Results 151 to 160 of about 191,979 (223)

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

Orphanet J Rare Dis
Alessandrì MG, Bosetti C, Scaffei E, Casalini C, Balestrini S, Tramacere L, Ambrosi P, Tosetti M, Guerrini R, Battini R.   +9 more
europepmc   +1 more source

Angiotensin‐converting enzyme and exercise adaptations: Genetic variability, pharmacological modulation and future directions

The Journal of Physiology, EarlyView.
Abstract figure legend ACE I/D genotype, enzyme activity and integrated physiological adaptations. Upper panel: Conceptual framework linking the ACE I/D polymorphism (left) with circulating/tissue ACE activity (centre; violin plots based on hypothetical data for illustration) and strength/power versus endurance phenotypes (right).
Tórur Sjúrðarson, Nikolai B. Nordsborg   +1 more
wiley   +1 more source

Structural insights into the substrate uptake and inhibition of the human creatine transporter (hCRT). [PDF]

Proc Natl Acad Sci U S A
Yuan X, Yin J, Liu C, Chen X, Chen M, Wang Y, Yang Z, Wang Y, Jiang L, Zhou N, Wang X, Liu B, Ma Z, Wang K, Li H, Zhang S, Shang Y, Yang M.   +17 more
europepmc   +1 more source

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

Genes (Basel), 2021
Ghirardini E, Calugi F, Sagona G, Di Vetta F, Palma M, Battini R, Cioni G, Pizzorusso T, Baroncelli L.   +8 more
europepmc   +1 more source

Deciphering pro‐arrhythmogenic mechanisms of EPAC in human atrial cardiomyocytes

The Journal of Physiology, EarlyView.
Abstract figure legend This study aimed to investigate the effect of exchange proteins directly activated by cAMP (EPAC) on the regulation of human atrial cardiomyocyte electrophysiology and their potential involvement in the onset of atrial fibrillation (AF).
Arthur Boileve, Margaux Aize, Maximin Détrait, Laura Brard, Adrien Leboyer, Pierre‐Antoine Dupont, Alexandre Lebrun, Vladimir Saplacan, Christophe Simard, Fabien Brette, Frank Lezoualc'h, Laurent Sallé   +11 more
wiley   +1 more source

Demonstration of beat‐to‐beat, on‐demand ATP synthesis in ventricular myocytes reveals sex‐specific mitochondrial and cytosolic dynamics

The Journal of Physiology, EarlyView.
Abstract figure legend Beat‐locked mitochondrial ATP transients reveal modular, sex‐specific bioenergetic control during excitation–contraction coupling. A, each action potential activates L‐type CaV1.2 channels, producing a Ca2+ influx that triggers ryanodine receptors (RyR2) and elicits SR Ca2+ release.
Paula Rhana, Collin Matsumoto, L. Fernando Santana   +2 more
wiley   +1 more source

Establishing a core outcome set for creatine transporter deficiency and guanidinoacetate methyltransferase deficiency. [PDF]

Orphanet J Rare Dis
Nasseri Moghaddam Z, Reinhardt EK, Thurm A, Potter BK, Smith M, Graham C, Tiller BH, Baker SA, Bilder DA, Bogar R, Britz J, Cafferty R, Coller DP, DeGrauw TJ, Hall V, Lipshutz GS, Longo N, Mercimek-Andrews S, Miller JS, Pasquali M, Salomons GS, Schulze A, Wheaton CP, Williams KF, Young SP, Li J, Balog S, Selucky T, Stöckler-Ipsiroglu S, Wallis H.   +29 more
europepmc   +1 more source

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

J Inherit Metab Dis, 2022
Duran-Trio L, Fernandes-Pires G, Grosse J, Soro-Arnaiz I, Roux-Petronelli C, Binz PA, De Bock K, Cudalbu C, Sandi C, Braissant O.   +9 more
europepmc   +1 more source

Post‐exercise ketone supplementation improves endurance performance and mitochondrial adaptations during an 8‐week endurance training intervention

The Journal of Physiology, EarlyView.
Abstract figure legend Twenty‐eight trained males completed 8 weeks of supervised indoor cycling training, receiving post‐exercise and pre‐sleep ketone monoester (KE, n = 14) or isocaloric placebo (CON, n = 14). Both groups improved 30 min time‐trial performance with training, but KE achieved a 4% higher power output than CON at the end of the training
Ruben Robberechts, Youri Bekhuis, Myrthe Stalmans, Wout Lauriks, Martijn Kusters, Karim Taha, Thomas Rosseel, Guido Claessen, Chiel Poffé   +8 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