Results 71 to 80 of about 23,636 (243)

Insights into the Pathogenic Secondary Symptoms Caused by the Primary Loss of Dystrophin

Journal of Functional Morphology and Kinesiology, 2017
Duchenne muscular dystrophy (DMD) is an X-linked genetic disease in which the dystrophin gene is mutated, resulting in dysfunctional dystrophin protein. Without dystrophin, the dystrophin-glycoprotein complex (DGC) is unstable, leading to an increase in ...
Laura Forcina, Laura Pelosi, Carmen Miano, Antonio Musarò   +3 more
doaj   +1 more source

Targeting CRM1 for Progeria Syndrome Therapy

Aging Cell, EarlyView.
Pharmacological inhibition of CRM1 mediated by selinexor, the first‐in‐class selective inhibitor of CRM1, mitigates the senescent phenotype of Hutchinson‐Gilford progeria syndrome (HGPS) patients‐derived primary fibroblasts. Treatment of HGPS fibroblasts with selinexor promotes the clearances of progerin via autophagy activation, restores the ...
Adriana Soto‐Ponce, Marlon De Ita, Susana Castro‐Obregón, Diego Cortez, Yosef Landesman, Jonathan J. Magaña, Susana Gonzalo, Tania Zavaleta, Angelica Soberano‐Nieto, Juan Unzueta, Isabel Arrieta‐Cruz, Porfirio Nava, Aurora Candelario‐Martínez, Ian García‐Aguirre, Bulmaro Cisneros   +14 more
wiley   +1 more source

Infantile Cerebellar‐Retinal Degeneration Associated With Novel ACO2 Variants: Clinical Features and Insights From a Drosophila Model

Clinical Genetics, EarlyView.
Our Translational Loop integrates patient genetic data with Drosophila models to study disease mechanisms. We identified ACO2 variants in a patient linked to ICRD and show that our animal model mirrors key aspects of the disease. These insights help pinpoint therapeutic targets, advancing research toward treatments for rare genetic disorders.
Edgar Buhl, Suchika Garg, Marie Monaghan, Amy Preston, Marcus Likeman, Julianne Dare, Julie Evans, Lucie S. Taylor, Ian Berry, Kathryn Urankar, Paul G. D. Spry, Cathy Williams, Robert W. Taylor, Charlotte L. Alston, James J. L. Hodge, Anirban Majumdar   +15 more
wiley   +1 more source

Dystrophin S3059 phosphorylation partially attenuates denervation atrophy in mouse tibialis anterior muscles

Physiological Reports
The dystrophin protein has well‐characterized roles in force transmission and maintaining membrane integrity during muscle contraction. Studies have reported decreased expression of dystrophin in atrophying muscles during wasting conditions, and that ...
Kristy Swiderski, Timur Naim, Jennifer Trieu, Annabel Chee, Marco J. Herold, Andrew J. Kueh, Craig A. Goodman, Paul Gregorevic, Gordon S. Lynch   +8 more
doaj   +1 more source

Psychometric evaluation of the PROMIS parent proxy mobility item bank for use in Duchenne muscular dystrophy

Developmental Medicine &Child Neurology, EarlyView.
Abstract Aim To evaluate the psychometric properties and measurement quality of the Patient‐Reported Outcomes Measurement Information System Parent Proxy (PROMIS PP) Mobility item bank (v1.0, 23 items) for children with Duchenne muscular dystrophy (DMD), through Rasch statistical analysis. Method De‐identified PROMIS PP Mobility items were completed by
Linda Pax Lowes, Corinne M. Le Reun, Lindsay N. Alfano, Natalie F. Reash, Megan A. Iammarino, Shivangi Patel, Ivana F. Audhya   +6 more
wiley   +1 more source

Wearable sensors in paediatric neurology

Developmental Medicine &Child Neurology, EarlyView.
Types of signals monitored in children's natural environments using wearable sensors, and their associated applications in various paediatric neurological conditions. Plain language summary: https://onlinelibrary.wiley.com/doi/10.1111/dmcn.16267 Abstract Wearable sensors have the potential to transform diagnosis, monitoring, and management of children ...
Camila González Barral, Laurent Servais
wiley   +1 more source

Duchenne muscular dystrophy treatment with lentiviral vector containing mini‐dystrophin gene in vivo

MedComm
Duchenne muscular dystrophy (DMD) is an incurable X‐linked recessive genetic disease caused by mutations in the dystrophin gene. Many researchers aim to restore truncated dystrophin via viral vectors.
Xiaoyu Wang, Yanghui Zhu, Taiqing Liu, Lingyan Zhou, Yunhai Fu, Jinhua Zhao, Yinqi Li, Yeteng Zheng, Xiaodong Yang, Xiangjie Di, Yang Yang, Zhiyao He   +11 more
doaj   +1 more source

