Results 21 to 30 of about 6,531 (222)

Oxidative phosphorylation in creatine transporter deficiency [PDF]

NMR in Biomedicine, 2021
X‐linked creatine transporter deficiency (CTD) is one of the three types of cerebral creatine deficiency disorders. CTD arises from pathogenic variants in the X‐linked gene SLC6A8. We report the first phosphorus (31P) MRS study of patients with CTD, where both phosphocreatine and total creatine concentrations were found to be markedly reduced.
Shizhe Li, Simona Bianconi, Kim M Cecil   +2 more
exaly   +5 more sources

Early Indicators of Creatine Transporter Deficiency [PDF]

Journal of Pediatrics, 2019
Early identification is a goal for creatine transporter deficiency and will be critical for future treatment. Before their first birthday, one-half of this sample showed both a significant feeding/weight gain issue and delayed sitting or crawling. Combined, these early indicators could have alerted providers to conduct a urine screen.
Judith S Miller, Rebecca P Thomas, Amanda Bennett   +2 more
exaly   +5 more sources

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

eLife, 2023
Creatine transporter deficiency (CTD) is an X-linked disease caused by mutations in the SLC6A8 gene. The impaired creatine uptake in the brain results in intellectual disability, behavioral disorders, language delay, and seizures.
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   +15 more
doaj   +2 more sources

Creatine Transporter Deficiency Presenting as Autism Spectrum Disorder [PDF]

Pediatrics, 2020
Autism spectrum disorder (ASD) is the most common disability-causing neurodevelopmental disorder in childhood. Although inborn errors of metabolism (IEM) are rare causes of ASD, they are significant for several reasons, including implications in genetic counseling and determination of prognosis.
Yılmaz, Yıldız, Rahşan, Göçmen, Ahmet, Yaramış, Turgay, Coşkun, Göknur, Haliloğlu   +4 more
openaire   +3 more sources

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

Molecular Genetics and Metabolism Reports, 2023
Background: Creatine transporter deficiency (CTD) is a rare X-linked disorder of creatine transport caused by pathogenic variants in SLC6A8 (Xq28). The disorder is marked by developmental delay, especially speech delay.
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   +14 more
doaj   +2 more sources

Creatine transporter deficiency impairs stress adaptation and brain energetics homeostasis [PDF]

JCI Insight, 2021
The creatine transporter (CrT) maintains brain creatine (Cr) levels, but the effects of its deficiency on energetics adaptation under stress remain unclear.
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   +13 more
doaj   +2 more sources

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

Molecular Genetics & Genomic Medicine, 2021
Background Creatine transporter deficiency is an inborn error of metabolism caused by a deficiency in the creatine transporter protein encoded by the SLC6A8 gene.
Kaili Shi, Huimin Zhao, Shuming Xu, Hong Han, Wenjuan Li   +4 more
doaj   +3 more sources

Screening for creatine transporter deficiency in autism spectrum disorder: a pilot study

Türk Biyokimya Dergisi
Investigation of inherited metabolic disorders in autism spectrum disorder (ASD) is a matter of debate. X-linked creatine transporter deficiency is among the metabolic disorders which may present predominantly with features of ASD and intellectual ...
Arslan Mutluay, Yildiz Yılmaz, Olgaç Asburçe, Hekim Özlem, Yücel Çiğdem, Sertoğlu Erdim   +5 more
doaj   +2 more sources

Heterozygous females from a rat model for creatine transporter deficiency reveal altered behavioral response to stressors, normal body weight and slight metabolic changes [PDF]

Frontiers in Neuroscience
Creatine (Cr) is an organic acid essential for recycling ATP, important in tissues with high energy demand such as muscle or brain. Cr is synthesized in a 2-step pathway by the enzymes AGAT and GAMT, and transported by SLC6A8 (also called CrT).
Lara Duran-Trio, Marc Lanzillo, Dunja Simicic, Clothilde Roux-Petronelli, Stephen J. Bruce, Carmen Sandi, Cristina Cudalbu, Cristina Cudalbu, Olivier Braissant   +8 more
doaj   +2 more sources

How a patient-led advocacy organization supports the road to diagnosis and treatment of creatine transporter deficiency [PDF]

Frontiers in Neuroscience
The current era of drug development has evolved significantly. Patient advocacy organizations are moving beyond simply supporting community members and are taking the reins to improve the speed of diagnoses, initiate therapeutic discoveries, and lay the ...
Heidi Wallis, Sangeetha Iyer, Emily K. Reinhardt   +2 more
doaj   +2 more sources