A single amino acid residue regulates PTEN-binding and stability of the spinal muscular atrophy protein SMN

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...

Πλήρης περιγραφή

Λεπτομέρειες βιβλιογραφικής εγγραφής
Κύριοι συγγραφείς:	Rademacher, S, Detering, NT, Schüning, T, Lindner, R, Santonicola, P, Wefel, I-M, Dehus, J, Walter, LM, Brinkmann, H, Niewienda, A, Janek, K, Varela, MA, Bowerman, M, Di Schiavi, E, Claus, P
Μορφή:	Journal article
Γλώσσα:	English
Έκδοση:	MDPI 2020

Παρόμοια τεκμήρια

A Single Amino Acid Residue Regulates PTEN-Binding and Stability of the Spinal Muscular Atrophy Protein SMN
ανά: Sebastian Rademacher, κ.ά.
Έκδοση: (2020-11-01)

What could be the function of the spinal muscular atrophy-causing protein SMN in macrophages?
ανά: Ines Tapken, κ.ά.
Έκδοση: (2024-05-01)

Therapeutic strategies for spinal muscular atrophy: SMN and beyond
ανά: Bowerman, M, κ.ά.
Έκδοση: (2017)

Therapeutic strategies for spinal muscular atrophy: SMN and beyond
ανά: Bowerman, M, κ.ά.
Έκδοση: (2017)

Therapeutic strategies for spinal muscular atrophy: SMN and beyond
ανά: Melissa Bowerman, κ.ά.
Έκδοση: (2017-08-01)

The Need for SMN-Independent Treatments of Spinal Muscular Atrophy (SMA) to Complement SMN-Enhancing Drugs
ανά: Niko Hensel, κ.ά.
Έκδοση: (2020-02-01)

Spinal muscular atrophy in Venezuela: quantitative analysis of SMN1 and SMN2 genes
ανά: Yuri Yépez, κ.ά.
Έκδοση: (2020-06-01)

Molecular Crosstalk Between Non-SMN-Related and SMN-Related Spinal Muscular Atrophy
ανά: Darija Šoltić, κ.ά.
Έκδοση: (2020-03-01)

SMN post-translational modifications in spinal muscular atrophy
ανά: Giulietta M. Riboldi, κ.ά.
Έκδοση: (2023-02-01)

CORRIGENDUM to Molecular Crosstalk Between Non-SMN-Related and SMN-Related Spinal Muscular Atrophy
Έκδοση: (2020-04-01)

Targeting the 5' untranslated region of SMN2 as a therapeutic strategy for spinal muscular atrophy
ανά: Winkelsas, AM, κ.ά.
Έκδοση: (2021)

Therapy Development for Spinal Muscular Atrophy in SMN Independent Targets
ανά: Li-Kai Tsai
Έκδοση: (2012-01-01)

Targeting the 5′ untranslated region of SMN2 as a therapeutic strategy for spinal muscular atrophy
ανά: Audrey M. Winkelsas, κ.ά.
Έκδοση: (2021-03-01)

Quantitative and structural features of the SMN1 and SMN2 genes in patients with spinal muscular atrophy 5q
ανά: A. I. Vlasenko, κ.ά.
Έκδοση: (2024-12-01)

SMN deficiency perturbs monoamine neurotransmitter metabolism in spinal muscular atrophy
ανά: Valeria Valsecchi, κ.ά.
Έκδοση: (2023-11-01)

The spinal muscular atrophy disease protein SMN is linked to the Golgi network.
ανά: Chen-Hung Ting, κ.ά.
Έκδοση: (2012-01-01)

Restoring SMN Expression: An Overview of the Therapeutic Developments for the Treatment of Spinal Muscular Atrophy
ανά: Tejal Aslesh, κ.ά.
Έκδοση: (2022-01-01)

Molecular and Epidemiological Characterization of SMN Genes in Cuban Patients with Spinal Muscular Atrophy
ανά: Fabián Lombillo-Alfonso, κ.ά.
Έκδοση: (2020-01-01)

Molecular And Epidemiological Characterization Of SMN Genes In Cuban Patients With Spinal Muscular Atrophy
ανά: Fabián Lombillo, κ.ά.
Έκδοση: (2019-05-01)

