Results 31 to 40 of about 13,220 (172)

New Insights into Drug Development via the Nose-to-Brain Pathway: Exemplification Through Dodecyl Creatine Ester for Neuronal Disorders [PDF]

Pharmaceutics
Brain disorders remain a major global health challenge, highlighting the urgent need for innovative therapeutic strategies and efficient drug-delivery approaches.
Henri Benech, Victoria Flament, Clara Lhotellier, Camille Roucairol, Thomas Joudinaud   +4 more
doaj   +2 more sources

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

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   +1 more source

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   +2 more sources

Creatine transporter deficient rat model show motor dysfunction, cerebellar alterations and muscle creatine deficiency without muscle atrophy [PDF]

Journal of Inherited Metabolic Disease, 2021
ABSTRACTCreatine (Cr) is a nitrogenous organic acid and plays roles as fast phosphate energy buffer to replenish ATP, osmolyte, antioxidant, neuromodulator, and as a compound with anabolic and ergogenic properties in muscle. Cr is taken from the diet or endogenously synthetized by the enzymes AGAT and GAMT, and specifically taken up by the transporter ...
Lara Duran-Trio, Gabriella Fernandes-Pires, Jocelyn Grosse, Ines Soro-Arnaiz, Clothilde Roux-Petronelli, Pierre-Alain Binz, Katrien De Bock, Cristina Cudalbu, Carmen Sandi, Olivier Braissant   +9 more
openaire   +4 more sources

Urine creatine metabolite panel as a screening test in neurodevelopmental disorders

Orphanet Journal of Rare Diseases, 2020
Background Cerebral creatine deficiency disorders (CCDD) are inherited metabolic disorders of creatine synthesis and transport. Urine creatine metabolite panel is helpful to identify these disorders.
Shalini Bahl, Dawn Cordeiro, Lauren MacNeil, Andreas Schulze, Saadet Mercimek-Andrews   +4 more
doaj   +1 more source

Reduction in cardiolipin reduces expression of creatine transporter-1 and creatine transport in growing hCMEC/D3 human brain microvessel endothelial cells

Frontiers in Drug Delivery, 2023
The phospholipid cardiolipin (CL) regulates mitochondrial energy production. Endothelial cells of the blood-brain barrier (BBB) play a vital role in uptake of metabolites into the brain and are enriched in mitochondria.
Donald W. Miller, Grant M. Hatch, Grant M. Hatch   +2 more
doaj   +1 more source

CARD9 deficiency promotes pancreatic cancer growth by blocking dendritic cell maturation via SLC6A8-mediated creatine transport

OncoImmunology, 2023
Pancreatic cancer (PC) is featured with low survival rate and poor outcomes. Herein, we found that the expression of caspase-recruitment domain-containing protein 9 (CARD9), predominantly expressed in innate immune cells, was positively related to the ...
Cheng Tian, Huimin Yuan, Yi Lu, Henghui He, Qing Li, Senlin Li, Jian Yang, Mengheng Wang, Ruochen Xu, Qian Liu, Ming Xiang   +10 more
doaj   +1 more source

Potential therapeutic use of the ketogenic diet in autism spectrum disorders. [PDF]

, 2014
The ketogenic diet (KGD) has been recognized as an effective treatment for individuals with glucose transporter 1 (GLUT1) and pyruvate dehydrogenase (PDH) deficiencies as well as with epilepsy.
Dueñas, Nadia, Giulivi, Cecilia, Napoli, Eleonora   +2 more
core   +1 more source

X-Linked Creatine-Transporter Gene (SLC6A8) Defect: A New Creatine-Deficiency Syndrome [PDF]

The American Journal of Human Genetics, 2001
We report the first X-linked creatine-deficiency syndrome caused by a defective creatine transporter. The male index patient presented with developmental delay and hypotonia. Proton magnetic-resonance spectroscopy of his brain revealed absence of the creatine signal.
Salomons, Gajja S., van Dooren, Silvy J.M., Verhoeven, Nanda M., Cecil, Kim M., Ball, William S., Degrauw, Ton J., Jakobs, Cornelis   +6 more
openaire   +2 more sources

Ammonia toxicity to the brain and creatine. [PDF]

, 2004
Symptoms of hyperammonemia are age-dependent and some are reversible. Multiple mechanisms are involved. Hyperammonemia increases the uptake of tryptophan into the brain by activation of the L-system carrier while brain glutamine plays a still undefined ...
Bachmann, C., Boulat, O., Braissant, O., Henry, H., Villard, A.M.   +4 more
core   +1 more source