Results 101 to 110 of about 55,853 (286)

Targeting a therapeutic LIF transgene to muscle via the immune system ameliorates muscular dystrophy. [PDF]

, 2019
Many potentially therapeutic molecules have been identified for treating Duchenne muscular dystrophy. However, targeting those molecules only to sites of active pathology is an obstacle to their clinical use.
Bertoni, Carmen, Flores, Ivan, Ramos, Julian, Tidball, James G, Wang, Ying, Wehling-Henricks, Michelle, Welc, Steven S   +6 more
core  

Pyridoxal Reprograms Peroxisomal Hydrogen Peroxide Metabolism to Induce Lethal Oxidative Stress in Ovarian Cancer

iMetaMed, EarlyView.
Pyridoxal (PL) exhibits the strongest anti‐tumor activity within the vitamin B6 family, demonstrating significant ovarian cancer cell‐killing efficacy in vivo, in vitro, and in patient‐derived organoid (PDO) models. The anti‐tumor mechanism involves PL inducing a shift in peroxisome dynamics towards fission, promoting peroxisome proliferation, and ...
Ruonan Li, Huiyan Wang, Dunke Zhang, Qiuying Gu, Jinlong Wang, Bin Liu, Huabin Gao, Jingya Duan, Yimin Liu, Xiaolan Huang, Youquan Bu, Tongchuan He, Hua Linghu   +12 more
wiley   +1 more source

An error in dystrophin mRNA processing in golden retriever muscular dystrophy, an animal homologue of Duchenne muscular dystrophy

Genomics, 1992
Golden retriever muscular dystrophy (GRMD) is a spontaneous, X-linked, progressively fatal disease of dogs and is also a homologue of Duchenne muscular dystrophy (DMD). Two-thirds of DMD patients carry detectable deletions in their dystrophin gene. The defect underlying the remaining one-third of DMD patients is undetermined.
Sharp, N. J. H., Kornegay, J. N., Van Camp, S. D., Herbstreith, M. H., Secore, S. L., Kettle, S., Hung, W. -Y, Constantinou-Deltas, Constantinos D., Dykstra, M. J., Roses, A. D., Bartlett, R. J., Sharp, N. J. H., Kornegay, J. N., Van Camp, S. D., Herbstreith, M. H., Secore, S. L., Kettle, S., Hung, W. -Y, Constantinou-Deltas, Constantinos D., Dykstra, M. J., Roses, A. D., Bartlett, R. J.   +21 more
openaire   +3 more sources

Feasibility of High‐Density Surface Electromyography for the Detection of Neuromuscular Disorders in Children

Muscle &Nerve, EarlyView.
ABSTRACT Introduction/Aims Diagnosing neuromuscular disorders in children is challenging. Concentric needle electromyography (CNEMG) is the standard for electrophysiological assessments but has limitations in pediatric populations. High‐density surface electromyography (HDsEMG) provides a noninvasive technique with superior spatial resolution, enabling
Eduardo Martinez‐Valdes, Ignacio Contreras‐Hernandez, Ragul Selvamoorthy, Francesco Negro, Andrew Lawley   +4 more
wiley   +1 more source

A duchenne muscular dystrophy gene hot spot mutation in dystrophin-deficient cavalier king charles spaniels is amenable to exon 51 skipping.

PLoS ONE, 2010
BackgroundDuchenne muscular dystrophy (DMD), which afflicts 1 in 3500 boys, is one of the most common genetic disorders of children. This fatal degenerative condition is caused by an absence or deficiency of dystrophin in striated muscle.
Gemma L Walmsley, Virginia Arechavala-Gomeza, Marta Fernandez-Fuente, Margaret M Burke, Nicole Nagel, Angela Holder, Rachael Stanley, Kate Chandler, Stanley L Marks, Francesco Muntoni, G Diane Shelton, Richard J Piercy   +11 more
doaj   +1 more source

Oxidative stress in Duchenne muscular dystrophy: focus on the NRF2 redox pathway [PDF]

, 2017
Oxidative stress is involved in the pathogenesis of Duchenne muscular dystrophy (DMD), an X-linked genetic disorder caused by mutations in the dystrophin gene and characterized by progressive, lethal muscle degeneration and chronic inflammation.
Bertini, Enrico, Catteruccia, Michela, D'Amico, Adele, FORCINA, LAURA, MUSARO', Antonio, PELOSI, LAURA, Petrillo, Sara, Petrini, Stefania, Piemonte, Fiorella, Travaglini, Lorena, Verardo, Margherita   +10 more
core   +1 more source

The Effect of Thymectomy on the Incidence of Extrathymic Cancers and Autoimmune Diseases in Patients With Non‐Thymomatous Myasthenia Gravis

Muscle &Nerve, EarlyView.
ABSTRACT Introduction/Aims Thymectomy is associated with positive effects on myasthenia gravis (MG), but there is conflicting evidence regarding potential deleterious long‐term outcomes, such as increased cancer and autoimmune disease risk. We aimed to assess these outcomes in thymectomized versus non‐thymectomized MG patients.
Mohamed Khateb, Adnan Almasri, Carolina Barnett‐Tapia, Vera Bril   +3 more
wiley   +1 more source

Emerin increase in regenerating muscle fibers

European Journal of Histochemistry, 2009
The fate of emerin during skeletal muscle regeneration was investigated in an animal model by means of crush injury. Immunofluorescence, immunoblotting and mRNA analysis demonstrated that emerin level is increased in regenerating rat muscle fibers with ...
S Squarzoni, P Sabatelli, C Capanni, G Lattanzi, C Rutigliano, M Columbaro   +5 more
doaj   +1 more source

Artificial restoration of the linkage between laminin and dystroglycan ameliorates the disease progression of MDC1A muscular dystrophy at all stages [PDF]

, 2005
Laminin-α2 deficient congenital muscular dystrophy, classified as MDC1A, is a severe progressive muscle-wasting disease that leads to death in early childhood.
Meinen, Sarina
core   +1 more source

Diagnosed After Birth—But Detectable Before? A Cohort Study of Prenatal Testing Potential

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To evaluate the yield of prenatal genetic testing in infants with a confirmed genetic diagnosis. Methods We retrospectively reviewed records of infants with a genetic diagnosis who were evaluated using a standardized genetic consult and testing approach. The predicted yield of various prenatal genetic sceening and diagnostic tools in
Allison Schartman, Olivia Woods, Leah Wetherill, Amy M. Breman, Benjamin M. Helm, Kristen Suhrie, Kristyne Stone   +6 more
wiley   +1 more source