Results 41 to 50 of about 78,813 (265)

HMGCR‐Driven Cholesterol Metabolism Promotes Osteoarthritis Progression by Accelerating Synovial Fibroblast Senescence

Advanced Science, EarlyView.
In the pathological context of osteoarthritis (OA), the phosphorylation of AKT1 at Ser473 enhances its binding to Lys140 of Insig1, which facilitates the formation of AKT1–Insig1 complex. Subsequently, the activation of AKT1 promotes the phosphorylation of Insig1 at Ser189, potentially enhancing the dissociation of Insig1 from sterol regulatory element‑
Xiaoqi Zhang, Siru Zhou, Xi Liu, Wei Xiang, Xiuqin Peng, Yu Tian, Song Li, Hailin Wang, Bo Liao, Shunzheng Fang, Runze Jin, Jinhui Wu, Chuanqing Bai, Wei Zhang, Bo Huang, Bingfei Li, Lifeng Chen, Lin Chen, Bin Zhang, Zhenhong Ni   +19 more
wiley   +1 more source

AAV-DJ is superior to AAV9 for targeting brain and spinal cord, and de-targeting liver across multiple delivery routes in mice

Journal of Translational Medicine
Highly efficient adeno associated viruses (AAVs) targeting the central nervous system (CNS) are needed to deliver safe and effective therapies for inherited neurological disorders.
Monika Chauhan, Audrey L. Daugherty, Fatemeh (Ellie) Khadir, Ozgun F. Duzenli, Alexandra Hoffman, Jennifer A. Tinklenberg, Peter B. Kang, George Aslanidi, Christina A. Pacak   +8 more
doaj   +1 more source

Maternal Exercise Rescues Embryonic Osteogenesis Impaired due to POLG Mutation Through a Potential Apelin‐ATF4 Axis

Advanced Science, EarlyView.
Maternal exercise (ME) increases apelin abundance across maternal and fetal tissues and is associated with improved fetal osteogenesis under POLG mutation‐induced mitochondrial dysfunction. Apelin‐APJ signaling is linked to enhanced mitochondrial function, Akt phosphorylation, and ATF4‐RUNX2 association, supporting coordinated fetal bone remodeling ...
Song Ah Chae, Ryan C. Riddle, Zhihua Jiang, Chaeyoung Shin, Min Du, Jun Seok Son   +5 more
wiley   +1 more source

Impact of C4BPA on Muscle progenitor cell differentiation: insights for Duchenne muscular dystrophy treatment

Cell Death and Disease
Fibroadipogenic precursor cells (FAPs) are key contributors to the fibrotic and adipogenic remodeling observed in Duchenne muscular dystrophy (DMD), yet their precise role in muscle degeneration remains unclear.
Esther Fernández-Simón, Ainoa Tejedera-Villafranca, Xiomara Fernández-Garabay, James Clark, Panagiotis Katsikis, Priyanka Mehra, Andrew Galloway, Alexandra Monceau, Elisa Villalobos, Dan Cox, Javier Ramón-Azcón, Juan M. Fernández-Costa, Jordi Díaz-Manera   +12 more
doaj   +1 more source

Microfluidic Valve‐Integrated Garment for Smooth Sequential Gradient Mechanotherapy

Advanced Intelligent Systems, EarlyView.
We present a soft wearable sleeve that delivers smooth, gap‐free compression using overlapping air‐filled actuators and tiny microfluidic valves. The system reduces bulk, lowers power needs, and uses a smartphone‐sized control box. It can provide sequential gradient compression, gradient pressure holding, and fast deflation, supporting more portable ...
Run Ze Gao, Chen Xi Huang, Drew M. Werbowski, Jacqueline Mary Kormylo, Clark R. Dickerson, Carolyn L. Ren   +5 more
wiley   +1 more source

Saponins as Natural Adjuvant for Antisense Morpholino Oligonucleotides Delivery In Vitro and in mdx Mice

Molecular Therapy: Nucleic Acids, 2018
Antisense oligonucleotide (AON) therapy for Duchenne muscular dystrophy has drawn great attention in preclinical and clinical trials, but its therapeutic applications are still limited due to inefficient delivery.
Mingxing Wang, Bo Wu, Sapana N. Shah, Peijuan Lu, Qilong Lu   +4 more
doaj   +1 more source

Streamlining Diagnosis of Bardet–Biedl Syndrome: New Diagnostic Algorithm With Updated Criteria

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Considerable advances have been made in our understanding of Bardet–Biedl syndrome (BBS), particularly in its core clinical features and molecular genetics, warranting an update to the existing diagnostic criteria framework. Using a rigorous, evidence‐based, and consensus‐driven process, a multidisciplinary group of international experts and ...
Jeremy J. Pomeroy, Jesse Richards, Brooke R. Sweeney, Seema Kumar, Katie E. Queen, Joshua Zaritsky, Carl H. Cramer, Elias I. Traboulsi, Brittni A. Scruggs, Erica E. Davis, Ekaterina Keifer, Emma McGibbon, Timothy Ogden, Bendert De Graaf, Tonia Hymers, Elizabeth Forsythe, Philip Beales   +16 more
wiley   +1 more source

Priorities when deciding on participation in early-phase gene therapy trials for Duchenne muscular dystrophy: a best–worst scaling experiment in caregivers and adult patients

Orphanet Journal of Rare Diseases, 2019
Purpose Several gene therapy trials for Duchenne muscular dystrophy initiated in 2018. Trial decision making is complicated by non-curative, time-limited benefits; the progressive, fatal course; and high unmet needs.
Ryan S. Paquin, Ryan Fischer, Carol Mansfield, Brennan Mange, Katherine Beaverson, Annie Ganot, Amy Strong Martin, Carl Morris, Colin Rensch, Valeria Ricotti, Leo J. Russo, Alesia Sadosky, Edward C. Smith, Holly L. Peay   +13 more
doaj   +1 more source

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

Lipids of dystrophic and normal mouse muscle: whole tissue and particulate fractions

Journal of Lipid Research, 1970
Myofibrillar, mitochondrial, and microsomal fractions were prepared from normal and dystrophic mouse limb muscle by differential centrifugation and analyzed for phospholipids and cholesterol.
K. OWENS, B.P. HUGHES
doaj   +1 more source