Spinal muscular atrophy

MR Lunn, CH Wang - The Lancet, 2008 - thelancet.com
Spinal muscular atrophy is an autosomal recessive neurodegenerative disease
characterised by degeneration of spinal cord motor neurons, atrophy of skeletal muscles …

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 …

Identifying specific protein interaction partners using quantitative mass spectrometry and bead proteomes

L Trinkle-Mulcahy, S Boulon, YW Lam, R Urcia… - The Journal of cell …, 2008 - rupress.org
The identification of interaction partners in protein complexes is a major goal in cell biology.
Here we present a reliable affinity purification strategy to identify specific interactors that …

The role of RNA binding proteins for local mRNA translation: implications in neurological disorders

MP Thelen, MJ Kye - Frontiers in molecular biosciences, 2020 - frontiersin.org
As neurons are one of the most highly polarized cells in our body, they require sophisticated
cellular mechanisms to maintain protein homeostasis in their subcellular compartments such …

Regulation of SMN protein stability

BG Burnett, E Munoz, A Tandon, DY Kwon… - … and cellular biology, 2009 - Am Soc Microbiol
Spinal muscular atrophy (SMA) is caused by mutations of the survival of motor neuron
(SMN1) gene and deficiency of full-length SMN protein (FL-SMN). All SMA patients retain …

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 …

Spinal muscular atrophy: the role of SMN in axonal mRNA regulation

C Fallini, GJ Bassell, W Rossoll - Brain research, 2012 - Elsevier
Spinal muscular atrophy (SMA) is a neurodegenerative disease caused by homozygous
mutations or deletions in the survival of motor neuron (SMN1) gene, encoding the …

The SMN complex drives structural changes in human snRNAs to enable snRNP assembly

J Pánek, A Roithová, N Radivojević, M Sýkora… - Nature …, 2023 - nature.com
Spliceosomal snRNPs are multicomponent particles that undergo a complex maturation
pathway. Human Sm-class snRNAs are generated as 3′-end extended precursors, which …

[HTML][HTML] The cajal body

GE Morris - Biochimica et Biophysica Acta (BBA)-Molecular Cell …, 2008 - Elsevier
The Cajal body, originally identified over 100 years ago as a nucleolar accessory body in
neurons, has come to be identified with nucleoplasmic structures, often quite tiny, that …

HuD interacts with survival motor neuron protein and can rescue spinal muscular atrophy-like neuronal defects

L Hubers, H Valderrama-Carvajal… - Human molecular …, 2011 - academic.oup.com
Spinal muscular atrophy is an autosomal-recessive neuromuscular disease caused by
disruption of the survival of motor neuron (SMN) gene, which promotes cytoplasmic …