Cargando…

A Single Amino Acid Residue Regulates PTEN-Binding and Stability of the Spinal Muscular Atrophy Protein SMN

Spinal Muscular Atrophy (SMA) is a neuromuscular disease caused by decreased levels of the survival of motoneuron (SMN) protein. Post-translational mechanisms for regulation of its stability are still elusive. Thus, we aimed to identify regulatory phosphorylation sites that modulate function and sta...

Descripción completa

Detalles Bibliográficos
Autores principales:	Rademacher, Sebastian, Detering, Nora T., Schüning, Tobias, Lindner, Robert, Santonicola, Pamela, Wefel, Inga-Maria, Dehus, Janina, Walter, Lisa M., Brinkmann, Hella, Niewienda, Agathe, Janek, Katharina, Varela, Miguel A., Bowerman, Melissa, Di Schiavi, Elia, Claus, Peter
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2020
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7692393/ https://www.ncbi.nlm.nih.gov/pubmed/33153033 http://dx.doi.org/10.3390/cells9112405

Ejemplares similares

Therapeutic strategies for spinal muscular atrophy: SMN and beyond
por: Bowerman, Melissa, et al.
Publicado: (2017)

Key role of SMN/SYNCRIP and RNA-Motif 7 in spinal muscular atrophy: RNA-Seq and motif analysis of human motor neurons
por: Rizzo, Federica, et al.
Publicado: (2019)

Molecular Crosstalk Between Non-SMN-Related and SMN-Related Spinal Muscular Atrophy
por: Šoltić, Darija, et al.
Publicado: (2020)

Targeting the 5′ untranslated region of SMN2 as a therapeutic strategy for spinal muscular atrophy
por: Winkelsas, Audrey M., et al.
Publicado: (2021)

SMN post-translational modifications in spinal muscular atrophy
por: Riboldi, Giulietta M., et al.
Publicado: (2023)

CORRIGENDUM to Molecular Crosstalk Between Non-SMN-Related and SMN-Related Spinal Muscular Atrophy
Publicado: (2020)

The Need for SMN-Independent Treatments of Spinal Muscular Atrophy (SMA) to Complement SMN-Enhancing Drugs
por: Hensel, Niko, et al.
Publicado: (2020)

Defects in pancreatic development and glucose metabolism in SMN-depleted mice independent of canonical spinal muscular atrophy neuromuscular pathology
por: Bowerman, Melissa, et al.
Publicado: (2014)

AAV9-mediated SMN gene therapy rescues cardiac desmin but not lamin A/C and elastin dysregulation in Smn(2B/−) spinal muscular atrophy mice
por: Brown, Sharon J, et al.
Publicado: (2023)

Therapy Development for Spinal Muscular Atrophy in SMN Independent Targets
por: Tsai, Li-Kai
Publicado: (2012)

SMN-primed ribosomes modulate the translation of transcripts related to Spinal Muscular Atrophy
por: Lauria, Fabio, et al.
Publicado: (2020)

Lysine-Less Variants of Spinal Muscular Atrophy SMN and SMNΔ7 Proteins Are Degraded by the Proteasome Pathway
por: Sánchez-Lanzas, Raúl, et al.
Publicado: (2017)

SMN1 dosage analysis in spinal muscular atrophy from India
por: Kesari, Akanchha, et al.
Publicado: (2005)

Modeling spinal muscular atrophy in Drosophila links Smn to FGF signaling
por: Sen, Anindya, et al.
Publicado: (2011)

Deletion of SMN and NAIP genes in Korean patients with spinal muscular atrophy.
por: Shin, S., et al.
Publicado: (2000)

The Spinal Muscular Atrophy Disease Protein SMN Is Linked to the Golgi Network
por: Ting, Chen-Hung, et al.
Publicado: (2012)

25 years of the SMN genes: the Copernican revolution of spinal muscular atrophy
por: Tiziano, Francesco Danilo, et al.
Publicado: (2020)

SMN deficiency perturbs monoamine neurotransmitter metabolism in spinal muscular atrophy
por: Valsecchi, Valeria, et al.
Publicado: (2023)

