Evidence for a modifying pathway in SMA discordant families: reduced SMN level decreases the amount of its interacting partners and Htra2-beta1 - Wikidata - thesis-toulmin - TriplyDB

Evidence for a modifying pathway in SMA discordant families: reduced SMN level decreases the amount of its interacting partners and Htra2-beta1

Evidence for a modifying pathway in SMA discordant families: reduced SMN level decreases the amount of its interacting partners and Htra2-beta1

http://www.wikidata.org/entity/Q28206060

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Gemin8 is a novel component of the survival motor neuron complex and functions in small nuclear ribonucleoprotein assembly The zinc finger protein ZPR1 is a potential modifier of spinal muscular atrophy.Deficiency of the zinc finger protein ZPR1 causes defects in transcription and cell cycle progression ZPR1 is essential for survival and is required for localization of the survival motor neurons (SMN) protein to Cajal bodies.Gemin proteins are required for efficient assembly of Sm-class ribonucleoproteins.SMN transcript levels in leukocytes of SMA patients determined by absolute real-time PCR The RNA binding protein hnRNP Q modulates the utilization of exon 7 in the survival motor neuron 2 (SMN2) gene Molecular Mechanisms of Neurodegeneration in Spinal Muscular Atrophy Applicability of histone deacetylase inhibition for the treatment of spinal muscular atrophy High expression level of Tra2-β1 is responsible for increased SMN2 exon 7 inclusion in the testis of SMA mice Structural insights into the interaction of the evolutionarily conserved ZPR1 domain tandem with eukaryotic EF1A, receptors, and SMN complexes A short antisense oligonucleotide masking a unique intronic motif prevents skipping of a critical exon in spinal muscular atrophy SAHA ameliorates the SMA phenotype in two mouse models for spinal muscular atrophy Deficiency of the zinc finger protein ZPR1 causes neurodegeneration The survival of motor neuron (SMN) protein interacts with the mRNA-binding protein HuD and regulates localization of poly(A) mRNA in primary motor neuron axons.A role for SMN exon 7 splicing in the selective vulnerability of motor neurons in spinal muscular atrophy Ribonucleoprotein assembly defects correlate with spinal muscular atrophy severity and preferentially affect a subset of spliceosomal snRNPs Decreased microRNA levels lead to deleterious increases in neuronal M2 muscarinic receptors in Spinal Muscular Atrophy models Spinal Muscular Atrophy: From Defective Chaperoning of snRNP Assembly to Neuromuscular Dysfunction.A feedback loop regulates splicing of the spinal muscular atrophy-modifying gene, SMN2.Splicing of a critical exon of human Survival Motor Neuron is regulated by a unique silencer element located in the last intron.In vivo selection reveals combinatorial controls that define a critical exon in the spinal muscular atrophy genes.Genetic background alters the severity and onset of neuromuscular disease caused by the loss of ubiquitin-specific protease 14 (usp14)Genetic Modifiers for Neuromuscular Diseases A common spinal muscular atrophy deletion mutation is present on a single founder haplotype in the US Hutterites Treatment of spinal muscular atrophy cells with drugs that upregulate SMN expression reveals inter- and intra-patient variability.Clinical and Genetic Study of Algerian Patients with Spinal Muscular Atrophy.Genetic Interactions between the Members of the SMN-Gemins Complex in Drosophila.Spinal muscular atrophy genetic counseling access and genetic knowledge: parents' perspectives.Plastin 3 Expression Does Not Modify Spinal Muscular Atrophy Severity in the ∆7 SMA Mouse Spinal muscular atrophy: the role of SMN in axonal mRNA regulation.ERRβ splice variants differentially regulate cell cycle progression.Modulating the expression of disease genes with RNA-based therapy.Dynamics of survival of motor neuron (SMN) protein interaction with the mRNA-binding protein IMP1 facilitates its trafficking into motor neuron axons.Calcium binding is essential for plastin 3 function in Smn-deficient motoneurons.Dual masking of specific negative splicing regulatory elements resulted in maximal exon 7 inclusion of SMN2 gene.Spinal muscular atrophy and the antiapoptotic role of survival of motor neuron (SMN) protein.Invited review: decoding the pathophysiological mechanisms that underlie RNA dysregulation in neurodegenerative disorders: a review of the current state of the art.Advances in understanding the role of disease-associated proteins in spinal muscular atrophy.Genome-wide identification of mRNAs associated with the protein SMN whose depletion decreases their axonal localization.

P2860

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P2860

Evidence for a modifying pathway in SMA discordant families: reduced SMN level decreases the amount of its interacting partners and Htra2-beta1

http://www.wikidata.org/entity/Q28206060

description

2003 nî lūn-bûn

@nan

2003 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած

@hyw

2003 թվականի դեկտեմբերին հրատարակված գիտական հոդված

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2003年の論文

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2003年論文

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2003年論文

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2003年論文

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2003年論文

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2003年論文

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2003年论文

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name

Evidence for a modifying pathw ...... cting partners and Htra2-beta1

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Evidence for a modifying pathw ...... cting partners and Htra2-beta1

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Evidence for a modifying pathw ...... cting partners and Htra2-beta1

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Evidence for a modifying pathw ...... cting partners and Htra2-beta1

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Evidence for a modifying pathw ...... cting partners and Htra2-beta1

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Evidence for a modifying pathw ...... cting partners and Htra2-beta1

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Evidence for a modifying pathw ...... cting partners and Htra2-beta1

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Evidence for a modifying pathw ...... cting partners and Htra2-beta1

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Evidence for a modifying pathw ...... cting partners and Htra2-beta1

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Brunhilde Wirth

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