about
Exon first nucleotide mutations in splicing: evaluation of in silico prediction toolsNuclear factor TDP-43 and SR proteins promote in vitro and in vivo CFTR exon 9 skippingMutation profile of the GAA gene in 40 Italian patients with late onset glycogen storage disease type IIDepletion of TDP 43 overrides the need for exonic and intronic splicing enhancers in the human apoA-II gene.Influence of correct secondary and tertiary RNA folding on the binding of cellular factors to the HCV IRESFunctional analysis of the interaction between HCV 5'UTR and putative subunits of eukaryotic translation initiation factor eIF3Improved reactivity of hepatitis C virus core protein epitopes in a conformational antigen-presenting systemMolecular basis of UG-rich RNA recognition by the human splicing factor TDP-43The TDP-43 N-terminal domain structure at high resolutionCharacterization and functional implications of the RNA binding properties of nuclear factor TDP-43, a novel splicing regulator of CFTR exon 9TDP-43 mutations in familial and sporadic amyotrophic lateral sclerosisComparison of multiple forms of the high mobility group I proteins in rodent and human cells. Identification of the human high mobility group I-C proteinDifferential expression of a novel proline-rich homeobox gene (Prh) in human hematolymphopoietic cellsFunctional properties and evolutionary splicing constraints on a composite exonic regulatory element of splicing in CFTR exon 12The intronic splicing code: multiple factors involved in ATM pseudoexon definition.TDP-43 regulates its mRNA levels through a negative feedback loop.Induction of murine mucosal CCR5-reactive antibodies as an anti-human immunodeficiency virus strategyOptimal antisense target reducing INS intron 1 retention is adjacent to a parallel G quadruplex.TDP-43 regulates Drosophila neuromuscular junctions growth by modulating Futsch/MAP1B levels and synaptic microtubules organizationNeurotoxic effects of TDP-43 overexpression in C. elegans.Nuclear factor TDP-43 can affect selected microRNA levels.Cryptic splice site usage in exon 7 of the human fibrinogen Bbeta-chain gene is regulated by a naturally silent SF2/ASF binding site within this exonDual role of G-runs and hnRNP F in the regulation of a mutation-activated pseudoexon in the fibrinogen gamma-chain transcript.Ab initio prediction of mutation-induced cryptic splice-site activation and exon skipping.TDP-43 is recruited to stress granules in conditions of oxidative insult.Influence of RNA secondary structure on the pre-mRNA splicing process.Electrostatic Repulsion Governs TDP-43 C-terminal Domain AggregationAnother step forward for SELEXive splicing.Altered localization and functionality of TAR DNA Binding Protein 43 (TDP-43) in niemann- pick disease type CKeratin14 mRNA expression in human pneumocytes during quiescence, repair and disease.Misregulation of human sortilin splicing leads to the generation of a nonfunctional progranulin receptor.Defective splicing, disease and therapy: searching for master checkpoints in exon definition.Structural and biochemical characterization of an RNA/DNA binding motif in the N-terminal domain of RecQ4 helicases.Multiple roles of TDP-43 in gene expression, splicing regulation, and human disease.Aberrant cleavage of TDP-43 enhances aggregation and cellular toxicity.Phosphorylated TDP-43 in frontotemporal lobar degeneration and amyotrophic lateral sclerosis.Functional mapping of the interaction between TDP-43 and hnRNP A2 in vivoFunctional characterization of the common c.-32-13T>G mutation of GAA gene: identification of potential therapeutic agents.Missed threads. The impact of pre-mRNA splicing defects on clinical practice.The molecular links between TDP-43 dysfunction and neurodegeneration.
P50
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P50
description
hulumtues
@sq
researcher
@en
wetenschapper
@nl
հետազոտող
@hy
name
Emanuele Buratti
@ast
Emanuele Buratti
@en
Emanuele Buratti
@es
Emanuele Buratti
@nl
Emanuele Buratti
@sl
type
label
Emanuele Buratti
@ast
Emanuele Buratti
@en
Emanuele Buratti
@es
Emanuele Buratti
@nl
Emanuele Buratti
@sl
prefLabel
Emanuele Buratti
@ast
Emanuele Buratti
@en
Emanuele Buratti
@es
Emanuele Buratti
@nl
Emanuele Buratti
@sl
P1053
K-4691-2016
P106
P21
P2798
P31
P3829
P3835
emanuele-buratti
P496
0000-0002-1356-9074
P569
2000-01-01T00:00:00Z