Results 91 to 100 of about 350 (155)

Dodecyl creatine ester, a promising treatment to deliver creatine to neurons, achieves pharmacology efficacy in creatine transporter deficiency

International audienceDodecyl creatine ester (DCE) is a creatine prodrug currently developed for brain diseases, including creatine transporter deficiency (CTD), an incurable rare genetic disease.
Mabondzo, Aloïse, Joudinaud, Thomas, Lhotellier, Clara, Skelton, Matthew, Guyot, Anne-Cécile, Théodoro, Frédéric, Disdier, Clémence, Bénech, Henri, Costa, Narciso, Pruvost, Alain   +9 more
core   +1 more source

Vitamin‐Responsive Disorders: From Molecular Basis to Clinical Presentation and Therapy

Journal of Inherited Metabolic Disease, Volume 49, Issue 4, July 2026.
ABSTRACT Vitamin‐dependent cofactors are essential for numerous metabolic reactions, and defects affecting their uptake, conversion, utilisation, or regeneration constitute a heterogeneous group of inherited metabolic disorders (IMDs). Although dietary vitamin intake is sufficient to sustain coenzyme synthesis in healthy individuals, it is insufficient
Cécile Acquaviva, Yann Nadjar, Manuel Schiff, Christine Vianey‐Saban, Alain Fouilhoux, Jean‐François Benoist   +5 more
wiley   +1 more source

Creatine metabolism: detection of creatine and guanidinoacetate in saliva of healthy subjects. [PDF]

, 2016
Creatine (Cr) plays an important role in storage and transmission of phosphate-bound energy. Cerebral creatine deficiency syndromes comprise three inherited defects in Cr biosynthesis and transport.
Dodelson de Kremer, R., Bezard, M., Brunotto, M., Martínez, L.D.   +3 more
core  

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   +1 more source

Ischemia–Reperfusion Injury: Molecular Mechanisms and Therapeutic Interventions

MedComm, Volume 7, Issue 7, July 2026.
Multiorgan ischemia–reperfusion injury begins with ischemia‐induced ATP depletion and ionic imbalance, followed by reperfusion‐triggered mitochondrial ROS/RNS bursts, regulated cell death, and DAMP release. Sterile inflammation converges on endothelial–immune–coagulation crosstalk, where NETs drive immunothrombosis, no‐reflow, and remote organ injury ...
Peng An, Yi An, Mengwei Chen, Longlong Wu, Rong Wang   +4 more
wiley   +1 more source

From extracellular entry to intracellular release: A water‐assisted transport cycle for creatine in SLC6A8

Protein Science, Volume 35, Issue 7, July 2026.
Abstract The creatine transporter (CRT/SLC6A8) plays a key role in cellular energy homeostasis, yet the molecular mechanism underlying creatine transport remains poorly understood. Here, we reconstruct the complete transport cycle of human CRT using a hybrid simulation strategy that combines constant‐force steered molecular dynamics (cf‐sMD) with ...
Pitambar Poudel, Shailesh Kumar Panday, Emil Alexov   +2 more
wiley   +1 more source

Creatine synthesis and exchanges between brain cells: What can be learned from human creatine deficiencies and various experimental models?

, 2016
While it has long been thought that most of cerebral creatine is of peripheral origin, the last 20 years has provided evidence that the creatine synthetic pathway (AGAT and GAMT enzymes) is expressed in the brain together with the creatine transporter ...
Hanna-El-Daher, L., Braissant, O.
core   +1 more source

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

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   +1 more source

Cytosolic Phosphoenoylpyruvate Carboxykinase Deficiency: Clinical, Biochemical, and Genetic Features of Five Non‐Finnish Patients

American Journal of Medical Genetics Part A, Volume 200, Issue 6, Page 1192-1203, June 2026.
ABSTRACT Cytosolic phosphoenoylpyruvate carboxykinase (PEPCK‐C) is an essential, rate‐limiting enzyme in the gluconeogenesis pathway. PEPCK‐C deficiency presents with hypoglycaemia, hyperlactataemia and hepatopathy, and was first reported in association with bi‐allelic PCK1 variants in 2014.
Isaac Bernhardt, Polona Le Quesne Stabej, Claire Hart, Mark De Hora, Sarah Hulley, Mark Anderson, Harry G. Leitch, Hugh Lemonde, Bryony Ryder, James Davison   +9 more
wiley   +1 more source

Establishing a core outcome set for creatine transporter deficiency and guanidinoacetate methyltransferase deficiency

Orphanet Journal of Rare Diseases
Background Creatine transporter (CTD) and guanidinoacetate methyltransferase (GAMT) deficiencies are rare inborn errors of creatine metabolism, resulting in cerebral creatine deficiency.
Zahra Nasseri Moghaddam, Emily K. Reinhardt, Audrey Thurm, Beth K. Potter, Maureen Smith, Celeste Graham, Beth H. Tiller, Steven A. Baker, Deborah A. Bilder, Regina Bogar, Jacobus Britz, Rachel Cafferty, Daniel P. Coller, Ton J. DeGrauw, Vicky Hall, Gerald S. Lipshutz, Nicola Longo, Saadet Mercimek-Andrews, Judith S. Miller, Marzia Pasquali, Gajja S. Salomons, Andreas Schulze, Celine P. Wheaton, Kayla F. Williams, Sarah P. Young, Jasmine Li, Sofia Balog, Theresa Selucky, Sylvia Stöckler-Ipsiroglu, Heidi Wallis   +29 more
doaj   +1 more source