about
Nuclear factor TDP-43 and SR proteins promote in vitro and in vivo CFTR exon 9 skippingHereditary eosinophil peroxidase deficiency: immunochemical and spectroscopic studies and evidence for a compound heterozygosity of the defectDepletion of TDP 43 overrides the need for exonic and intronic splicing enhancers in the human apoA-II gene.TDP-43 regulates its mRNA levels through a negative feedback loop.TDP-43 regulates Drosophila neuromuscular junctions growth by modulating Futsch/MAP1B levels and synaptic microtubules organizationA novel anti-aldolase C antibody specifically interacts with residues 85-102 of the proteinNuclear factor TDP-43 can affect selected microRNA levels.Exome sequencing of a colorectal cancer family reveals shared mutation pattern and predisposition circuitry along tumor pathwaysKeratin14 mRNA expression in human pneumocytes during quiescence, repair and disease.A novel Drosophila model of TDP-43 proteinopathies: N-terminal sequences combined with the Q/N domain induce protein functional loss and locomotion defectsFunctional mapping of the interaction between TDP-43 and hnRNP A2 in vivoTDP-43 high throughput screening analyses in neurodegeneration: advantages and pitfalls.Role of pseudoexons and pseudointrons in human cancer.Computer-assisted design, synthesis, binding and cytotoxicity assessments of new 1-(4-(aryl(methyl)amino)butyl)-heterocyclic sigma 1 ligands.New neurogenic lipoic-based hybrids as innovative Alzheimer's drugs with σ-1 agonism and β-secretase inhibition.TDP-43 affects splicing profiles and isoform production of genes involved in the apoptotic and mitotic cellular pathwayshnRNP H binding at the 5' splice site correlates with the pathological effect of two intronic mutations in the NF-1 and TSHbeta genesComplex splicing control of the human Thrombopoietin gene by intronic G runs.Genetic studies on myeloperoxidase deficiency in Italy.An exonic splicing enhancer offsets the atypical GU-rich 3' splice site of human apolipoprotein A-II exon 3.Functional characterization of the novel mutation IVS 8 (-11delC) (-14T>A) in the intron 8 of the glucocerebrosidase gene of two Italian siblings with Gaucher disease type I.Expression and characterization of recombinant human eosinophil peroxidase. Impact of the R286H substitution on the biosynthesis and activity of the enzyme.The A/G polymorphism in the -78 position of the apolipoprotein A-I promoter does not have a direct effect on transcriptional efficiency.Knockdown of MVK does not lead to changes in NALP3 expression or activation.Drosophila Answers to TDP-43 Proteinopathies.Aberrant 5' splice sites in human disease genes: mutation pattern, nucleotide structure and comparison of computational tools that predict their utilization.Glycolipid analysis of different tissues and cerebrospinal fluid in type II Gaucher disease.Genetic characterization of myeloperoxidase deficiency in Italy.Human, Drosophila, and C.elegans TDP43: nucleic acid binding properties and splicing regulatory function.Origin and evolution of the c.844_845ins68/c.833T>C mutations within the cystathionine beta-synthase gene in great apes.Florbetapir F 18 for brain imaging of β-amyloid plaques.Essential role of hippocampal noradrenaline in the regulation