Results 121 to 130 of about 253,218 (253)

Nucleases and Their Inhibitors: Exploring Biological Roles, Industrial Applications, and Challenges in Heterologous Expression

Biotechnology Journal, Volume 21, Issue 9, September 2026.
Graphical Abstract and Lay Summary Intracellular nucleases, depicted as blue circles in a nucleosome, hydrolyze phosphodiester bonds, repair damaged DNA using DNA base excision repair (BER), mismatch repair (MMR), and homologous recombination (HR), and are involved in DNA replication.
Wian Vermeulen, Anton Du Preez van Staden, Leon M. T. Dicks   +2 more
wiley   +1 more source

Revising NHE‐1: From Cardiac Homeostasis to Heart Failure and Future Drug Development

Cell Biochemistry and Function, Volume 44, Issue 9, September 2026.
ABSTRACT NHE‐1 is a Na+/H+ exchanger that receives phosphorylation signals, binds calmodulin and responds to neurohormonal input from angiotensin II, endothelin‐1, and adrenergic pathways. In cardiac myocytes, NHE‐1 maintains pH homeostasis and couples to Na+/Ca2+ exchange and mitochondrial ion handling. During heart disease sustained activation drives
Vasileios Bouratzis, Nikoleta Douskou, Nikolaos P. Tzavellas, Yannis V. Simos, Petros Bozidis, Konstantinos I. Tsamis, Georgios S. Markopoulos, Dimitrios Peschos, Lampros Lakkas   +8 more
wiley   +1 more source

From Single Cells to Diagnosis: Proteomics Technologies in the Multi‐Omics Landscape of Rare and Mitochondrial Diseases

Journal of Inherited Metabolic Disease, Volume 49, Issue 5, September 2026.
Wetzel et al. outline how individual omics methods contribute to the diagnosis of patients with rare, and particularly mitochondrial diseases, with a focus on how spatial proteomics is joining this multi‐omics stack. ABSTRACT Proteomics by mass spectrometry has rapidly matured from a niche method into a standard tool.
Simon Wetzel, Sebastian Porsdam Mann, Florian A. Rosenberger   +2 more
wiley   +1 more source

The Impact of Hydrotherapy on Health‐Related Quality of Life, Pain and Mobility in Individuals With Mucopolysaccharidosis Type II (Hunter Syndrome): A Pilot Feasibility Study

JIMD Reports, Volume 67, Issue 5, September 2026.
ABSTRACT Enzyme Replacement Therapy (ERT) is the clinical standard for Mucopolysaccharidosis II (MPSII), yet its limited penetration into poorly vascularised tissues such as bone, cartilage and heart valves leaves participants with significant musculoskeletal morbidity.
Andrew Oldham, Nicole Stockton, Mark Warburton, Calvin Heal, Marie Meehan, Karolina M. Stepien, on behalf of the MPS Society   +6 more
wiley   +1 more source

High‐Content CRISPR Screening: Methods and Applications

MedComm, Volume 7, Issue 9, September 2026.
High‐content CRISPR screening represents a paradigm shift in functional genomics, moving beyond traditional survival‐based readouts to enable multidimensional mapping of genotype–phenotype relationships. This review systematically outlines the methodological evolution of this approach, detailing advances in perturbation modalities, delivery systems ...
Yike Zhang, Yimeng Zhang, Xudong Tang, Xinyu Deng, Yitian Zhou, Yanfeng Wu, Jianhua Luo   +6 more
wiley   +1 more source

Cognitive Function in Duchenne Muscular Dystrophy Patients

Neurologijos seminarai
Duchenne muscular dystrophy is a rare, progressive, X-linked recessive disorder, characterized by impaired synthesis of the protein dystrophin. Motor symptoms in boys typically emerge within the first year of life, followed by progressive cardiac ...
Viktorija Urbanovič, Jurgita Grikinienė   +1 more
doaj   +1 more source

Exploring the Content Validity of Patient‐Reported Outcome Measures to Capture the Patient Experience of Becker Muscular Dystrophy

Muscle &Nerve, Volume 74, Issue 3, Page 559-569, September 2026.
ABSTRACT Introduction/Aims The patient experience of Becker muscular dystrophy (BMD) is not well understood, making it difficult to evaluate the conceptual relevance of proposed patient‐reported outcome (PRO) measures. This study aimed to conceptualize the patient experience of BMD and evaluate content validity and perceptions of meaningful changes of ...
Abby Bronson, Katie Mellor, Nicole Kilburn, Ryan Fischer, Natalie Aldhouse, Chris Marshall, Tamara Al‐zubeidi   +6 more
wiley   +1 more source

The Use of the Four Square Step Test and the 10‐m Walk/Run Test to Determine Fall Risk in Children With Duchenne Muscular Dystrophy

Muscle &Nerve, Volume 74, Issue 3, Page 740-746, September 2026.
ABSTRACT Introduction/Aims The identification of the risk of falling in Duchenne muscular dystrophy (DMD) is essential for the implementation of timely preventive approaches. This study aimed to examine the ability of the four square step test (FSST) and the 10‐m walk/run test (10MWRT) to discriminate between fallers and non‐fallers in children with ...
Numan Bulut, Esra Aldırmaz, İpek Alemdaroğlu‐Gürbüz, Öznur Tunca   +3 more
wiley   +1 more source

With Regard to the Expression Status of Sarcolemmal Aquaporin 4 in Human Muscular Dystrophies

Neurology and Clinical Neuroscience, Volume 14, Issue 5, Page 354-361, September 2026.
ABSTRACT Human muscular dystrophies are inherited muscle‐wasting diseases caused by the various kinds of gene mutations. Among them, Duchenne muscular dystrophy (DMD) is a representative type. Before the discovery of the causative dystrophin gene of DMD, the fragile myofiber plasma membrane was thought to be the trigger of myofiber necrosis in DMD ...
Yoshihiro Wakayama, Takahiro Jimi
wiley   +1 more source

Atrogin-1 promotes muscle homeostasis by regulating levels of endoplasmic reticulum chaperone BiP

JCI Insight
Skeletal muscle wasting results from numerous pathological conditions affecting both the musculoskeletal and nervous systems. A unifying feature of these pathologies is the upregulation of members of the E3 ubiquitin ligase family, resulting in increased
Avnika A. Ruparelia, Margo Montandon, Jo Merriner, Cheng Huang, Siew Fen Lisa Wong, Carmen Sonntag, Justin P. Hardee, Gordon S. Lynch, Lee B. Miles, Ashley Siegel, Thomas E. Hall, Ralf B. Schittenhelm, Peter D. Currie   +12 more
doaj   +1 more source