Diverse role of survival motor neuron protein
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 …
Emerging therapies and challenges in spinal muscular atrophy
Spinal muscular atrophy (SMA) is a hereditary neurodegenerative disease with severity
ranging from progressive infantile paralysis and premature death (type I) to limited motor …
ranging from progressive infantile paralysis and premature death (type I) to limited motor …
Stress induces dynamic, cytotoxicity-antagonizing TDP-43 nuclear bodies via paraspeckle LncRNA NEAT1-mediated liquid-liquid phase separation
Despite the prominent role of TDP-43 in neurodegeneration, its physiological and
pathological functions are not fully understood. Here, we report an unexpected role of TDP …
pathological functions are not fully understood. Here, we report an unexpected role of TDP …
Oxidative stress: roles in skeletal muscle atrophy
H Zhang, G Qi, K Wang, J Yang, Y Shen, X Yang… - Biochemical …, 2023 - Elsevier
Oxidative stress, inflammation, mitochondrial dysfunction, reduced protein synthesis, and
increased proteolysis are all critical factors in the process of muscle atrophy. In particular …
increased proteolysis are all critical factors in the process of muscle atrophy. In particular …
The role of survival motor neuron protein (SMN) in protein homeostasis
Ever since loss of survival motor neuron (SMN) protein was identified as the direct cause of
the childhood inherited neurodegenerative disorder spinal muscular atrophy, significant …
the childhood inherited neurodegenerative disorder spinal muscular atrophy, significant …
The first orally deliverable small molecule for the treatment of spinal muscular atrophy
Spinal muscular atrophy (SMA) is one of the leading causes of infant mortality. SMA is
mostly caused by low levels of Survival Motor Neuron (SMN) protein due to deletion of or …
mostly caused by low levels of Survival Motor Neuron (SMN) protein due to deletion of or …
How the discovery of ISS-N1 led to the first medical therapy for spinal muscular atrophy
Spinal muscular atrophy (SMA), a prominent genetic disease of infant mortality, is caused by
low levels of survival motor neuron (SMN) protein owing to deletions or mutations of the …
low levels of survival motor neuron (SMN) protein owing to deletions or mutations of the …
Diverse targets of SMN2-directed splicing-modulating small molecule therapeutics for spinal muscular atrophy
Designing an RNA-interacting molecule that displays high therapeutic efficacy while
retaining specificity within a broad concentration range remains a challenging task …
retaining specificity within a broad concentration range remains a challenging task …
ISS-N1 makes the first FDA-approved drug for spinal muscular atrophy
EW Ottesen - Translational neuroscience, 2017 - degruyter.com
Spinal muscular atrophy (SMA) is one of the leading genetic diseases of children and
infants. SMA is caused by deletions or mutations of Survival Motor Neuron 1 (SMN1) gene …
infants. SMA is caused by deletions or mutations of Survival Motor Neuron 1 (SMN1) gene …
Mechanism of splicing regulation of spinal muscular atrophy genes
Spinal muscular atrophy (SMA) is one of the major genetic disorders associated with infant
mortality. More than 90% cases of SMA result from deletions or mutations of Survival Motor …
mortality. More than 90% cases of SMA result from deletions or mutations of Survival Motor …