The distribution of SMN protein complex in human fetal tissues and its alteration in spinal muscular atrophy [PDF]
Human Molecular Genetics, 1998 Spinal muscular atrophy (SMA) is a common autosomal recessive neuromuscular disorder characterized by degeneration of motor neurons of the spinal cord and muscular atrophy. SMA is caused by alterations to the survival of motor neuron (SMN) gene, the function of which has hitherto been unclear.
Philippe Burlet +10 more
openaire +3 more sources
Characterization of a gene encoding survival motor neuron (SMN)-related protein, a constituent of the spliceosome complex [PDF]
Human Molecular Genetics, 1998 Mutations in the gene encoding the Survival Motor Neuron (SMN) protein are responsible for autosomal recessive proximal spinal muscular atrophy (SMA). SMN orthologues have been identified in the nematode worm Caenorhabditis elegans and the yeast Schizosaccharomyces pombe but, to date, no human paralogues have been described.
Irene Miguel-Aliaga +4 more
openaire +3 more sources
SMN, the spinal muscular atrophy protein, forms a pre-import snRNP complex with snurportin1 and importin beta [PDF]
Human Molecular Genetics, 2002 The survival of motor neuron (SMN) protein is mutated in patients with spinal muscular atrophy (SMA). SMN is part of a multiprotein complex required for biogenesis of the Sm class of small nuclear ribonucleoproteins (snRNPs). Following assembly of the Sm core domain, snRNPs are transported to the nucleus via importin beta.
Usha Narayanan +4 more
openaire +3 more sources
The Spinal Muscular Atrophy Disease Gene Product, SMN, and Its Associated Protein SIP1 Are in a Complex with Spliceosomal snRNP Proteins [PDF]
Cell, 1997 Spinal muscular atrophy (SMA), one of the most common fatal autosomal recessive diseases, is characterized by degeneration of motor neurons and muscular atrophy. The SMA disease gene, termed Survival of Motor Neurons (SMN), is deleted or mutated in over 98% of SMA patients. The function of the SMN protein is unknown.
Fan Wang +3 more
openaire +3 more sources
Characterization of a nuclear 20S complex containing the survival of motor neurons (SMN) protein and a specific subset of spliceosomal Sm proteins [PDF]
Human Molecular Genetics, 2000 Spinal muscular atrophy (SMA) is a neurodegenerative disease of motor neurons caused by reduced levels of functional survival of motor neurons (SMN) protein. Cytoplasmic SMN directly interacts with spliceosomal Sm proteins and facilitates their assembly onto U snRNAs. Nuclear SMN, in contrast, mediates recycling of pre-mRNA splicing factors.
Monika Zobawa +5 more
openaire +2 more sources
A comprehensive interaction map of the human survival of motor neuron (SMN) complex [PDF]
, 2007 Assembly of the Sm-class of U-rich small nuclear ribonucleoprotein particles (U snRNPs) is a process facilitated by the macromolecular survival of motor neuron (SMN) complex.
Chari, A. +5 more
core +1 more source
Drosophila SMN complex proteins Gemin2, Gemin3, and Gemin5 are components of U bodies
Experimental Cell Research, 2010 Uridine-rich small nuclear ribonucleoproteins (U snRNPs) play key roles in pre-mRNA processing in the nucleus. The assembly of most U snRNPs takes place in the cytoplasm and is facilitated by the survival motor neuron (SMN) complex. Discrete cytoplasmic RNA granules called U bodies have been proposed to be specific sites for snRNP assembly because they
Cauchi, R, Sanchez-Pulido, L, Liu, J
openaire +4 more sources
Toward an Assembly Line for U7 snRNPs [PDF]
Journal of Biological Chemistry, 2005 The survival of motor neurons (SMN) complex mediates the assembly of small nuclear ribonucleoproteins (snRNPs) involved in splicing and histone RNA processing. A crucial step in this process is the binding of Sm proteins onto the SMN protein. For Sm B/B', D1, and D3, efficient binding to SMN depends on symmetrical dimethyl arginine (sDMA) modifications
Azzouz, T. +7 more
openaire +4 more sources
Sporadic amyotrophic lateral sclerosis: is SMN-Gemins protein complex of importance for the relative resistance of oculomotor nucleus motoneurons to degeneration? [PDF]
Folia Neuropathologica, 2018 Lower motoneurons (MNs) show varied vulnerability in amyotrophic lateral sclerosis (ALS): those of non-ocular brainstem nuclei and most of those of the spinal cord are highly vulnerable, while those of extraocular brainstem nuclei are quite resistant. Results of our former study on the immunoexpression of the survival of motor neuron protein (SMN) and ...
Dorota Sulejczak +3 more
openaire +4 more sources
Multiprotein Complexes of the Survival of Motor Neuron Protein SMN with Gemins Traffic to Neuronal Processes and Growth Cones of Motor Neurons [PDF]
The Journal of Neuroscience, 2006 Spinal muscular atrophy (SMA), a progressive neurodegenerative disease affecting motor neurons, is caused by mutations or deletions of theSMN1gene encoding the survival of motor neuron (SMN) protein. In immortalized non-neuronal cell lines, SMN has been shown to form a ribonucleoprotein (RNP) complex with Gemin proteins, which is essential for the ...
Hynek Wichterle +5 more
openaire +3 more sources