Summary: Genetic alterations impacting ubiquitously expressed proteins involved in RNA metabolism often result in neurodegenerative conditions, with increasing evidence suggesting that translation defects can contribute to disease.
Paola Bernabò+14 more
doaj
Spinal Muscular Atrophy (SMA) is a severe neuromuscular disorder caused by loss of the Survival Motor Neuron 1 gene (SMN1). Due to this depletion of the survival motor neuron (SMN) protein, the disease is characterized by the degeneration of spinal cord ...
Alba Sansa+4 more
doaj
ABSTRACT Glucagon‐like peptide‐1 receptor agonists (GLP‐1 RAs) have demonstrated substantial weight loss effects among patients with diabetes and obesity. However, given the rapid weight loss induced, there is concern about the total change in body composition, including lean body mass (LBM).
Jimmy Wen+8 more
wiley +1 more source
Genetic correction of spinal muscular atrophy (SMA) neurons with a nonviral, nonintegrating vector [PDF]
openalex +1 more source
The Need for SMN-Independent Treatments of Spinal Muscular Atrophy (SMA) to Complement SMN-Enhancing Drugs [PDF]
Niko Hensel+2 more
openalex +1 more source
A Perturbed MicroRNA Expression Pattern Characterizes Embryonic Neural Stem Cells Derived from a Severe Mouse Model of Spinal Muscular Atrophy (SMA) [PDF]
Andrea Luchetti+8 more
openalex +1 more source
Metalloprotease-mediated cleavage of PlexinD1 and its sequestration to actin rods in the motoneuron disease spinal muscular atrophy (SMA) [PDF]
Sebastian Rademacher+13 more
openalex +1 more source
Two-year efficacy and safety of risdiplam in patients with type 2 or non-ambulant type 3 spinal muscular atrophy (SMA) [PDF]
Maryam Oskoui+21 more
openalex +1 more source
B.06 Safety and efficacy of nusinersen in infants/children with spinal muscular atrophy (SMA): part 1 of the phase 2 EMBRACE study [PDF]
PB Shieh+13 more
openalex +1 more source