Twenty-five years of spinal muscular atrophy research: from phenotype to genotype to therapy, and what comes next
Twenty-five years ago, the underlying genetic cause for one of the most common and
devastating inherited diseases in humans, spinal muscular atrophy (SMA), was identified …
devastating inherited diseases in humans, spinal muscular atrophy (SMA), was identified …
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 …
The role of survival motor neuron protein (SMN) in protein homeostasis
H Chaytow, YT Huang, TH Gillingwater… - Cellular and Molecular …, 2018 - Springer
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 …
Advances in therapy for spinal muscular atrophy: promises and challenges
Spinal muscular atrophy (SMA) is a devastating motor neuron disease that predominantly
affects children and represents the most common cause of hereditary infant mortality. The …
affects children and represents the most common cause of hereditary infant mortality. The …
The survival of motor neuron (SMN) protein interacts with the mRNA-binding protein HuD and regulates localization of poly (A) mRNA in primary motor neuron axons
C Fallini, H Zhang, Y Su, V Silani… - Journal of …, 2011 - Soc Neuroscience
Spinal muscular atrophy (SMA) results from reduced levels of the survival of motor neuron
(SMN) protein, which has a well characterized function in spliceosomal small nuclear …
(SMN) protein, which has a well characterized function in spliceosomal small nuclear …
Spinal muscular atrophy: the role of SMN in axonal mRNA regulation
Spinal muscular atrophy (SMA) is a neurodegenerative disease caused by homozygous
mutations or deletions in the survival of motor neuron (SMN1) gene, encoding the …
mutations or deletions in the survival of motor neuron (SMN1) gene, encoding the …
The power of human protective modifiers: PLS3 and CORO1C unravel impaired endocytosis in spinal muscular atrophy and rescue SMA phenotype
S Hosseinibarkooie, M Peters, L Torres-Benito… - The American Journal of …, 2016 - cell.com
Homozygous loss of SMN1 causes spinal muscular atrophy (SMA), the most common and
devastating childhood genetic motor-neuron disease. The copy gene SMN2 produces …
devastating childhood genetic motor-neuron disease. The copy gene SMN2 produces …
Therapeutic strategies for spinal muscular atrophy: SMN and beyond
M Bowerman, CG Becker… - Disease models & …, 2017 - journals.biologists.com
Spinal muscular atrophy (SMA) is a devastating neuromuscular disorder characterized by
loss of motor neurons and muscle atrophy, generally presenting in childhood. SMA is …
loss of motor neurons and muscle atrophy, generally presenting in childhood. SMA is …
The actin cytoskeleton in SMA and ALS: how does it contribute to motoneuron degeneration?
N Hensel, P Claus - The Neuroscientist, 2018 - journals.sagepub.com
Amyotrophic lateral sclerosis (ALS) and spinal muscular atrophy (SMA) are
neurodegenerative diseases with overlapping clinical phenotypes based on impaired …
neurodegenerative diseases with overlapping clinical phenotypes based on impaired …
The spinal muscular atrophy disease protein SMN is linked to the Rho-kinase pathway via profilin
Spinal muscular atrophy (SMA), a frequent neurodegenerative disease, is caused by
reduced levels of functional survival of motoneuron (SMN) protein. SMN is involved in …
reduced levels of functional survival of motoneuron (SMN) protein. SMN is involved in …