Results 221 to 230 of about 55,907 (261)

SMN genotypes producing less SMN protein increase susceptibility to and severity of sporadic ALS

Neurology, 2005
ALS is believed to be multifactorial in origin with modifying genes affecting its clinical expression. Childhood-onset spinal muscular atrophy (SMA) is an autosomal recessive disorder of motor neurons, caused by mutations of the survival motor neuron (SMN) gene. The SMN gene exists in two highly homologous variants: SMN1, the causative gene responsible
Veldink, J.H., Kalmijn, S., Hout, A.H. van der, Lemmink, H.H., Groeneveld, G.J., Lummen, C., Scheffer, H., Wokke, J.H.J., Berg, L.H. van den   +8 more
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Molecular Functions of the SMN Complex

Journal of Child Neurology, 2007
The SMN complex is essential for the biogenesis of spliceosomal small nuclear ribonucleoproteins and likely functions in the assembly, metabolism, and transport of a diverse number of other ribonucleoproteins. Specifically, the SMN complex assembles 7 Sm proteins into a core structure around a highly conserved sequence of ribonucleic acid (RNA) found ...
Stephen J, Kolb, Daniel J, Battle, Gideon, Dreyfuss   +2 more
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Regulation of murine survival motor neuron (Smn) protein levels by modifying Smn exon 7 splicing

Human Molecular Genetics, 2001
Proximal spinal muscular atrophy (SMA) is caused by mutations in the survival motor neuron gene (SMN1). In humans, two nearly identical copies of SMN exist and differ only by a single non-polymorphic C-->T nucleotide transition in exon 7. SMN1 contains a 'C' nucleotide at the +6 position of exon 7 and produces primarily full-length SMN transcripts ...
C J, DiDonato, C L, Lorson, Y, De Repentigny, L, Simard, C, Chartrand, E J, Androphy, R, Kothary   +6 more
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Rpp20 interacts with SMN and is re-distributed into SMN granules in response to stress

Biochemical and Biophysical Research Communications, 2004
Spinal muscular atrophy (SMA) is a neurodegenerative disorder resulting from homozygous loss of the SMN1 gene. To investigate SMN functions, we undertook the yeast two-hybrid screens and identified Drosophila Rpp20, a subunit of the RNase P and RNase MRP holoenzymes, to interact with the Drosophila SMN protein.
Yimin, Hua, Jianhua, Zhou
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Analysis of SMN-neurite granules: Core Cajal body components are absent from SMN-cytoplasmic complexes

Biochemical and Biophysical Research Communications, 2010
Childhood spinal muscular atrophy (SMA) is caused by a reduction in survival motor neuron (SMN) protein. SMN is a ubiquitously expressed house keeping protein that is involved in RNA production and processing. However, although SMN is expressed in every cell type, only the lower motor neurons of the spinal cord are degraded in SMA.
Adrian G, Todd, Robert, Morse, Debra J, Shaw, Howard, Stebbings, Philip J, Young   +4 more
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???????????????????? ???????????? ?????????? SMN ???? NAIP ?? ?????????????????? ?? ?????????????? ???????????? ???????????????????? ????????????????? ?????????????? ???? ?????????????????? ?????????????? ??????????????

2021
?????????????????? ???????????????????? ???????????????????????? ?????????????? 7-???? ?? 8-???? ?????????????? ???????? SMN ?? 5-???? ???????????? ???????? NAIP ?? ?????????????????? ?? ??,????, ?????? ???????????? ?????? ???? ?????????????????? ?????????????? ??????????????. ???????????????????? ???????????????????????? ????????????????, ?????? ??????
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Dakosaurus maximus SMNS

Published as part of Scavezzoni, Isaure, Fischer, Valentin, Johnson, Michela M. & Jouve, Stéphane, 2024, Form and function of the pelvic girdle of Thalattosuchia and Dyrosauridae (Crocodyliformes), pp. 135-326 in Geodiversitas 46 (6) on pages 196-202, DOI: 10.5252/geodiversitas2024v46a6, http://zenodo.org/record ...
Scavezzoni, Isaure, Fischer, Valentin, Johnson, Michela M., Jouve, Stéphane   +3 more
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The SMN complex, an assemblyosome of ribonucleoproteins

Current Opinion in Cell Biology, 2002
Spinal muscular atrophy is a common, often lethal, neurodegenerative disease that results from low levels of, or loss-of-function mutations in, the SMN (survival of motor neurons) protein. SMN oligomerizes and forms a stable complex with five additional proteins: Gemins 2-6. SMN also interacts with several additional proteins referred to as "substrates"
Paushkin, Sergey, Gubitz, Amélie, Massenet, Séverine, Dreyfuss, Gideon   +3 more
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SMN-Q42 Modell

We present the SMN-Q42 model as a structural framework that organizes solar-terrestrial energy relationships through discrete mathematical patterns. Built upon the parameter-free Simplicity Theory, the model identifies structural scales $\Ecore = 246 = 200 + 40 + 6$ and $\Delta = 133 = 100 + 30 + 3$ that serve as organizing principles rather than new ...
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SMN linked to SNARE complex assembly

Nature Reviews Neuroscience, 2023
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