Results 181 to 190 of about 634,892 (192)

Caenorhabditis elegans in the study of SMN-interacting proteins: a role for SMI-1, an orthologue of human Gemin2 and the identification of novel components of the SMN complex

Invertebrate Neuroscience, 2006
Spinal muscular atrophy is a common neuromuscular disorder caused by mutations in the survival motor neuron (SMN) gene. In mammals, SMN is tightly associated with Gemin2. To gain further insight into the functions of SMN and Gemin2, we have cloned and sequenced smi-1 (Survival of Motor neuron-Interacting protein 1), a C.
Emma Burt, Paula R. Towers, David B. Sattelle   +2 more
semanticscholar   +5 more sources

SMN: understanding a complex protein complex and its role in disease

Clinical Genetics, 1999
Susan E. Andrew
openalex   +2 more sources

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.
P Burlet, Céline Huber, Solange Bertrandy, Marie‐Aline Ludosky, Ingrid Zwaenepoel, Olivier Clermont, J. Roume, A. L. Delezoide, Jean Cartaud, Arnold Münnich, S. Lefebvre   +10 more
openalex   +3 more sources

SMN and the Gemin proteins form sub-complexes that localise to both stationary and dynamic neurite granules

Biochemical and Biophysical Research Communications, 2010
Childhood spinal muscular atrophy (SMA) is caused by a reduction in survival motor neuron (SMN) protein. SMN is expressed in every cell type, but it is predominantly the lower motor neurones of the spinal cord that degenerate in SMA. SMN has been linked to the axonal transport of beta-actin mRNA, a breakdown in which could trigger disease onset.
Adrian G. Todd, Debra J. Shaw, Robert Morse, Howard Stebbings, Philip J. Young   +4 more
openalex   +3 more sources

The exonuclease ISG20 mainly localizes in the nucleolus and the Cajal (Coiled) bodies and is associated with nuclear SMN protein‐containing complexes

Journal of Cellular Biochemistry, 2006
AbstractWe have previously shown that ISG20, an interferon (IFN)‐induced gene, encodes a 3′ to 5′ exoribonuclease member of the DEDD superfamily of exonucleases. ISG20 specifically degrades single‐stranded RNA. In this report, using immunofluorescence analysis, we demonstrate that in addition to a diffuse cytoplasmic and nucleoplasmic localization, the
Lucile Espert, Patrick Eldin, Céline Gongora, Bernard Bayard, Francis Harper, Mounira K. Chelbi‐Alix, Édouard Bertrand, Geneviève Degols, Nadir Mechti   +8 more
openalex   +3 more sources

A role for complexes of survival of motor neurons (SMN) protein with gemins and profilin in neurite-like cytoplasmic extensions of cultured nerve cells

Experimental Cell Research, 2005
Spinal muscular atrophy (SMA) is caused by reduced levels of SMN (survival of motor neurons protein) and consequent loss of motor neurons. SMN is involved in snRNP transport and nuclear RNA splicing, but axonal transport of SMN has also been shown to occur in motor neurons. SMN also binds to the small actin-binding protein, profilin.
Aarti Sharma, Anja Lambrechts, Le Hao, Thanh Le, Caroline A. Sewry, Christophe Ampè, Arthur H.M. Burghes, Glenn E. Morris   +7 more
openalex   +3 more sources

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Proteins that recognize unique features of U7 snRNA and may substitute for Gemin5 in the assembly of U7-specific Sm ring.

RNA: A publication of the RNA Society
U7 snRNA is a 60-nucleotide component of U7 snRNP, a multi-subunit endonuclease that cleaves precursors of metazoan replication-dependent histone mRNAs at the 3' end, hence generating mature histone mRNAs. The Sm site in U7 snRNA differs from the Sm site
Xiao-cui Yang, Z. Dominski
semanticscholar   +1 more source

Essential Role for the SMN Complex in the Specificity of snRNP Assembly

Science, 2002
L. Pellizzoni, J. Yong, G. Dreyfuss
semanticscholar   +1 more source

Molecular Functions of the SMN Complex

Journal of Child Neurology, 2007
S. Kolb, D. Battle, G. Dreyfuss
semanticscholar   +1 more source

Inside the mechanism of SMN-SmD1 protein complex formation: effects of the Spinal Muscular Atrophy – causing E134K mutation. A molecular dynamics simulation study

, 2014
Eugenia Polverini, Valeria Gherardi
openalex   +1 more source