Results 71 to 80 of about 15,296 (267)

Creatine Transporter Deficiency in Two Brothers with Autism Spectrum Disorder [PDF]

, 2018
Background Creatine transporter deficiency (CTD) is a treatable, X-linked, inborn error of metabolism. Case characteristics Two brothers with autism spectrum disorder were diagnosed with CTD at ...
Halil Ibrahim Aydin, Aydin, Halil Ibrahim   +1 more
core   +1 more source

A Single‐Cell Transcriptomic Atlas of the Ovine Rumen Microbiome Characterizes Lineage‐Specific Metabolic Shifts Associated with Host Heat Tolerance

Advanced Science, EarlyView.
An optimized single‐cell transcriptomic framework profiles over 60 000 cells to map the ovine rumen microbiome, partitioning the ecosystem into seven cross‐species functional clusters. In heat‐resistant hosts, a lineage‐specific metabolic shift in Anaerovibrio lipolyticus toward a highly glycolytic phenotype contributes to a “nutritional sparing ...
Sanbao Zhang, Qinyang Jiang, Junjie Ma, Jianwei Zou, Fan Wang, Feifei Lv, Yanna Huang, Yongcheng Wang, Ziye Xu   +8 more
wiley   +1 more source

Arginine and glycine stimulate creatine synthesis in creatine transporter 1-deficient lymphoblasts

, 2008
Creatine transporter 1 (CT1) defect is an X-linked disease that causes severe neurological impairment. No treatment has been available for this condition so far.
Alessandri MG, Battini R, Casarano M, Cioni G, Leuzzi V   +4 more
core   +2 more sources

Response of an Infant With Presumed Multiple Acyl‐CoA Dehydrogenase Deficiency (MADD) to Ketone Supplementation

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Multiple Acyl‐CoA Dehydrogenase Deficiency (MADD) is an autosomal recessive inborn error of metabolism caused by biallelic pathogenic variants in one of three known genes: ETFA, ETFB, and ETFDH. It can cause multisystem dysfunction, including cardiomyopathy in severe cases.
Yutaka Furuta, Kaitlyn N. Bloom, Jerry Vockley, Angela R. Grochowsky, Neena S. Agrawal, Ellen W. Strickler, Natalie N. Owen, Erica T. Gray, B. Lakshitha A. Perera, Eric R. Gamazon, Lynette C. Rives, Hua‐Chang Chen, Qi Liu, Rizwan Hamid, Joy D. Cogan, John A. Phillips III, Thomas A. Cassini, Bryce A. Schuler   +17 more
wiley   +1 more source

The EXPLAIN Study: Exploring Arthrogryposis Multiplex Congenita in Adults in Norway — A Description of Demographic, Medical, and Neurological Findings

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis Multiplex Congenita (AMC) encompasses several hundred conditions with diverse genetic, pathophysiological, and clinical origins. The overarching EXPLAIN study explores underlying causes and implications of AMC and represents the largest clinical cohort of adults with AMC reported to date.
My Vuong Hermansen, Kristin Ørstavik, Unni Steen, Mathias Toft, Cathrine Brunborg, Lena Lande Wekre   +5 more
wiley   +1 more source

Efeito antidepressivo e neuroprotetor da creatina [PDF]

, 2013
Tese (doutorado) - Universidade Federal de Santa Catarina, Centro de Ciências Biológicas, Programa de Pós-Graduação em Neurociências, Florianópolis, 2013.A creatina modula a bioenergética celular e apresenta efeito antiexcitotóxico, antioxidante e ...
Cunha, Maurício Peña
core  

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

X-linked creatine deficiency syndrome: A novel mutation in creatine transporter gene SLC6A8

, 2002
Among creatine deficiency syndromes, an X-linked condition related to a defective creatine transport into the central nervous system has been described recently.
Bizzi, A., Alberto Bizzi, Graziella Uziel, Ugo Danesi, Bugiani, M., Salomons, G. S., Margherita Estienne, Hunneman, Donald H., Marianna Bugiani, Estienne, M., Donald H. Hunneman, Isabella Moroni, Gajja S. Salomons, Uziel, G., Danesi, U., Cornelis Jakobs, Jakobsen, Jannik E., Moroni, I.   +17 more
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

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