[HTML][HTML] Small molecule recognition of disease-relevant RNA structures
SM Meyer, CC Williams, Y Akahori, T Tanaka… - Chemical Society …, 2020 - pubs.rsc.org
Targeting RNAs with small molecules represents a new frontier in drug discovery and
development. The rich structural diversity of folded RNAs offers a nearly unlimited reservoir …
development. The rich structural diversity of folded RNAs offers a nearly unlimited reservoir …
Base editing rescue of spinal muscular atrophy in cells and in mice
Spinal muscular atrophy (SMA), the leading genetic cause of infant mortality, arises from
survival motor neuron (SMN) protein insufficiency resulting from SMN1 loss. Approved …
survival motor neuron (SMN) protein insufficiency resulting from SMN1 loss. Approved …
Natural history of infantile‐onset spinal muscular atrophy
Objective Infantile‐onset spinal muscular atrophy (SMA) is the most common genetic cause
of infant mortality, typically resulting in death preceding age 2. Clinical trials in this …
of infant mortality, typically resulting in death preceding age 2. Clinical trials in this …
Biodistribution of onasemnogene abeparvovec DNA, mRNA and SMN protein in human tissue
G Thomsen, AHM Burghes, C Hsieh, J Do, BTT Chu… - Nature medicine, 2021 - nature.com
Spinal muscular atrophy type 1 (SMA1) is a debilitating neurodegenerative disease resulting
from survival motor neuron 1 gene (SMN1) deletion/mutation. Onasemnogene abeparvovec …
from survival motor neuron 1 gene (SMN1) deletion/mutation. Onasemnogene abeparvovec …
SMN2 splice modulators enhance U1–pre-mRNA association and rescue SMA mice
J Palacino, SE Swalley, C Song, AK Cheung… - Nature chemical …, 2015 - nature.com
Spinal muscular atrophy (SMA), which results from the loss of expression of the survival of
motor neuron-1 (SMN1) gene, represents the most common genetic cause of pediatric …
motor neuron-1 (SMN1) gene, represents the most common genetic cause of pediatric …
Spinal muscular atrophy: diagnosis and management in a new therapeutic era
WD Arnold, D Kassar, JT Kissel - Muscle & nerve, 2015 - Wiley Online Library
Spinal muscular atrophy (SMA) describes a group of disorders associated with spinal motor
neuron loss. In this review we provide an update regarding the most common form of SMA …
neuron loss. In this review we provide an update regarding the most common form of SMA …
Diverse role of survival motor neuron protein
RN Singh, MD Howell, EW Ottesen… - Biochimica et Biophysica …, 2017 - Elsevier
Abstract The multifunctional Survival Motor Neuron (SMN) protein is required for the survival
of all organisms of the animal kingdom. SMN impacts various aspects of RNA metabolism …
of all organisms of the animal kingdom. SMN impacts various aspects of RNA metabolism …
SMN2 splicing modifiers improve motor function and longevity in mice with spinal muscular atrophy
NA Naryshkin, M Weetall, A Dakka, J Narasimhan… - science, 2014 - science.org
Spinal muscular atrophy (SMA) is a genetic disease caused by mutation or deletion of the
survival of motor neuron 1 (SMN1) gene. A paralogous gene in humans, SMN2, produces …
survival of motor neuron 1 (SMN1) gene. A paralogous gene in humans, SMN2, produces …
Spinal muscular atrophy: why do low levels of survival motor neuron protein make motor neurons sick?
AHM Burghes, CE Beattie - Nature Reviews Neuroscience, 2009 - nature.com
Many neurogenetic disorders are caused by the mutation of ubiquitously expressed genes.
One such disorder, spinal muscular atrophy, is caused by loss or mutation of the survival …
One such disorder, spinal muscular atrophy, is caused by loss or mutation of the survival …