Clinical and genetic diversity of SMN1-negative proximal spinal muscular atrophies
por: Peeters, Kristien, et al.
Publicado: (2014)

Deletion analysis of SMN and NAIP genes in Tunisian patients with spinal muscular atrophy
por: Rekik, Imen, et al.
Publicado: (2013)

Targeting SR Proteins Improves SMN Expression in Spinal Muscular Atrophy Cells
por: Wee, Claribel D., et al.
Publicado: (2014)

Intragenic and structural variation in the SMN locus and clinical variability in spinal muscular atrophy
por: Wadman, Renske I, et al.
Publicado: (2020)

The Importance of Digging into the Genetics of SMN Genes in the Therapeutic Scenario of Spinal Muscular Atrophy
por: Costa-Roger, Mar, et al.
Publicado: (2021)

Restoring SMN Expression: An Overview of the Therapeutic Developments for the Treatment of Spinal Muscular Atrophy
por: Aslesh, Tejal, et al.
Publicado: (2022)

NSC Physiological Features in Spinal Muscular Atrophy: SMN Deficiency Effects on Neurogenesis
por: Adami, Raffaella, et al.
Publicado: (2022)

Molecular characterization and copy number of SMN1, SMN2 and NAIP in Chinese patients with spinal muscular atrophy and unrelated healthy controls
por: Fang, Ping, et al.
Publicado: (2015)

Genomic Variability in the Survival Motor Neuron Genes (SMN1 and SMN2): Implications for Spinal Muscular Atrophy Phenotype and Therapeutics Development
por: Butchbach, Matthew E. R.
Publicado: (2021)

Dataset of cocoa aspartic protease cleavage sites
por: Janek, Katharina, et al.
Publicado: (2016)

SMN1 and SMN2 copy numbers in cell lines derived from patients with spinal muscular atrophy as measured by array digital PCR
por: Stabley, Deborah L, et al.
Publicado: (2015)

Comprehensive SMN1 and SMN2 profiling for spinal muscular atrophy analysis using long-read PacBio HiFi sequencing
por: Chen, Xiao, et al.
Publicado: (2023)

SAM68 is a physiological regulator of SMN2 splicing in spinal muscular atrophy
por: Pagliarini, Vittoria, et al.
Publicado: (2015)

Targeting RNA structure in SMN2 reverses spinal muscular atrophy molecular phenotypes
por: Garcia-Lopez, Amparo, et al.
Publicado: (2018)

Stability and Oligomerization of Mutated SMN Protein Determine Clinical Severity of Spinal Muscular Atrophy
por: Niba, Emma Tabe Eko, et al.
Publicado: (2022)

Motor unit recovery following Smn restoration in mouse models of spinal muscular atrophy
por: Comley, Laura H, et al.
Publicado: (2022)

A feedback loop regulates splicing of the spinal muscular atrophy-modifying gene, SMN2
por: Jodelka, Francine M., et al.
Publicado: (2010)

The Smn-Independent Beneficial Effects of Trichostatin A on an Intermediate Mouse Model of Spinal Muscular Atrophy
por: Liu, Hong, et al.
Publicado: (2014)

Biomarker for Spinal Muscular Atrophy: Expression of SMN in Peripheral Blood of SMA Patients and Healthy Controls
por: Czech, Christian, et al.
Publicado: (2015)

Genotype-Phenotype Correlation of SMN1 and NAIP Deletions in Korean Patients with Spinal Muscular Atrophy
por: Ahn, Eun-Ji, et al.
Publicado: (2017)

Temporal and tissue-specific variability of SMN protein levels in mouse models of spinal muscular atrophy
por: Groen, Ewout J N, et al.
Publicado: (2018)

Neurochondrin interacts with the SMN protein suggesting a novel mechanism for spinal muscular atrophy pathology
por: Thompson, Luke W., et al.
Publicado: (2018)

Cannot write session to /tmp/vufind_sessions/sess_8peac9valuvaajihr0ams7ki1r