Targeting SR proteins improves SMN expression in spinal muscular atrophy cells.
ανά: Claribel D Wee, κ.ά.
Έκδοση: (2014-01-01)

Stability and Oligomerization of Mutated SMN Protein Determine Clinical Severity of Spinal Muscular Atrophy
ανά: Niba, Emma Tabe Eko, κ.ά.
Έκδοση: (2022)

Stability and Oligomerization of Mutated SMN Protein Determine Clinical Severity of Spinal Muscular Atrophy
ανά: Niba, Emma Tabe Eko, κ.ά.
Έκδοση: (2022)

P719: SMN1 deletion and silent carrier screening for spinal muscular atrophy
ανά: Poh San Lai, κ.ά.
Έκδοση: (2024-01-01)

Abnormal motor phenotype in the SMNΔ7 mouse model of spinal muscular atrophy
ανά: Matthew E.R. Butchbach, κ.ά.
Έκδοση: (2007-08-01)

The neuromuscular impact of symptomatic SMN restoration in a mouse model of spinal muscular atrophy
ανά: W. Arnold, κ.ά.
Έκδοση: (2016-03-01)

Investigation of a recombinant SMN protein delivery system to treat spinal muscular atrophy
ανά: Anderton Ryan, κ.ά.
Έκδοση: (2014-03-01)

Targeting RNA structure in SMN2 reverses spinal muscular atrophy molecular phenotypes
ανά: Amparo Garcia-Lopez, κ.ά.
Έκδοση: (2018-05-01)

P423: SMN1 SMN2 gene-specific sequencing enhances the clinical sensitivity of spinal muscular atrophy diagnostic testing
ανά: Matthew Avenarius, κ.ά.
Έκδοση: (2023-01-01)

SMN deficiency disrupts brain development in a mouse model of severe spinal muscular atrophy.
ανά: Wishart, T, κ.ά.
Έκδοση: (2010)

Targeting the 5' untranslated region of SMN2 as a therapeutic strategy for spinal muscular atrophy
ανά: Winkelsas, AM
Έκδοση: (2020)

Hepatocyte-intrinsic SMN deficiency drives metabolic dysfunction and liver steatosis in spinal muscular atrophy
ανά: Leow, Damien Meng-Kiat, κ.ά.
Έκδοση: (2024)

Patient-specific responses to SMN2 splice-modifying treatments in spinal muscular atrophy fibroblasts
ανά: Ilaria Signoria, κ.ά.
Έκδοση: (2024-12-01)

Biomarker for Spinal Muscular Atrophy: Expression of SMN in Peripheral Blood of SMA Patients and Healthy Controls.
ανά: Christian Czech, κ.ά.
Έκδοση: (2015-01-01)

Analysis of the survival of motor neuron (SMN1) gene mutations in Spinal Muscular Atrophy through models
ανά: Owen, N, κ.ά.
Έκδοση: (2002)

Characteristics of genetic changes in the <i>SMN1</i> gene in spinal muscular atrophy 5q
ανά: A. V. Dil, κ.ά.
Έκδοση: (2022-09-01)

Recombinant SMN protein synergizes with spinal muscular atrophy therapy to counteract pathological motor neuron phenotypes
ανά: Liliana Brambilla, κ.ά.
Έκδοση: (2024-12-01)

Depletion of SMN protein in mesenchymal progenitors impairs the development of bone and neuromuscular junction in spinal muscular atrophy
ανά: Sang-Hyeon Hann, κ.ά.
Έκδοση: (2024-02-01)

Systems biology investigation of cAMP modulation to increase SMN levels for the treatment of spinal muscular atrophy.
ανά: Sean G Mack, κ.ά.
Έκδοση: (2014-01-01)

In Vivo Translatome Profiling in Spinal Muscular Atrophy Reveals a Role for SMN Protein in Ribosome Biology
ανά: Paola Bernabò, κ.ά.
Έκδοση: (2017-10-01)

SMN1 and NAIP Genes Deletions in Different Types of Spinal Muscular Atrophy in Khuzestan Province, Iran
ανά: Gholamreza Mohamadian, κ.ά.
Έκδοση: (2011-12-01)