Cargando…

Spinal Muscular Atrophy: From Defective Chaperoning of snRNP Assembly to Neuromuscular Dysfunction

Spinal Muscular Atrophy (SMA) is a neuromuscular disorder that results from decreased levels of the survival motor neuron (SMN) protein. SMN is part of a multiprotein complex that also includes Gemins 2–8 and Unrip. The SMN-Gemins complex cooperates with the protein arginine methyltransferase 5 (PRM...

Descripción completa

Detalles Bibliográficos
Autores principales:	Lanfranco, Maia, Vassallo, Neville, Cauchi, Ruben J.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2017
Materias:	Molecular Biosciences
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5463183/ https://www.ncbi.nlm.nih.gov/pubmed/28642865 http://dx.doi.org/10.3389/fmolb.2017.00041

Ejemplares similares

Phylogenetic Comparison and Splicing Analysis of the U1 snRNP-specific Protein U1C in Eukaryotes
por: Zhang, Kai-Lu, et al.
Publicado: (2021)

The Hunting of the snRNP
por: Leslie, Mitch
Publicado: (2006)

HMGA1a Induces Alternative Splicing of the Estrogen Receptor-αlpha Gene by Trapping U1 snRNP to an Upstream Pseudo-5′ Splice Site
por: Ohe, Kenji, et al.
Publicado: (2018)

Structure of the spliceosomal U4 snRNP core domain and its implication for snRNP biogenesis
por: Leung, Adelaine K. W., et al.
Publicado: (2011)

TSSC4 is a component of U5 snRNP that promotes tri-snRNP formation
por: Klimešová, Klára, et al.
Publicado: (2021)

SMN controls neuromuscular junction integrity through U7 snRNP
por: Tisdale, Sarah, et al.
Publicado: (2022)

Intranuclear localization of snRNP antigens
Publicado: (1986)

Transcriptional co-activator protein p100 interacts with snRNP proteins and facilitates the assembly of the spliceosome
por: Yang, Jie, et al.
Publicado: (2007)

Spatial regulation of cytoplasmic snRNP assembly at the cellular level
por: Hyjek, Malwina, et al.
Publicado: (2015)

Linkage and Allostery in snRNP Protein/RNA Complexes
por: Williams, Sandra G., et al.
Publicado: (2014)

Reconstitution of a functional 7SK snRNP
por: Brogie, John E., et al.
Publicado: (2017)

An alternative D. melanogaster 7SK snRNP
por: Nguyen, Duy, et al.
Publicado: (2021)

Assembly of the U5 snRNP component PRPF8 is controlled by the HSP90/R2TP chaperones
por: Malinová, Anna, et al.
Publicado: (2017)

Proteomic analysis of the U1 snRNP of Schizosaccharomyces pombe reveals three essential organism-specific proteins
por: Newo, Alain N. S., et al.
Publicado: (2007)

LARP7 is a stable component of the 7SK snRNP while P-TEFb, HEXIM1 and hnRNP A1 are reversibly associated
por: Krueger, Brian J., et al.
Publicado: (2008)

Structural insights into Gemin5-guided selection of pre-snRNAs for snRNP assembly
por: Xu, Chao, et al.
Publicado: (2016)

The SMN complex drives structural changes in human snRNAs to enable snRNP assembly
por: Pánek, Josef, et al.
Publicado: (2023)

The Role of the U5 snRNP in Genetic Disorders and Cancer
por: Wood, Katherine A., et al.
Publicado: (2021)

Transcriptomic comparison of Drosophila snRNP biogenesis mutants reveals mutant-specific changes in pre-mRNA processing: implications for spinal muscular atrophy
por: Garcia, Eric L., et al.
Publicado: (2016)

U1 snRNP is mislocalized in ALS patient fibroblasts bearing NLS mutations in FUS and is required for motor neuron outgrowth in zebrafish
por: Yu, Yong, et al.
Publicado: (2015)

Assembly and localization of the U1-specific snRNP C protein in the amphibian oocyte
Publicado: (1992)

Detection of snRNP assembly intermediates in Cajal bodies by fluorescence resonance energy transfer
por: Staněk, David, et al.
Publicado: (2004)

Mechanism of assembly of snRNP cores assisted by ICln and the SMN complex in fission yeast
por: Hu, Yan, et al.
Publicado: (2023)

U2 snRNP Is Required for Expression of the 3′ End of Genes
por: Koga, Mitsunori, et al.
Publicado: (2014)

Promoter directionality is controlled by U1 snRNP and polyadenylation signals
por: Almada, Albert E., et al.
Publicado: (2013)

Interaction of 7SK with the Smn complex modulates snRNP production
por: Ji, Changhe, et al.
Publicado: (2021)

Structural Context of a Critical Exon of Spinal Muscular Atrophy Gene
por: Singh, Natalia N., et al.
Publicado: (2022)

A U1 snRNP-Specific Assembly Pathway Reveals the SMN Complex as a Versatile RNP Exchange
por: So, Byung Ran, et al.
Publicado: (2016)

Editorial: Pathologic Conditions of the Human Nervous and Muscular Systems Associated with Mutant Chaperones: Molecular and Mechanistic Aspects
por: Macario, Alberto J. L., et al.
Publicado: (2018)

Assembly and dynamics of the U4/U6 di-snRNP by single-molecule FRET
por: Hardin, John W., et al.
Publicado: (2015)

A 10S galectin-3–U1 snRNP complex assembles into active spliceosomes
por: Haudek, Kevin C., et al.
Publicado: (2016)

Allosteric regulation of U1 snRNP by splicing regulatory proteins controls spliceosomal assembly
por: Shenasa, Hossein, et al.
Publicado: (2020)

Editorial: The Role of Protein Post-Translational Modifications in Protein-RNA Interactions and RNP Assemblies
por: Giambruno, Roberto, et al.
Publicado: (2022)

Nuclear exchange of the U1 and U2 snRNP-specific proteins
Publicado: (1990)

Role of Cajal Bodies and Nucleolus in the Maturation of the U1 snRNP in Arabidopsis
por: Lorković, Zdravko J., et al.
Publicado: (2008)

RNA-mediated displacement of an inhibitory snRNP complex activates transcription elongation
por: D’Orso, Iván, et al.
Publicado: (2010)

The Drosophila 7SK snRNP and the essential role of dHEXIM in development
por: Nguyen, Duy, et al.
Publicado: (2012)

Core structure of the U6 snRNP at 1.7 Å resolution
por: Montemayor, Eric J., et al.
Publicado: (2014)

Re-refinement of the spliceosomal U4 snRNP core-domain structure
por: Li, Jade, et al.
Publicado: (2016)

Plant snRNP Biogenesis: A Perspective from the Nucleolus and Cajal Bodies
por: Ohtani, Misato
Publicado: (2018)

Cannot write session to /tmp/vufind_sessions/sess_a65bst13t4394d2ee17jf0665e