Results 141 to 150 of about 248,141 (296)

Fabrication and use of D-serine biosensors for characterising D-serine signalling in rat brain [PDF]

D-serine is a co-agonist at NMDA receptors in the brain but the study of this amino acid is restricted by current techniques. I have designed highly sensitive D-serine biosensors that permit accurate real-time recordings of D-serine in the brain in a ...
Bibi, Shakila
core  

Potential Treatment for ADHD Based on Recovery from Tryptophan-Induced Central Fatigue by Powerful Competitive Inhibition of L-System Amino Acid Transporter. [PDF]

Int J Tryptophan Res
Yamamoto T, Koleda-Yamamoto B.
europepmc   +1 more source

RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Mitochondrial diseases are the most common inherited metabolic disorders, characterized by pronounced clinical and genetic heterogeneity that complicates molecular diagnosis. Although DNA‐based sequencing approaches have become standard in genetic testing, up to half of patients remain without a definitive diagnosis.
Zhimei Liu, Xin Duan, Fatemeh Peymani, Jia Wang, Chengjia Bao, Chaolong Xu, Ying Zou, Zixuan Zhang, Yunxi Zhang, Tongyue Li, Martin Pavlov, Junling Wang, Minhan Song, Tianyu Song, Xiaodi Han, Mingxi Sun, Danmin Shen, Ruoyu Duan, Huafang Jiang, Manting Xu, Holger Prokisch, Fang Fang   +21 more
wiley   +1 more source

Early Clinical, Imaging, and Pathological Characteristics of SRPK3/TTN‐Digenic Myopathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective SRPK3/TTN‐digenic myopathy was recently established as a skeletal muscle myopathy caused by digenic inheritance. This study characterizes the early clinical presentation of SRPK3/TTN‐digenic myopathy in one previously reported and seven newly identified pediatric patients.
Rotem Orbach, Sandra Donkervoort, Carola Hedberg‐Oldfors, Giovanni Baranello, Dimah Saade, Precilla D'Souza, Ruchee Patel, Eva Michael, A. Reghan Foley, Diana Bharucha‐Goebel, S. Jin Haugland, Meghan McAnally, Omer Abdul Hamid, Katherine Chao, Ellen F. Macnamara, Alan H. Beggs, Anna Sarkozy, Juliane Mueller, Steven A. Moore, Richard S. Finkel, Cynthia J. Tifft, Francesco Muntoni, Anders Oldfors, Carsten G. Bönnemann   +23 more
wiley   +1 more source

A high‐affinity, tryptophan‐selective amino acid transport system in human macrophages

Journal of Leukocyte Biology, 2006
R. Seymour, V. Ganapathy, A. Mellor, D. Munn   +3 more
semanticscholar   +1 more source

A 17 Year Old With Developmental Delay Presenting With Increasing Confusion and Imbalance

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Methylmalonic acidemia is an autosomal recessive genetic disorder primarily caused by defects in methylmalonyl‐CoA mutase and cobalamin (vitamin B12) metabolism. These defects disrupt the tricarboxylic acid cycle and oxidative phosphorylation, leading to the abnormal accumulation of metabolic products such as methylmalonic acid, propionic acid,
Wei Zhao, Yingli Zhang, Hongliang Zheng
wiley   +1 more source

Autophagosome maturation in primary rat hepatocytes.

, 2006
Nutrient deprivation of eukaryotic cells elicits a rapid survival response, including the induction of autophagy. Autophagy, or "self-eating", involves the formation of autophagosomes from an unknown membrane source and the sequestration of cytosolic ...
Kchl, R., Köchl, Robert
core  

Multi-omic characterization of a soil microbial consortium reveals critical role of succinate and glutamate metabolism during calcium carbonate precipitation. [PDF]

BMC Biotechnol
Anthony WE, Lin TT, Garcia M, Stohel I, Zhao S, Sadler N, Farris Y, Eder J, Couvillion S, McClure R.   +9 more
europepmc   +1 more source

Neurochemical Endpoints to Inform Early‐Stage Trials of Spinocerebellar Ataxia 2 and 3 in a Multisite Setting

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Neurochemical levels measured by brain MR spectroscopy (MRS) have been proposed as endpoints for clinical trials in early‐stage spinocerebellar ataxia (SCA) trials. We tested their trial‐readiness by quantifying neurochemicals in three affected brain regions in early‐stage cohorts of SCA2 and SCA3, examining their reproducibility in ...
James M. Joers, Yaqiao Wei, Dinesh K. Deelchand, Adam Berrington, Young Woo Park, Guita Banan, Michal Povazan, Jens T. Rosenberg, André J. W. van der Kouwe, Tetsuo Ashizawa, Khalaf O. Bushara, Chiadi U. Onyike, Sub H. Subramony, Jeremy D. Schmahmann, Brian J. Soher, Peter B. Barker, Thomas H. Mareci, Eva‐Maria Ratai, Lynn E. Eberly, Gülin Öz   +19 more
wiley   +1 more source

Nitrate transport and assimilation in Aspergillus nidulans

, 2012
In this study, several aspects of nitrate assimilation and transport have been studied using the filamentous fungus Aspergillus nidulans, which has been shown to be safe laboratory organism as judged by it’s pathogenicity towards insect larvae.
Akhtar, Naureen
core