Cargando…

SMN Deficiency Destabilizes ABCA1 Expression in Human Fibroblasts: Novel Insights in Pathophysiology of Spinal Muscular Atrophy

The deficiency of survival motor neuron protein (SMN) causes spinal muscular atrophy (SMA), a rare neuromuscular disease that affects different organs. SMN is a key player in RNA metabolism regulation. An intriguing aspect of SMN function is its relationship with plasma membrane-associated proteins....

Descripción completa

Detalles Bibliográficos
Autores principales:	Gabanella, Francesca, Onori, Annalisa, Pisani, Cinzia, Fiore, Marco, Ferraguti, Giampiero, Colizza, Andrea, de Vincentiis, Marco, Ceccanti, Marco, Inghilleri, Maurizio, Corbi, Nicoletta, Passananti, Claudio, Di Certo, Maria Grazia
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2023
Materias:	Communication
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9917534/ https://www.ncbi.nlm.nih.gov/pubmed/36769246 http://dx.doi.org/10.3390/ijms24032916

Ejemplares similares

The RNA-Binding Protein SMN as a Novel Player in Laryngeal Squamous Cell Carcinoma
por: Gabanella, Francesca, et al.
Publicado: (2023)

Fine-Tuning of mTOR mRNA and Nucleolin Complexes by SMN
por: Gabanella, Francesca, et al.
Publicado: (2021)

SMN protein promotes membrane compartmentalization of ribosomal protein S6 transcript in human fibroblasts
por: Gabanella, Francesca, et al.
Publicado: (2020)

Exploring Mitochondrial Localization of SARS-CoV-2 RNA by Padlock Assay: A Pilot Study in Human Placenta
por: Gabanella, Francesca, et al.
Publicado: (2022)

Novel Adeno-Associated Viral Vector Delivering the Utrophin Gene Regulator Jazz Counteracts Dystrophic Pathology in mdx Mice
por: Strimpakos, Georgios, et al.
Publicado: (2014)

eEF1Bγ binds the Che-1 and TP53 gene promoters and their transcripts
por: Pisani, Cinzia, et al.
Publicado: (2016)

Early Routine Biomarkers of SARS-CoV-2 Morbidity and Mortality: Outcomes from an Emergency Section
por: Ceci, Flavio Maria, et al.
Publicado: (2022)

Utrophin up-regulation by artificial transcription factors induces muscle rescue and impacts the neuromuscular junction in mdx mice
por: Pisani, Cinzia, et al.
Publicado: (2018)

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

The eEF1γ Subunit Contacts RNA Polymerase II and Binds Vimentin Promoter Region
por: Corbi, Nicoletta, et al.
Publicado: (2010)

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

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)

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

UtroUp is a novel six zinc finger artificial transcription factor that recognises 18 base pairs of the utrophin promoter and efficiently drives utrophin upregulation
por: Onori, Annalisa, et al.
Publicado: (2013)

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)

A Novel Mutation in ABCA1 Gene Causing Tangier Disease in an Italian Family with Uncommon Neurological Presentation
por: Ceccanti, Marco, et al.
Publicado: (2016)

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)

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

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)

Programmed Cell Death-Ligand 1 in Head and Neck Squamous Cell Carcinoma: Molecular Insights, Preclinical and Clinical Data, and Therapies
por: Meliante, Piero Giuseppe, et al.
Publicado: (2022)

Alcohol and Head and Neck Cancer: Updates on the Role of Oxidative Stress, Genetic, Epigenetics, Oral Microbiota, Antioxidants, and Alkylating Agents
por: Ferraguti, Giampiero, 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)

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)

Cannot write session to /tmp/vufind_sessions/sess_fbabiq1d8tc79o5852fbhat9oq