Perspectives and diagnostic considerations in spinal muscular atrophy

Prior, Thomas W.

doi:10.1097/gim.0b013e3181c5e713

Cited by 47 publications

(30 citation statements)

References 64 publications

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“…For example, TDP-43 (LiuYesucevitz et al 2010;McDonald et al 2011) and FUS (Baron et al 2013) have both been found in SGs. These structures form in response to cellular stress as a means to temporarily halt translation of mRNAs not needed to respond to the situation at hand and thus can be viewed as temporary RNA storage sites.…”

Section: Rbps and Membraneless Organellesmentioning

confidence: 99%

“…These include the QGSYrich and RGG-rich domains of FUS and the Gly-rich and Q/N-rich domains of TDP-43, which have been shown to be important for SG formation ( Fig. 2; Liu-Yesucevitz et al 2010;Bentmann et al 2012). The natural conformational heterogeneity of these domains permits them to make diverse combinations of charge-charge, dipole, and π-stacking interactions along the polypeptide backbone over short and long ranges.…”

Section: Rbps and Membraneless Organellesmentioning

confidence: 99%

“…In its most extreme form, it is the most common monogenic cause of infant mortality (Prior 2010). The disease is caused by homozygous loss-of-function (LOF) mutations in the gene SMN1, which, together with the nearly identical SMN2 gene (unique to humans), encodes the protein survival of MN (SMN), a protein chaperone for spliceosomal factor biogenesis (Pellizzoni 2007;So et al 2016).…”

Section: Spinal Muscular Atrophy (Sma)mentioning

confidence: 99%

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RNA-binding proteins in neurodegeneration: mechanisms in aggregate

2017

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Neurodegeneration is a leading cause of death in the developed world and a natural, albeit unfortunate, consequence of longer-lived populations. Despite great demand for therapeutic intervention, it is often the case that these diseases are insufficiently understood at the basic molecular level. What little is known has prompted much hopeful speculation about a generalized mechanistic thread that ties these disparate conditions together at the subcellular level and can be exploited for broad curative benefit. In this review, we discuss a prominent theory supported by genetic and pathological changes in an array of neurodegenerative diseases: that neurons are particularly vulnerable to disruption of RNA-binding protein dosage and dynamics. Here we synthesize the progress made at the clinical, genetic, and biophysical levels and conclude that this perspective offers the most parsimonious explanation for these mysterious diseases. Where appropriate, we highlight the reciprocal benefits of cross-disciplinary collaboration between disease specialists and RNA biologists as we envision a future in which neurodegeneration declines and our understanding of the broad importance of RNA processing deepens.

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Section: Rbps and Membraneless Organellesmentioning

confidence: 99%

Section: Rbps and Membraneless Organellesmentioning

confidence: 99%

Section: Spinal Muscular Atrophy (Sma)mentioning

confidence: 99%

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RNA-binding proteins in neurodegeneration: mechanisms in aggregate

2017

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“…Spinal muscular atrophy (SMA) is an autosomal recessive neurodegenerative disease characterized by the degeneration of spinal cord motor neurons, atrophy of skeletal muscles, and generalized weakness [1]. The use of central neuraxial blockade in patients with neurodegenerative disease and preexisting neurological disorders is still controversial (theoretical risks of worsening of neurological symptoms following regional anesthesia).…”

mentioning

confidence: 99%

“…SMA is an autosomal recessive neuromuscular disorder characterized by muscle weakness and atrophy due to degeneration of motor neurons of the spinal cord and cranial motor nuclei [1]. The SMA disease is caused by homozygous disruption of the survival motor neuron 1 (SMN1) gene by deletion, conversion or mutation and results in insufficient levels of SMN protein in motor neurons [2].…”

mentioning

confidence: 99%

Combined spinal epidural anesthesia for cesarean section in a parturient with spinal muscle atrophy type III (Kugelberg–Walendar disease)

Gaca¹,

Kokot²,

Koziołek³

et al. 2010

The Journal of Maternal-Fetal & Neonatal Medicine

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Induced pluripotent stem cells for modeling of pediatric neurological disorders

Jang

Quan

Yum

et al. 2014

Biotechnology Journal

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The pathophysiological mechanisms underlying childhood neurological disorders have remained obscure due to a lack of suitable disease models reflecting human pathogenesis. Using induced pluripotent stem cell (iPSC) technology, various neurological disorders can now be extensively modeled. Specifically, iPSC technology has aided the study and treatment of early-onset pediatric neurodegenerative diseases such as Rett syndrome, Down syndrome, Angelman syndrome. Prader-Willi syndrome, Friedreich's ataxia, spinal muscular atrophy (SMA), fragile X syndrome, X-linked adrenoleukodystrophy (ALD), and SCN1A gene-related epilepsies. In this paper, we provide an overview of various gene delivery systems for generating iPSCs, the current state of modeling early-onset neurological disorders and the ultimate application of these in vitro models in cell therapy through the correction of disease-specific mutations.

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Perspectives and diagnostic considerations in spinal muscular atrophy

Cited by 47 publications

References 64 publications

RNA-binding proteins in neurodegeneration: mechanisms in aggregate

RNA-binding proteins in neurodegeneration: mechanisms in aggregate

Combined spinal epidural anesthesia for cesarean section in a parturient with spinal muscle atrophy type III (Kugelberg–Walendar disease)

Induced pluripotent stem cells for modeling of pediatric neurological disorders

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