Results 151 to 160 of about 15,296 (267)

Delineation of Facial Dysmorphology in Males With Creatine Transporter Defect. [PDF]

Am J Med Genet A
Perreault J, Porter FD, Nowaczyk MJM.
europepmc   +1 more source

Mitochondrial peptide MOTS‐c suppresses systemic and cardiac inflammasome activation in a diabetic rat model

Experimental Physiology, EarlyView.
Abstract Type 2 diabetes mellitus (T2DM) is associated with chronic systemic and cardiac inflammation, contributing to the development of diabetic cardiomyopathy. The mitochondrial‐derived peptide mitochondrial open reading frame of the 12S rRNA type‐C (MOTS‐c) has emerged as a promising regulator of metabolic and inflammatory pathways.
Aimee R. Mills, Antonio de Souza, Toan Pham, Odunayo O. Mugisho   +3 more
wiley   +1 more source

Optimizing Gene Therapies for Creatine Transporter Deficiency: Correcting by Connecting. [PDF]

Epilepsy Curr
Lillis KP.
europepmc   +1 more source

Skeletal muscle‐specific myostatin overexpression promotes muscle oxidative capacity and fatigue resistance in transgenic mice

Experimental Physiology, EarlyView.
Abstract In addition to controlling muscle mass, myostatin may support oxidative metabolism and endurance. Loss of function through gene knockout or post‐natal blockade generally lowers muscle oxidative capacity and increases fatigability. These observations imply that myostatin activation could promote a more oxidative and less fatigable muscle ...
Andy V. Khamoui, Andrea Abraham, Janos Porszasz, Istvan Kovanecz, Silvana Constantinescu, Harry B. Rossiter, Suzanne Reisz‐Porszasz   +6 more
wiley   +1 more source

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

Mathematical model of the zebrafish ventricular cardiomyocyte action potential and calcium transient

The Journal of Physiology, EarlyView.
Abstract figure legend This study presents the development and validation of the first biophysically detailed computational model of the zebrafish ventricular action potential (AP). The model is based on a human cardiomyocyte framework and reparameterized using published and newly generated patch‐clamp recordings of zebrafish ionic currents.
Ludovica Cestariolo, Zachary D. Long, Arie O. Verkerk, Jose M. Ferrero, T. Alexander Quinn, Jose F. Rodriguez Matas   +5 more
wiley   +1 more source

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

Intramuscular pathways of maladaptation in overtraining syndrome

The Journal of Physiology, EarlyView.
Abstract figure legend The transition from adaptive overreaching to maladaptive overtraining and mechanisms through which excessive training load can lead to performance decline. Four interconnected pathophysiological domains are highlighted: neural fatigue, involving both central and peripheral components such as altered sensory feedback and reflex ...
Emily Shorter, Oscar Horwath, Sabrina Tzivia Barsky, Ferdinand von Walden, Johanna T. Lanner   +4 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