Results 151 to 160 of about 6,531 (222)

Connectomic and behavioural alterations in creatine transporter deficiency are partially normalized by gene therapy. [PDF]

Brain
Montani C, Iovino L, Di Vetta F, Pasquin Mariani JR, De Guzman AE, Gini S, Galbusera A, D'Epifanio B, Ghirardini E, Cornuti S, Dadà L, Putignano E, Alessandrì MG, Vasirani G, Bertozzi SM, Armirotti A, Baroncelli L, Gozzi A.   +17 more
europepmc   +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 transporter deficiency, an underdiagnosed cause of male intellectual disability. [PDF]

BMJ Case Rep, 2020
Jangid N, Surana P, Salmonos G, Jain V.
europepmc   +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

Longitudinal Characterization of Males With X-Linked Creatine Transporter Deficiency: Final Results of a Multiyear Observational Study. [PDF]

Pediatr Neurol
Miller JS, Farmer C, Blair S, Bianconi S, Akshoomoff N, Anselm I, Barshop BA, Becker L, Bennett AE, Berry LN, Berry-Kravis EM, Bruchey A, Byars AW, Cimms T, Cecil KM, Covello M, Cubit LS, Das T, Davis RJ, Drye M, Ficicioglu C, Fulton JB, Goin-Kochel RP, Guthrie W, Hallinan BE, Hannah-Shmouni F, Gustafson KE, Koeberl DD, Longo N, Mamak E, Mercimek-Andrews S, Michalak C, Porter FD, Rahhal S, Rees L, Spiridigliozzi GA, Stone C, Sullivan NR, Sutton VR, Thomas RP, Udhnani M, Waisbren S, Xu M, Zhang L, Brandabur M, Thurm A.   +45 more
europepmc   +1 more source

A Multispecies Systematic and Critical Review of Intranasal Administration in Veterinary Anaesthesia and Emergency Care: Promising Evidence and Overlooked Challenges

Veterinary Medicine and Science, Volume 12, Issue 4, July 2026.
This review evaluates the clinical potential and limitations of intranasal (IN) drug administration in veterinary anaesthesia and emergency care. IN delivery can provide clinically relevant sedation, analgesia and drug reversal, but its success is not universally reliable and is strongly influenced by species‐specific anatomy, formulation ...
Majid Jafarbeglou
wiley   +1 more source

Diaphragm‐specific effects of L‐citrulline in mdx mice highlight its potential as adjuvant of standard therapy in Duchenne muscular dystrophy

British Journal of Pharmacology, Volume 183, Issue 13, Page 3866-3884, July 2026.
Abstract Background and Purpose The absence of the protein dystrophin in Duchenne muscular dystrophy (DMD) leads to progressive muscle weakness, failing regeneration and deregulation of nitric oxide (NO) signalling. We focused on L‐citrulline, a precursor of L‐arginine, required for NO production in muscle, which is reduced in dystrophic mdx muscle ...
Lisamaura Tulimiero, Brigida Boccanegra, Paola Mantuano, Antonietta Mele, Michela De Bellis, Roberta Lenti, Francesca Sanarica, Santa Cirmi, Elena Conte, Ornella Cappellari, Amber E. Sherrard, Ardawna Green, Mira Srinivasa, Marta L. Fiorotto, Annamaria De Luca   +14 more
wiley   +1 more source

Gene delivery of AGAT and GAMT boosts creatine levels in creatine transporter deficiency patient fibroblasts. [PDF]

PLoS One
Wells C, Sorgenfrei J, Johnson SL, Albertson D, Rutter J, Baker SA.   +5 more
europepmc   +1 more source

Cyclocreatine treatment ameliorates the cognitive, autistic and epileptic phenotype in a mouse model of Creatine Transporter Deficiency. [PDF]

Sci Rep, 2020
Cacciante F, Gennaro M, Sagona G, Mazziotti R, Lupori L, Cerri E, Putignano E, Butt M, Do MT, McKew JC, Alessandrì MG, Battini R, Cioni G, Pizzorusso T, Baroncelli L.   +14 more
europepmc   +1 more source