creatine in the CNS: importance for cerebral functions |
| Bizzi et al 2002 (opens new window) | X-linked creatine deficiency syndrome: A novel mutation in creatine transporter gene SLC6A8 |
| Cheillan et al 2005 (opens new window) | Les syndromes de déficit en créatine (Creatine deficiency syndromes) |
| Curt et al 2015 (opens new window) | Creatine biosynthesis and transport in health and disease |
| Dunbar et al 2014 (opens new window) | Treatment of X-linked creatine transporter (SLC6A8) deficiency: systematic review of the literature and three new cases |
| El-Kasaby et al 2019 (opens new window) | Rescue by 4-phenylbutyrate of several misfolded creatine transporter-1 variants linked to the creatine transporter deficiency syndrome |
| Farr et al 2020 (opens new window) | The Creatine Transporter Unfolded: A Knotty Premise in the Cerebral Creatine Deficiency Syndrome |
| Fernandes-Pires & Braissant 2022 (opens new window) | Current and potential new treatment strategies for creatine deficiency syndromes |
| Fons et al 2008 (opens new window) | Arginine supplementation in four patients with X-linked creatine transporter defect |
| Hanna-El-Daher & Braissant 2016 (opens new window) | Creatine synthesis and exchanges between brain cells: What can be learned from human creatine deficiencies and various experimental models? |
| Jaggumantri et al 2015 (opens new window) | Treatment of Creatine Transporter (SLC6A8) Deficiency With Oral S-Adenosyl Methionine as Adjunct to L-arginine, Glycine, and Creatine Supplements |
| Mercimek-Mahmutoglu et al 2010 (opens new window) | Treatment of intractable epilepsy in a female with SLC6A8 deficiency |
| Thompson et al 2009 (opens new window) | The role of the cerebellum in classical conditioning of discrete behavioral responses |
| Trotier-Faurion et al 2013 (opens new window) | Synthesis and Biological Evaluation of New Creatine Fatty Esters Revealed Dodecyl Creatine Ester as a Promising Drug Candidate for the Treatment of the Creatine Transporter Deficiency |
| Ulloa-Aguirre & Tao 2018 (opens new window) | Targeting Trafficking in Drug Development |
| Valayannopoulos et al 2012 (opens new window) | Treatment by oral creatine, L-arginine and L-glycine in six severely affected patients with creatine transporter defect |
| van de Kamp et al 2011 (opens new window) | Long-term follow-up and treatment in nine boys with X-linked creatine transporter defect |
| van de Kamp et al 2014 (opens new window) | X-linked creatine transporter deficiency: clinical aspects and pathophysiology |
| Villar et al 2011 (opens new window) | Glycine and l-Arginine Treatment Causes Hyperhomocysteinemia in Cerebral Creatine Transporter Deficiency Patients |
| Wallimann et al 2011 (opens new window) | The creatine kinase system and pleiotropic effects of creatine |
| Wyss & Kaddurah-Daouk 2000 (opens new window) | Creatine and Creatinine Metabolism |
# Tools Used
Thank you!
A heartfelt thank you to the publishers, authors, and institutions of open knowledge, data, and image sources for non-commercial purposes!
# AlphaFold Database
AlphaFold is an AI system developed by Google DeepMind that predicts the 3D structure of a protein based on its amino acid sequence. It consistently achieves accuracy comparable to experimental results.
Google DeepMind and the European Bioinformatics Institute (EMBL-EBI) have collaborated to create AlphaFold DB and make these predictions freely accessible to the scientific community. The latest version of the database contains over 200 million entries and largely covers UniProt (the standard repository for protein sequences and annotations). We provide individual downloads for the human proteome and the proteomes of 47 other key organisms important for research and global health. AlphaFold DB (opens new window); Structure viewer for SLC6A8 (opens new window).
# Code management: GitHub
The code is managed via Git-Hub. Click here for the website code: website_kreatin_infoV2 (opens new window)
# ezgif.com
Ezgif.com is a simple, free online GIF maker and a toolset for basic animated image editing. Create, edit, and convert GIF, APNG, WebP, and MNG files. ezgif.com (opens new window);
# GeneCards: The Human Gene Database
GeneCards is a searchable, integrative database providing comprehensive, user-friendly information on all annotated and predicted human genes. The knowledge base automatically integrates gene-related data from approximately 200 web sources, including genomic, transcriptomic, proteomic, genetic, clinical, and functional information. GeneCards (opens new window); Database entry for SLC6A8 (opens new window).
# MolView
MolView is a web-based, intuitive data visualization platform available for free use. With MolView, various scientific databases can be searched, including compound, protein, and spectral databases, and datasets from these databases can be displayed as interactive visualizations using WebGL and HTML5 technologies. Many thanks to Herman Bergwerf for his dedication to maintaining the platform molview.org.
# NIH Genotype-Tissue Expression (GTEx)
The NIH Genotype-Tissue Expression project was established to create a sample and data resource for studying the relationship between genetic variation and gene expression across multiple human tissues. This track displays the average gene expression levels in 52 tissues and 2 cell lines based on RNA-seq data from the GTEx final data release. This release is based on data from 17,382 tissue samples collected from 948 adult postmortem donors. GTEx Analysis Release V10 for SLC6A8 (opens new window)
# Websitetech: VuePress | Vue.js | Markdown | Node.js | CSS | HTML
This site was created with VuePress v1, a static website framework based on Vue.js, which allows a very wide range of design and functionality thanks to the Vue components and CSS. VuePress (opens new window)