Results 71 to 80 of about 6,531 (222)

Cerebral Creatine Deficiency Syndromes [PDF]

, 2012
Introduction: Creatine deficiency syndromes are a recently described group of diseases characterized by inborn errors of creatine metabolism. Clinical features include a spectrum of neurodevelopment disorders of diverse severity.
Diogo, L, Oliveira, G, Fineza, I, Garcia, P, Malheiro, R   +4 more
core  

Treatment outcome of creatine transporter deficiency: international retrospective cohort study.

, 2018
peer reviewedTo evaluate the outcome of current treatment for creatine transporter (CRTR) deficiency, we developed a clinical severity score and initiated an international treatment registry.
Lionel van Maldergem, Koeberl, Dwight D, Joost, Kairit, Mercimek-Andrews, Saadet, Salomons, Gajja S., Ounap, Katrin, Koeberl, Dwight D., Bandeira, Anabela O, Sarah Sidky, Dwight D. Koeberl, Gajja S. Salomons, DEBRAY, François-Guillaume, Sidky, Sarah, Bandeira, Anabela O., Anabela O. Bandeira, Bruun, Theodora U. J., Jennifer Goldstein, Theodora U. J. Bruun, van Maldergem, Lionel, Diogo Luísa, Katrin Õunap, Bruun, Theodora U J, O’Sullivan, Siobhan, Marie-Cecile Nassogne, Kairit Joost, Nassogne, Marie-Cecile, O'Sullivan, Siobhan, Saadet Mercimek-Andrews, Debray, Francoise-Guillaume, Can Ficicioglu, Andreas Schulze, Ficicioglu, Can, Goldstein, Jennifer, Salomons, Gajja S, Francoise-Guillaume Debray, Siobhan O’Sullivan, Schulze, Andreas, Luisa, Diogo   +37 more
core   +1 more source

Electroenzymatic CO2 Fixation

Angewandte Chemie International Edition, EarlyView.
Electroenzymatic CO2 fixation enables energy‐efficient, highly selective synthesis of complex molecules. Unlocking its full potential requires fundamental understanding of electrode‐coupled reductases and carboxylases. This review critically discusses available enzymes, product scope, and key thermodynamic and kinetic considerations, highlighting ...
Leonardo Castañeda‐Losada, Michael Richter, Christophe Léger, Vincent Fourmond, Nicolas Plumeré   +4 more
wiley   +1 more source

Current and potential new treatment strategies for creatine deficiency syndromes.

, 2022
Creatine deficiency syndromes (CDS) are inherited metabolic disorders caused by mutations in GATM, GAMT and SLC6A8 and mainly affect central nervous system (CNS).
Fernandes-Pires, G., Braissant, O.
core   +1 more source

Dual Action of Dipyridamole in Experimental Rheumatoid Arthritis: Suppression of Joint Inflammation and Upregulation of Muscle Anabolism via Adenosine and AMPK Pathways

Arthritis &Rheumatology, EarlyView.
Objective Rheumatoid sarcopenia, characterized by the progressive loss of skeletal muscle mass and function, is a frequent comorbidity in rheumatoid arthritis (RA), linked to prolonged, severe systemic inflammation. Purinergic signaling (adenosine, AMP, and ATP) plays a crucial role in inflammation, myogenesis, and muscle hypertrophy.
Miguel Marco‐Bonilla, Maria Fresnadillo, Irene Sanchez‐Platero, Macarena de la Riva‐Bueno, Fernando Huete‐Toral, Gonzalo Carracedo, Carmen Conde, Yolanda Benitez, Pablo Minguez, Sandra Carolina Cifuentes, Joaquin Rams, Gabriel Herrero‐Beaumont, Raquel Largo, Aránzazu Mediero   +13 more
wiley   +1 more source

Evaluation of SLC6A8 species conservation and the effect of pathogenic variants on creatine transport

HGG Advances
Summary: Creatine phosphate is a high-energy molecule essential for the normal functioning of highly metabolically active organs and tissues. SLC6A8 encodes the only known creatine transporter in humans (CRT1); pathogenic variants result in a ...
Taryn Diep, Gerald S. Lipshutz
doaj   +1 more source

Rare disease variant curation from literature: assessing gaps with creatine transport deficiency in focus

BMC Genomics, 2023
Background Approximately 4–8% of the world suffers from a rare disease. Rare diseases are often difficult to diagnose, and many do not have approved therapies.
Erica L. Lyons, Daniel Watson, Mohammad S. Alodadi, Sharie J. Haugabook, Gregory J. Tawa, Fady Hannah-Shmouni, Forbes D. Porter, Jack R. Collins, Elizabeth A. Ottinger, Uma S. Mudunuri   +9 more
doaj   +1 more source

Linking Brain Morphometry to Psychometric Measures and Energy‐Metabolic Biomarkers in Adults With Autism Spectrum Disorder

Autism Research, EarlyView.
ABSTRACT Autism spectrum disorder (ASD) is associated with differences in neurodevelopment and altered metabolism, yet the interplay between brain morphometry, mitochondrial and energy metabolism biomarkers, and autistic traits in adults remains poorly understood. This study investigates the link between brain structure, psychometric measures, and both
Eleonora Esposto, Kathrin Nickel, Dominique Endres, Kimon Runge, Katharina Domschke, Thomas Lange, Marco Reisert, Anke Schumann, Cinzia Niolu, Ludger Tebartz van Elst, Simon Maier   +10 more
wiley   +1 more source

Creatine transporter (SLC6A8) knockout mice exhibit reduced muscle performance, disrupted mitochondrial Ca2+ homeostasis, and severe muscle atrophy

Cell Death and Disease
Creatine (Cr) is essential for cellular energy homeostasis, particularly in muscle and brain tissues. Creatine Transporter Deficiency (CTD), an X-linked disorder caused by mutations in the SLC6A8 gene, disrupts Cr transport, leading to intellectual ...
Irene Pertici, Donato D’Angelo, Denis Vecellio Reane, Massimo Reconditi, Ilaria Morotti, Elena Putignano, Debora Napoli, Giorgia Rastelli, Gaia Gherardi, Agnese De Mario, Rosario Rizzuto, Simona Boncompagni, Laura Baroncelli, Marco Linari, Marco Caremani, Anna Raffaello   +15 more
doaj   +1 more source

Biomaterial design strategies for enhancing mitochondrial transplantation therapy

BMEMat, EarlyView.
Biomaterials to facilitate mitochondrial transplantation therapy: biomaterials as barriers to protect mitochondria from pathophysiological microenvironments, like osmotic stress caused by the excessive concentration of calcium ion, reactive oxygen species, and advanced glycation end products; biomaterials integrating with biochemical cues to improve ...
Shaoyang Kang, Yushan Zhang, Hang Li, Sirui Peng, Donghao Lyu, Chunxiao Zhou, Sheng Ding, Zujian Feng, Pingsheng Huang, Chuangnian Zhang, Hongjun Wang, Deling Kong, Weiwei Wang   +12 more
wiley   +1 more source