Results 81 to 90 of about 191,822 (304)

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

The Role of Light–Dark Regulation of the Chloroplast ATP Synthase

Frontiers in Plant Science, 2017
The chloroplast ATP synthase catalyzes the light-driven synthesis of ATP and is activated in the light and inactivated in the dark by redox-modulation through the thioredoxin system.
Kaori Kohzuma, John E. Froehlich, John E. Froehlich, Geoffry A. Davis, Geoffry A. Davis, Joshua A. Temple, Deepika Minhas, Amit Dhingra, Jeffrey A. Cruz, Jeffrey A. Cruz, David M. Kramer, David M. Kramer   +11 more
doaj   +1 more source

ATP synthase evolution on a cross-braced dated tree of life

, 2023
Tara Mahendrarajah, Edmund R. R. Moody, Dominik Schrempf, Lénárd L. Szánthó, Nina Dombrowski, Adrián Davín, Davide Pisani, Philip C. J. Donoghue, Gergely J. Szöllősi, Tom A. Williams, Anja Spang   +10 more
openalex   +1 more source

A 57‐Year‐Old Male With Behavioral Variant Frontotemporal Dementia and MATR3 and NOS3 Mutations

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT This report presents a case of behavioral variant frontotemporal dementia caused by mutations in the MATR3 and NOS3 genes, aiming to analyze its clinical manifestations and genetic characteristics. For a case presenting with personality changes and gait abnormalities as the initial symptoms, this study conducted a comprehensive analysis of its
Feifei Lin, Saie Huang
wiley   +1 more source

Re‐Purposing Sapropterin (Kuvan) for ACTA2‐Related Multisystemic Smooth Muscle Dysfunction Syndrome: A Translational Mechanistic and First‐In‐Human Therapeutic Report

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Multisystemic smooth muscle dysfunction syndrome (MSMDS) is an ultra‐rare, ACTA2‐related disorder characterized by severe cerebrovascular disease, aortic aneurysms, and smooth muscle dysfunction. Using molecular dynamics simulations and in silico drug screening, we identified that sapropterin dihydrochloride (Kuvan) is a candidate capable of ...
Moran Hausman‐Kedem, Noa Bielopolski, Vijai Krishnan, Shane Wald‐Altman, Shelly I Shrian, Omer Bar‐Yosef, Livia Kapusta, Claire Shamber, Patricia L. Musolino, Miguel Weil   +9 more
wiley   +1 more source

Engineering Nanoplatforms for Alzheimer's Disease Detection via Biomolecular Corona Proteomic and Lipidomic Profiling

Advanced Healthcare Materials, EarlyView.
Engineered nanoparticles capture disease‐specific biomolecular coronas that uncover hidden molecular features of Alzheimer's disease. Combined proteomic and lipidomic analyses reveal a characteristic shift in ribosomal machinery and energy metabolism, generating a multiomic fingerprint that supports accurate disease detection and opens new ...
Antonietta Greco, Roberto Baretta, Andrea Di Fonzo, Andrea Armirotti, Stefano Cinti, Mara Mirasoli, Marco Frasconi, Claudia Corbo   +7 more
wiley   +1 more source

The molecular mechanism of ATP synthesis by F1F0-ATP synthase

Biochimica et Biophysica Acta (BBA) - Bioenergetics, 2002
ATP synthesis by oxidative phosphorylation and photophosphorylation, catalyzed by F1F0-ATP synthase, is the fundamental means of cell energy production. Earlier mutagenesis studies had gone some way to describing the mechanism. More recently, several X-ray structures at atomic resolution have pictured the catalytic sites, and real-time video recordings
Senior, Alan E., Nadanaciva, Sashi, Weber, Joachim   +2 more
openaire   +2 more sources

Macrophage Membrane‐Camouflaged Nanozyme Microneedles Restore Immunovascular Homeostasis Through SPP1‐ApoE Signaling in Diabetic Wounds

Advanced Healthcare Materials, EarlyView.
Macrophage membrane‐coated Cu/Zn‐MOF nanozyme microneedles (MNs) reprogram the diabetic wound microenvironment through localized, minimally invasive delivery. By suppressing M1‐like macrophage activation while promoting extracellular matrix deposition and angiogenesis, this biomimetic platform accelerates diabetic wound repair.
Qipeng Wu, Yuan Xiong, Li Lu, Han Wang, Hui Hu, Mohammad‐Ali Shahbazi, Guohui Liu, Bobin Mi   +7 more
wiley   +1 more source

Dissipation of the proton electrochemical gradient in chloroplasts promotes the oxidation of ATP synthase by thioredoxin-like proteins [PDF]

, 2022
Takatoshi Sekiguchi, Keisuke Yoshida, Ken‐ichi Wakabayashi, Toru Hisabori   +3 more
openalex   +1 more source

Nanomaterial Strategies for Pulmonary Delivery of Immunotherapeutics in Lung Cancer Treatment

Advanced Healthcare Materials, EarlyView.
Inhalable immunotherapeutic nanomedicines enable organ‐selective immune modulation by overcoming pulmonary delivery barriers and concentrating therapy within lung tumors. This Review defines how nanomaterial properties govern airway deposition, retention, cellular partitioning, and immune activation across vaccines, checkpoint blockade, STING agonists,
Han Zhang, Wei Tang
wiley   +1 more source