of spatial working memory and tdp-43 tissue pathology.TBPH/TDP-43 modulates translation of Drosophila futsch mRNA through an UG-rich sequence within its 5'UTR.Role of the Long Non-Coding RNA Growth Arrest-Specific 5 in Glucocorticoid Response in Children with Inflammatory Bowel Disease.RhoGAPp190: A potential player in tbph-mediated neurodegeneration in Drosophila.Regulation of 3' splice site selection in the 844ins68 polymorphism of the cystathionine Beta -synthase gene.New piperidine-based derivatives as sigma receptor ligands. Synthesis and pharmacological evaluationSystematic Analysis of Gene Expression Profiles Controlled by hnRNP Q and hnRNP R, Two Closely Related Human RNA Binding Proteins Implicated in mRNA Processing MechanismsSplicing Factors Induce Cystic Fibrosis Transmembrane Regulator Exon 9 Skipping through a Nonevolutionary Conserved Intronic ElementNeuropeptides in saliva of subjects with burning mouth syndrome: a pilot study
P50
Q24291081-FD43D866-6EBF-4197-807B-90EADF5DE8E3Q24564183-798A0205-48EF-4BA5-BD65-D203A792CE1AQ24811044-AAE0B8FB-5D36-45BD-86C6-3CC835119228Q33763346-320F42A6-AB13-4694-9954-DAA7D8FE6B36Q33849007-D4B391B2-2D76-43A1-B09B-F382B4563893Q34039883-7B615AD8-5D2E-496B-8B2A-A90DB7B280FAQ34112413-E343F0A2-343C-41D9-AE88-18F949B25C98Q36097337-405498F8-27B7-42B2-8D6A-2E556C50AE27Q36281383-1A95E2A8-9ED3-4F6E-BC6F-08EF70CB7ED1Q37036144-D1DA99E7-9246-4448-813C-FFE3BE02C09CQ37259106-40ABECBF-A7DC-4ACC-91C9-44AE96F1C922Q38090334-2EBF44B2-87BF-43BF-B0A1-F8ED32EEABACQ38160844-56EEBEC5-5F82-40E3-B730-0A46A6AF0BE8Q38760478-E9810008-3FC3-42A2-846D-41E41E336B63Q38842928-B4CEFEAB-A576-41F5-BBDC-51018A59CF8DQ38844661-DD96C0F9-5A87-42AD-9E4D-4C0B5F866CBCQ39946083-D6559F8C-C6C4-4EB4-939D-F2F9E29DA9EDQ40198625-D5C71551-238B-4D2B-99F9-8C576A522540Q40499430-8B85057B-254F-4A71-B080-E89507E4589AQ40537122-76F6D122-826F-483C-AA35-BB1268943B1BQ40860273-8A1BF31C-8E6F-479D-BAF8-2B9ACEC87BB6Q40874944-67F5BC13-27C1-4FA0-A2EC-39E9B4ADF80BQ41040042-70983808-08FF-46C2-AF7E-10C9FAF6FB19Q41844039-9CBB549F-BBF4-4B44-B449-38BB053C095BQ42137147-6427857A-6F77-44A0-B179-FFA8613B3949Q42430246-8F8EBF46-684A-4F13-9545-0180BA813FA6Q43986121-52F78F3F-1444-4009-8575-A9CAA65EA15BQ44860243-CBCF9D56-9F6A-442A-AE9D-40C5B9DCCCFFQ46434717-DCB2F1E2-70DA-4189-B166-C3066BD43CC5Q47971992-7A2B0D28-CE02-443B-8438-03ABED082800Q48111246-19D8C622-BDCF-4BF9-9E25-C28905327CC3Q48198417-F85B1774-FB2B-496B-A400-C1E4FBBC0AD9Q48887729-96CBA8D2-F36C-462A-B6F4-911259EED5BDQ50525836-7875715A-6479-43AB-99CD-93AC5535853EQ52322316-2333948A-628A-4F14-9C40-F0D5EAD79FCBQ52547335-379194F4-AAB0-4D8B-8DDD-4E67C5B4B52BQ57461635-C1A2B642-B675-406A-8415-85A481E07AE7Q58454162-03FBD012-1369-40BC-8675-B0DF16A79392Q58454220-1015A2A5-F84A-412D-96BE-313E9DA79104Q62795808-C0D465AD-F342-4722-9F49-A1D83C71505F
P50
description
hulumtues
@sq
researcher
@en
wetenschapper
@nl
հետազոտող
@hy
name
Maurizio Romano
@ast
Maurizio Romano
@en
Maurizio Romano
@es
Maurizio Romano
@nl
Maurizio Romano
@sl
type
label
Maurizio Romano
@ast
Maurizio Romano
@en
Maurizio Romano
@es
Maurizio Romano
@nl
Maurizio Romano
@sl
prefLabel
Maurizio Romano
@ast
Maurizio Romano
@en
Maurizio Romano
@es
Maurizio Romano
@nl
Maurizio Romano
@sl
P106
P1153
55493392000
P21
P31
P496
0000-0002-4820-2897