Dystrophin isoform deficiency and upper‐limb and respiratory function in Duchenne muscular dystrophy

Developmental Medicine &Child Neurology, EarlyView.
Mary Chesshyre, Deborah Ridout, Georgia Stimpson, Valeria Ricotti, Silvana De Lucia, Erik H Niks, Volker Straub, Laurent Servais, Jean‐Yves Hogrel, Giovanni Baranello, Adnan Manzur, UK NorthStar Clinical Network and Francesco Muntoni* on behalf of the iMDEX network.
Mary Chesshyre, Deborah Ridout, Georgia Stimpson, Valeria Ricotti, Silvana De Lucia, Erik H. Niks, Volker Straub, Laurent Servais, Jean‐Yves Hogrel, Giovanni Baranello, Adnan Manzur, UK NorthStar Clinical Network, Francesco Muntoni, on behalf of the iMDEX Network, Joana Domingos, Victoria Selby, Amy Wolfe, Lianne Abbott, Efthymia Panagiotopoulou, Mario Iodice, Maria Ash, Imelda de Groot, Merel Jansen, Maaike Pelsma, Marian Bobbert, Menno Van Der Holst, Yvonne D. Krom, Marjolein J. van Heur‐Neuman, Thomas Voit, Valérie Decostre, Stéphanie Gilabert, Michela Guglieri, Alexander Murphy, Anna Mayhew, Mariacristina Scoto, Anna Sarkozy, Pinki Munot, Stephanie Robb, Elaine Chan, V Robinson, W Girshab, V Crook, E Milev, L Abbott, A Wolfe, E O’Reilly, J Watts‐When, N Burnett, R Thomas, R Terespolsky, O Martinaeu, J Longatto, C Bettolo, M Guglieri, J Diaz‐Manera, G Tasca, M Elseed, R Muni‐Lofra, M James, D Moat, J Sodhi, K Wong, E Robinson, E Groves, R Rabb, H McMurchie, H Chase, Tracey Willis, C Rylance, N Birchall, E Wright, A Childs, K Pysden, C Martos, D Roberts, L. Pallant, S Walker, A Henderson, R Madhu, R Karuvattil, Y Balla, S Gregson, S Clark, E Wraige, H Jungbluth, V Gowda, M Vanegas, J. Sheehan, A Schofield, C Smith, I Hughes, E Whitehouse, S Warner, E Reading, N Emery, J Moustoukas, K Strachan, M Ong, M Atherton, N Mills, S Sanchez Marco, A Saxena, K Skone, J TeWaterNaude, H Davis, C Wood, A Majumdar, A Murugan, I Guarino, R Tomlinson, H Jarvis, L Wills, C Frimpong, J Watson, G Cobb, G Robertson, P Brink, J Burslem, C Adams, J Wong, S Joseph, I Horrocks, J Dunne, M DiMarco, S Brown, S McKenzie, K Torne, R Mohamed, V Velmurugan, M Prasad, S Sedehizadeh, A Schugal, R Keetley, S Williamson, K Payne, E Dowling, P Fenty, C de Goede, A Parkes, K Baxter, M Illingworth, N Bhangu, S Geary, J Palmer, K Shill, S Tirupathi, A Shah, D O’Donogue, J McVeigh, J McFetridge, G Nicfhirleinn, H Beattie, T Leyland, K Stevenson, N Hussain, D Baskaran, Z Lambat, R Sullivan, L Locke, G Ambegaonkar, D Krishnakumar, J Taylor, J Moores, E Stephen, J Tewnion, S Ramdas, M Sa, A Skippen, M Khries, C Lilien, H Ramjattan, F Taylor, H English, K Stewart, F Flint, E Bartram, R Noble   +176 more
wiley   +1 more source

Promising therapeutic approaches of utrophin replacing dystrophin in the treatment of Duchenne muscular dystrophy

Fundamental Research, 2022
Duchenne muscular dystrophy (DMD) is a serious genetic neuromuscular rare disease that is prevalent and caused by the mutation/deletion of the X-linked DMD gene that encodes dystrophin.
Ruo Wu, Yafeng Song, Shiwen Wu, Yongchang Chen   +3 more
doaj  

Stem cells from umbilical cord blood do have myogenic potential, with and without differentiation induction in vitro

Journal of Translational Medicine, 2009
The dystrophin gene, located at Xp21, codifies dystrophin, which is part of a protein complex responsible for the membrane stability of muscle cells. Its absence on muscle causes Duchenne Muscular Dystrophy (DMD), a severe disorder, while a defect of ...
Gollop Thomaz R, Zucconi Eder, Vieira Natássia M, Secco Mariane, Jazedje Tatiana, Vainzof Mariz, Zatz Mayana   +6 more
doaj   +1 more source