Results 181 to 190 of about 190,565 (312)

Histidine Supplementation Stabilizes Hearing and Vision and Improves Growth in HARS1‐Related Autosomal Recessive Disorder Associated With Usher‐Like Symptoms

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autosomal recessive HARS1‐related disorder (originally described as Usher syndrome type 3B) caused by a homozygous Y454S variant in the histidyl‐tRNA synthetase gene (HARS1) is characterized by progressive sensorineural hearing and vision loss and respiratory deterioration with risk for sudden death following febrile illnesses.
Victoria Mok Siu, Rosan Kenana, Rana Chakrabarti, Sarah D. P. Wilhelm, Joseph Andrews, Susan J. Leat, Christina Parker, Michael Miller, Leslie A. Nangle, Wendy McCaul, Ashfia Chowdhury, Natalie Hutchings, Ryan A. Adams, Lauren Guy, Mandy Rhody, Verena Juncal, Marisa I. Mendes, Desiree E. C. Smith, Gajja S. Salomons, Angelica A. Moresco, Daphne L. McCulloch, D. Holmes Morton, Ilka U. Heinemann, C. Anthony Rupar   +23 more
wiley   +1 more source

Mitochondrial β-carbonic anhydrase is a conserved metabolic rheostat for branched-chain amino acid catabolism and metabolic flexibility. [PDF]

New Phytol
Sharma N, Sharkey TD, Brandizzi F.
europepmc   +1 more source

Intracellular protein catabolism / 2

, 1977
Turk, Vito, International Symposium on Intracellular Protein Catabolism 1975 Ljubljana   +1 more
core  

Molecular mechanism of ischemic postconditioning in promoting diabetic ischemic brain injury repair via the microRNA‐34a–BDNF–SIX3 signaling axis

Animal Models and Experimental Medicine, EarlyView.
Diabetes combined with ischemic stroke (DMIS) exacerbates brain infarct size and neuronal damage compared to nondiabetic ischemic stroke (IS). This study reveals that microRNA‐34a (miR‐34a) plays a key role in DMIS pathogenesis: miR‐34a directly targets and suppresses brain‐derived neurotrophic factor (BDNF) and Sine oculis homeobox 3 (SIX3), promoting
Ling Zhao, Chunlan Zou, Junxian Li, Yang Yang, Yuanyuan Han, Tingyu Ke   +5 more
wiley   +1 more source

Perilipin‐2‐Anchored Lipid Droplet‐Targeting Phototheranostics

Angewandte Chemie, EarlyView.
This study reports two NIR theranostic dyes, C‐BDP‐OH and C‐BDP‐OMe. C‐BDP‐OMe targets lipid droplets via a dual‐anchoring mechanism with PLIN2, enabling wash‐free tumor imaging. With 62.6% photothermal conversion efficiency, it achieves tumor ablation by downregulating PLIN2, disrupting LD‐mitochondria crosstalk, and triggering apoptosis and ...
Lipeng Zhang, Jiyoung Yoo, Juan Bai, Sunghyun Kim, Yesim Bakan, Yongbin Zhang, Fangjun Huo, Jingying Zhou, Caixia Yin, Jong Seung Kim   +9 more
wiley   +2 more sources

Functional Analysis of <i>ZmABA8ox1b</i> in Regulating Maize Seed Germination via ABA Catabolism and Multi-Hormone Signaling Crosstalk. [PDF]

Plants (Basel)
Wang C, Li Y, Hao N, Sun L, Sun N, Wang Y, Zhang Y, Zhao S, Ye Y.   +8 more
europepmc   +1 more source

Phenotypic profiling of pristane‐induced mimicking human systemic lupus erythematosus in Macaca fascicularis

Animal Models and Experimental Medicine, EarlyView.
Pristane (5 mL/kg) induced a robust systemic lupus erythematosus (SLE)‐like phenotype in Macaca fascicularis, marked by elevated antinuclear antibody (ANA) levels and systemic clinical, hematological, and biochemical changes. This model closely reflects human SLE and provides a translational platform for disease studies and therapeutic evaluation ...
Jonny Jonny, Soetojo Wirjopranoto, Chairul A. Nidom, I Ketut Sudiana, Terawan A. Putranto, Elisa D. Pratiwi, Tiza W. Mawaddah, Astria N. Nidom, Reviany V. Nidom, Setyarina Indrasari, Irma Y. Rosytania, Hiqmah Y. Yana, Sanindita Kusumastuti   +12 more
wiley   +1 more source

IDH3A Deficiency Compromises Adaptive Thermogenesis and Exacerbates Obesity-Induced Metabolic Dysfunction via Impaired BCKDHA-Dependent BCAA Catabolism. [PDF]

Diabetes
Lu X, Bai N, Lyu J, Sun J, Su Y, Ye Y, Hu T, Liu T, Li W, Li X, Ma X, Yang Y, Bao Y.   +12 more
europepmc   +1 more source

Gut–Brain Axis Modulation by Short‐Chain Fatty Acids Exerts Disease‐Modifying Effects in a Murine Model of Drug‐Resistant Epilepsy

Annals of Neurology, EarlyView.
Objective Drug‐resistant epilepsy (DRE) remains a clinical challenge, as therapies modifying disease trajectory are lacking. Increasing evidence implicates gut microbiota dysbiosis in epilepsy pathophysiology, with short‐chain fatty acids (SCFAs) emerging as key microbial metabolites with neuroprotective and anti‐inflammatory properties.
Akash A. Bera, Rossella Di Sapia, Greta Volpedo, Sneha Anand, Eray Sahin, Pasquale Baldassarre, Francesca Buffelli, Andrea Petretto, Chiara Lavarello, James D. Mills, Gabriele Cattaneo, Ilaria Craparotta, Eleonora Aronica, Antonella Riva, Pasquale Striano, Annamaria Vezzani, Teresa Ravizza   +16 more
wiley   +1 more source

Hypoproteinemia and Hypogammaglobulinemia Due to a Homozygous FCGRT Mutation. [PDF]

J Clin Immunol
Ala AS, Lo B, Ozen A, Islek A, Tumgor G.
europepmc   +1 more source