Results 31 to 40 of about 138,081 (263)

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

Response of piglets to the valine content in diet in combination with the supply of other branched-chain amino acids

Animal, 2011
The branched-chain amino acids (BCAA) valine (Val) and isoleucine (Ile) are considered to be among the next-limiting amino acids for growth in piglets.
M. Gloaguen, N. Le Floc'h, L. Brossard, R. Barea, Y. Primot, E. Corrent, J. van Milgen   +6 more
doaj   +1 more source

Augmenting and Assaying Nav1.1 Protein Quantity for Dravet Syndrome Therapy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Dravet Syndrome (DS) is a developmental and epileptic encephalopathy predominantly caused by heterozygous loss‐of‐function variants in SCN1A, which encodes Nav1.1. Conserved upstream open reading frames (uORFs) in SCN1A were validated to regulate translation in reporter assays, demonstrating the therapeutic viability of increasing Nav1.1 from ...
Aiswarya Saravanan, Jordan Safran, Anna Loughman, Grace Lin, Shivanshi Vaid, Dana Allababidi, Peter M. Tessier, Louis T. Dang   +7 more
wiley   +1 more source

The Effect of Dexamethasone-Mediated Atrophy on Mitochondrial Function and BCAA Metabolism During Insulin Resistance in C2C12 Myotubes

Metabolites
Background: Muscle loss during sarcopenia and atrophy is also commonly associated with age-related insulin resistance. Interestingly, branched-chain amino acids (BCAA) which are known for stimulating muscle protein synthesis are commonly elevated during ...
Kayla J. Ragland, Kipton B. Travis, Emmalie R. Spry, Toheed Zaman, Pamela M. Lundin, Roger A. Vaughan   +5 more
doaj   +1 more source

Sulfation‐Tunable Peptide‐Glycosaminoglycan Hydrogels for Hematopoietic Stem and Progenitor Cell Expansion

Advanced Functional Materials, EarlyView.
Co‐assembly of rationally designed glycosaminoglycan‐binding peptides with sulfated glycosaminoglycans yields supramolecular hydrogels with tunable mechanics and matrix‐mediated cytokine retention. The glycosaminoglycans thereby act as cofactors, driving a coil‐to‐β‐sheet transition that triggers gelation.
Shirel Veretnik, Prannoy Seth, Maximilian Fusenig, Jens Friedrichs, Nicole Fertala, Passant Atallah, Uwe Freudenberg, Ayala Lampel, Carsten Werner   +8 more
wiley   +1 more source

Computer quantum chemical modeling of the interaction of calcium phosphate with amino acids

Физико-химические аспекты изучения кластеров, наноструктур и наноматериалов, 2022
In this work, a quantum-chemical modeling of the process of interaction of calcium phosphate with amino acids was carried out. Within the framework of the quantum chemical modeling, the total energy of the molecular complex E, the energy difference ...
A.A. Blinova, A.V. Blinov, M.A. Pirogov, D.G. Maglakelidze, A.A. Yakovenko   +4 more
doaj   +1 more source

Patterned ELR‐Gelatin Hydrogels Enable Rapid Endothelial Monolayer Formation via Bioactive Matrix Chemistry and Surface Topography

Advanced Healthcare Materials, EarlyView.
Micro‐ and nano‐patterned elastin‐like recombinamer (ELR) hydrogels integrate bioactive matrix chemistry with defined surface topography. The combined cues promote rapid endothelial cell capture, alignment, and monolayer formation on soft substrates.
Jagoda Litowczenko, Yannick Richter, Martyna Michalska, Piotr Paczos, Karine Tadevosyan, Daniel Uribe, Jose Carlos Rodriguez‐Cabello, Ioannis Papakonstantinou, Angel Raya   +8 more
wiley   +1 more source

Branched-chain amino acids linked to depression in young adults

Frontiers in Neuroscience, 2022
Depression is a heterogeneous mental health problem affecting millions worldwide, but a majority of individuals with depression do not experience relief from initial treatments. Therefore, we need to improve our understanding of the biology of depression.
Alyce M. Whipp, Alyce M. Whipp, Marja Heinonen-Guzejev, Kirsi H. Pietiläinen, Kirsi H. Pietiläinen, Irene van Kamp, Jaakko Kaprio, Jaakko Kaprio   +7 more
doaj   +1 more source

Molecular Appendix Adjusted Architectural Propagations of Red‐Light Controlled Macroscopic Photoactuating Performances

Advanced Robotics Research, EarlyView.
Amphiphilic chloroazobenzenes, bearing different amino acids as end groups alanine, phenylalanine, and valine, exhibit excellent photoisomerizations. Varying structures of three amino acid groups participate in supramolecular formations and therefore photoinduced morphological transformations via adjusting intermolecular interactions. These interaction
Shuangshuang Meng, Ming‐Hin Chau, Takashi Kajitani, Franco King‐Chi Leung   +3 more
wiley   +1 more source

Valine biosynthesis in Saccharomyces cerevisiae is regulated by the mitochondrial branched-chain amino acid aminotransferase Bat1

Microbial Cell, 2018
In the yeast Saccharomyces cerevisiae, the branched-chain amino acid aminotransferases (BCATs) Bat1 and Bat2 catalyze the conversion of α-ketoisovalerate, α-keto-β-methylvalerate, and α-ketoisokaproate and into valine, isoleucine, and leucine ...
Natthaporn Takpho, Daisuke Watanabe, Hiroshi Takagi   +2 more
doaj   +1 more source