Results 21 to 30 of about 634,892 (192)

Gemin4 is an essential gene in mice, and its overexpression in human cells causes relocalization of the SMN complex to the nucleoplasm

Biology Open, 2018
Gemin4 is a member of the Survival Motor Neuron (SMN) protein complex, which is responsible for the assembly and maturation of Sm-class small nuclear ribonucleoproteins (snRNPs).
Ingo D. Meier, Michael P. Walker, A. Gregory Matera   +2 more
doaj   +2 more sources

A spinal muscular atrophy modifier implicates the SMN protein in SNARE complex assembly at neuromuscular synapses [PDF]

Neuron, 2023
Reduced survival motor neuron (SMN) protein triggers the motor neuron disease, spinal muscular atrophy (SMA). Restoring SMN prevents disease, but it is not known how neuromuscular function is preserved. We used model mice to map and identify an Hspa8G470R synaptic chaperone variant, which suppressed SMA.
Jeong-Ki Kim, Narendra Nath Jha, Tomoyuki Awano, Charlotte Caine, Kishore Gollapalli, Emily Welby, Seung-Soo Kim, Andrea Fuentes, Xueyong Wang, Zhihua Feng, Fusako Sera, Taishi Takeda, Shunichi Homma, Chien‐Ping Ko, Lucı́a Tabares, Allison D. Ebert, Mark M. Rich, Umrao R. Monani   +17 more
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Association of galectin-1 and galectin-3 with Gemin4 in complexes containing the SMN protein [PDF]

Nucleic Acids Research, 2001
In previous studies we showed that galectin-1 and galectin-3 are factors required for the splicing of pre-mRNA, as assayed in a cell-free system. Using a yeast two-hybrid screen with galectin-1 as bait, Gemin4 was identified as a putative interacting protein.
Jung W. Park
openalex   +3 more sources

The Gemin5 Protein of the SMN Complex Identifies snRNAs [PDF]

Molecular Cell, 2006
The survival of motor neurons protein (SMN) is part of a large complex that contains six other proteins, Gemins2-7. The SMN complex assembles the heptameric Sm protein core on small nuclear RNAs (snRNAs) and plays a critical role in the biogenesis of snRNPs, the major and essential components of mRNA splicing in eukaryotes.
Daniel J. Battle, Terrence Chi‐Kong Lau, Lili Wan, Hongying Deng, Francesco Lotti, Gideon Dreyfuss   +5 more
openalex   +3 more sources

A role for protein phosphatase PP1γ in SMN complex formation and subnuclear localization to Cajal bodies [PDF]

Journal of Cell Science, 2012
The spinal muscular atrophy (SMA) gene product SMN forms with Gemin2 to 8 and unrip the ubiquitous SMN complex that is required for the assembly of spliceosomal small nuclear ribonucleoproteins (snRNPs), their nuclear import and localization to subnuclear domain Cajal bodies (CBs). The concentration of the SMN complex and snRNPs in CBs are reduced upon
Benoît Renvoisé, Gwendoline Quérol, Éloi R. Verrier, Philippe Burlet, Suzie Lefebvre   +4 more
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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.
Kevin Talbot
openalex   +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
openalex   +3 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 ...
Honglai Zhang, Lei Xing, Wilfried Rossoll, Hynek Wichterle, Robert H. Singer, Gary J. Bassell   +5 more
  +6 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, Stanisław J. Chrapusta, Dorota Dziewulska, J Rafałowska   +3 more
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The Small-Molecule Flunarizine in Spinal Muscular Atrophy Patient Fibroblasts Impacts on the Gemin Components of the SMN Complex and TDP43, an RNA-Binding Protein Relevant to Motor Neuron Diseases

Frontiers in Molecular Biosciences, 2020
The motor neurodegenerative disease spinal muscular atrophy (SMA) is caused by alterations of the survival motor neuron 1 (SMN1) gene involved in RNA metabolism. Although the disease mechanisms are not completely elucidated, SMN protein deficiency leads to abnormal small nuclear ribonucleoproteins (snRNPs) assembly responsible for widespread splicing ...
Delphine Sapaly, Perrine Delers, Jennifer Coridon, Badih Salman, Franck Letourneur, Florent Dumont, Suzie Lefebvre   +6 more
openalex   +4 more sources