Results 101 to 110 of about 6,101 (249)
Functions and Therapeutic Potentials of Long Noncoding RNA in Skeletal Muscle Atrophy and Dystrophy
Journal of Cachexia, Sarcopenia and Muscle, Volume 16, Issue 2, April 2025.ABSTRACT Skeletal muscle is the most abundant tissue in the human body and is responsible for movement, metabolism, energy production and longevity. Muscle atrophy is a frequent complication of several diseases and occurs when protein degradation exceeds protein synthesis.
Yidi Zhang +4 more
wiley +1 more source
Alterations of Fat and Ketone Body Metabolism in ALS and SMA—A Prospective Observational Study
European Journal of Neurology, Volume 32, Issue 4, April 2025.ABSTRACT Background Amyotrophic lateral sclerdosis (ALS) and spinal muscular atrophy (SMA) are motor neuron diseases associated with distinct metabolic alterations. ALS patients feature an increased resting energy expenditure (REE) causing weight loss and cachexia. In SMA, a disturbed utilization of free fatty acids has been described.
C. Herrmann +10 more
wiley +1 more source
Preliminary insights into RNA in CSF of pediatric SMA patients after 6 months of nusinersen
Biology Direct, 2023 Background Spinal muscular atrophy (SMA) is a rare autosomal-recessive neurodegenerative disorder caused by mutations in survival motor neuron 1 (SMN1) gene, and consequent loss of function of SMN protein, which results in progressive loss of lower motor
M. Garofalo +16 more
doaj +1 more source
Predictive energy equations for spinal muscular atrophy type I children [PDF]
, 2020 BACKGROUND: Knowledge on resting energy expenditure (REE) in spinal muscular atrophy type I (SMAI) is still limited. The lack of a population-specific REE equation has led to poor nutritional support and impairment of nutritional status.
A. Battezzati +16 more
core +1 more source
Combinatorial treatment for spinal muscular atrophy [PDF]
, 2020 Spinal muscular atrophy (SMA) is a severe autosomal recessive motor neuron disease caused by loss of SMN1, which encodes a protein essential for motor neuron survival.
A. Poletti, K.H. Fischbeck
core +1 more source
Risdiplam in Adult Patients With 5q Spinal Muscular Atrophy: A Single‐Center Longitudinal Study
Muscle &Nerve, Volume 71, Issue 3, Page 384-391, March 2025.ABSTRACT Introduction/Aims Risdiplam was the first orally administered drug approved to treat spinal muscular atrophy (SMA). Efficacy in adults is based on short‐term observational studies. This longitudinal study aimed to examine risdiplam's efficacy and safety in adults over a long period of follow‐up. Methods All eligible SMA patients ≥ 16 years old,
Maria Gavriilaki +4 more
wiley +1 more source
Molecular Therapy: Methods & Clinical Development, 2021 This longitudinal cohort study aimed to determine whether circulating neurofilaments (NFs) can monitor response to molecular therapies in newborns with spinal muscular atrophy (SMA; NCT02831296).
Christiano R.R. Alves +13 more
doaj
Nano Approaches to Nucleic Acid Delivery: Barriers, Solutions, and Current Landscape
WIREs Nanomedicine and Nanobiotechnology, Volume 17, Issue 2, March/April 2025.Nano approaches for breaking barriers to nucleic acid delivery. ABSTRACT Nucleic acid (NA) therapy holds tremendous potential for treating a wide range of genetic diseases by the delivery of therapeutic genes into target cells. However, significant challenges exist in safely and effectively delivering these genes to their intended locations.
Joan Castaneda Gonzalez +8 more
wiley +1 more source
Advanced Science, Volume 12, Issue 8, February 24, 2025.This study explores how lipid nanoparticles interact with extracellular vesicles, emphasizing the importance of lipid nanoparticle topology in facilitating a controlled hybridization process between the two nanocarriers. The resulting hybrid nanoparticles display extracellular vesicle membrane proteins on their surface, are loaded with the nucleic acid
Johannes Bader +8 more
wiley +1 more source