Results 21 to 30 of about 612,233 (251)

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   +3 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.
Whitney Guthrie, Forbes D Porter, Audrey Thurm   +2 more
exaly   +5 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   +3 more sources

A Mouse Model of Creatine Transporter Deficiency Reveals Impaired Motor Function and Muscle Energy Metabolism [PDF]

Frontiers in Physiology, 2018
Creatine serves as fast energy buffer in organs of high-energy demand such as brain and skeletal muscle. L-Arginine:glycine amidinotransferase (AGAT) and guanidinoacetate N-methyltransferase are responsible for endogenous creatine synthesis.
Malte Stockebrand, Malte Stockebrand, Ali Sasani, Ali Sasani, Devashish Das, Sönke Hornig, Irm Hermans-Borgmeyer, Hannah A. Lake, Hannah A. Lake, Dirk Isbrandt, Craig A. Lygate, Craig A. Lygate, Arend Heerschap, Axel Neu, Chi-Un Choe   +14 more
doaj   +5 more sources

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

Molecular Genetics and Metabolism Reports, 2023
[This corrects the article DOI: 10.1016/j.ymgmr.2023.101001.].
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   +3 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   +3 more sources

Advancing clinical insight into creatine transporter deficiency: long term outcome and new observations from the Italian cohort [PDF]

Orphanet Journal of Rare Diseases
Background Creatine Transporter Deficiency (CTD) is a rare X-linked disorder caused by pathogenic or likely pathogenic variants in the SLC6A8 gene, leading to a deficiency of cerebral Creatine.
Maria Grazia Alessandrì, Chiara Bosetti, Elena Scaffei, Claudia Casalini, Simona Balestrini, Luciana Tramacere, Pierfrancesco Ambrosi, Michela Tosetti, Renzo Guerrini, Roberta Battini   +9 more
doaj   +3 more sources

A novel mouse model of creatine transporter deficiency [v1; ref status: indexed, http://f1000r.es/4f8] [PDF]

F1000Research, 2014
Mutations in the creatine (Cr) transporter (CrT) gene lead to cerebral creatine deficiency syndrome-1 (CCDS1), an X-linked metabolic disorder characterized by cerebral Cr deficiency causing intellectual disability, seizures, movement  and behavioral ...
Laura Baroncelli, Maria Grazia Alessandrì, Jonida Tola, Elena Putignano, Martina Migliore, Elena Amendola, Cornelius Gross, Vincenzo Leuzzi, Giovanni Cioni, Tommaso Pizzorusso   +9 more
doaj   +10 more sources

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

Genes, 2021
Creatine (Cr) Transporter Deficiency (CTD) is an X-linked metabolic disorder, mostly caused by missense mutations in the SLC6A8 gene and presenting with intellectual disability, autistic behavior, and epilepsy. There is no effective treatment for CTD and
Elsa Ghirardini, Tommaso Pizzorusso, Laura Baroncelli   +2 more
exaly   +3 more sources

A novel SLC6A8 mutation associated with intellectual disabilities in a Chinese family exhibiting creatine transporter deficiency: case report [PDF]

BMC Medical Genetics, 2018
Background X-linked creatine transporter deficiency (OMIM#300036,CRTR-D) is characterized by cerebral creatine deficiency, intellectual disabilities, severe speech impairment, seizures and behavioral problems.
Qin Wang, Jingxin Yang, Yang Liu, Xingping Li, Fuwei Luo, Jiansheng Xie   +5 more
doaj   +3 more sources