Repozitorij Univerze v Novi Gorici

Iskanje po repozitoriju
A+ | A- | Pomoč | SLO | ENG

Iskalni niz: išči po
išči po
išči po
išči po
* po starem in bolonjskem študiju

Opcije:
  Ponastavi


1 - 10 / 10
Na začetekNa prejšnjo stran1Na naslednjo stranNa konec
1.
Ge(2), Ge(1) and Ge-E´ centers in irradiated Ge-doped silica
Layla Martin-Samos, Nicolas Richard, S. Girard, A. Boukenter, Youcef Ouerdane, Luigi Giacomazzi, 2015, izvirni znanstveni članek

Najdeno v: ključnih besedah
Povzetek najdenega: ...silica, density-functional theory, defects, ...
Ključne besede: silica, density-functional theory, defects
Objavljeno: 17.05.2016; Ogledov: 1422; Prenosov: 37
URL Polno besedilo (0,00 KB)

2.
MODIFIED U1 RNAs AS SPLICING CORRECTORS IN HUMAN GENETIC DISORDERS
Katarzyna Rajkowska, 2018, doktorska disertacija

Opis: The experimental work of this thesis was performed at the International Centre for Genetic Engineering and Biotechnology (ICGEB) in the Human Molecular Genetics Group, under the scientific direction of Prof. Franco Pagani. The project was developed during the academic years 2014-2017. Modified U1 RNAs, also named Exon Specific U1s (ExSpeU1s) represent a novel class of small RNA-based molecules that correct exons splicing defects. To evaluate their therapeutic potential focused on Familial Dysautonomia (FD), a rare autosomal recessive disorder characterized by progressive degeneration of the sensory and autonomic nervous system. More than 99% of patients are homozygous for the T to C transition in position 6 of the IKBKAP intron 20 (c.2204+6T>C). This substitution modifies the exon 20 5’ splice site (5’ss) inducing exon skipping in a tissue-specific manner and reducing the total amount of IKAP protein. The molecular mechanisms underlying the IKBKAP mis-splicing are not completely clear and there are no effective treatments. In this thesis, I investigated the therapeutic potential of ExSpeU1s and the role of cis- and trans-acting factors that regulates IKBKAP splicing. Using a splicing functional assay, I identified ExSpeU1s that bind to intron 20 sequences and rescue the exon 20 skipping defect. Interestingly, their rescue activity was modulated by several splicing factors and requires a critical exonic splicing enhancer element. Transfection experiment showed the involvement of both enhancing (TIA1, PTBP1 and PTB4) and inhibitory (SRSF3, hnRNPA1, FOX and FUS) splicing factors in IKBKAP splicing. To better evaluate the ExSpeU1s therapeutic efficacy, I transduced FD patient’s fibroblasts with a lentiviral vector expressing the most active ExSpeU1. This resulted in a complete rescue of the exon skipping defect and improvement in IKAP protein expression. Most importantly, intraperitoneal delivery of ExSpeU1s by AAV9 into a transgenic mouse model, that recapitulates the tissue-specific mis-splicing seen in FD patients, corrected the aberrant splicing patterns in several tissues increasing the amount of the corresponding IKAP protein. All together, these results identify novel regulatory splicing factors involved in the IKBKAP exon 20 regulation and provide the proof of principle that ExSpeU1s delivered in vivo by AAV vectors represent a novel therapeutic strategy for FD.
Najdeno v: ključnih besedah
Povzetek najdenega: ...small RNA-based molecules that correct exons splicing defects. To evaluate their therapeutic potential focused on Familial...
Ključne besede: Familial Dysautonomia, IKBKAP, IKAP, splicing, splicing defects, ExSpeU1, U1 snRNA, mouse model, AAV
Objavljeno: 26.03.2018; Ogledov: 1297; Prenosov: 25
.pdf Polno besedilo (13,96 MB)

3.
Paramagnetic H-related defects in silica: a first-principles investigation
Layla Martin-Samos, Luigi Giacomazzi, Nicolas Richard, 2016, objavljeni znanstveni prispevek na konferenci

Najdeno v: ključnih besedah
Ključne besede: silica, EPR, E'beta, first-principles, hydrogen related defects
Objavljeno: 16.10.2018; Ogledov: 510; Prenosov: 0
.pdf Polno besedilo (360,58 KB)

4.
EPR parameters of E' centers in v-SiO2 from first-principles calculations
Nicolas Richard, S. Girard, Youcef Ouerdane, A. Boukenter, Layla Martin-Samos, Luigi Giacomazzi, 2014, izvirni znanstveni članek

Najdeno v: ključnih besedah
Povzetek najdenega: ...silica, paramagnetic defects, EPR, disordered semiconductors...
Ključne besede: silica, paramagnetic defects, EPR, disordered semiconductors
Objavljeno: 03.10.2018; Ogledov: 625; Prenosov: 0
.pdf Polno besedilo (1,26 MB)

5.
Neutron irradiation effects on the structural properties of KU1, KS-4V and I301 silica glasses
Youcef Ouerdane, A. Boukenter, A. Ibarra, Layla Martin-Samos, P. Martín, Nicolas Richard, S. Girard, Luigi Giacomazzi, M. León, 2014, izvirni znanstveni članek

Najdeno v: ključnih besedah
Povzetek najdenega: ...silica, defects, optical fibers, hardening...
Ključne besede: silica, defects, optical fibers, hardening
Objavljeno: 03.10.2018; Ogledov: 493; Prenosov: 0
.pdf Polno besedilo (724,27 KB)

6.
Coupled theoretical and experimental studies for the radiation hardening of silica-based optical fibers
R. Boscaino, M. Cannas, Youcef Ouerdane, A. Boukenter, S. Agnello, P. Paillet, A. Alessi, C. Marcandella, D. Di Francesca, Layla Martin-Samos, Luigi Giacomazzi, S. Girard, Nicolas Richard, 2014, izvirni znanstveni članek

Najdeno v: ključnih besedah
Povzetek najdenega: ...silica, defects, optical fibers, hardening...
Ključne besede: silica, defects, optical fibers, hardening
Objavljeno: 03.10.2018; Ogledov: 508; Prenosov: 0
.pdf Polno besedilo (803,09 KB)

7.
Paramagnetic centers in amorphous GeO2
Nicolas Richard, Layla Martin-Samos, Luigi Giacomazzi, 2015, objavljeni znanstveni prispevek na konferenci

Najdeno v: ključnih besedah
Povzetek najdenega: ...germanium dioxide, defects, density-functional theory, EPR...
Ključne besede: germanium dioxide, defects, density-functional theory, EPR
Objavljeno: 03.10.2018; Ogledov: 571; Prenosov: 0
.pdf Polno besedilo (575,92 KB)

8.
Radiation Effects on Optical Fibers and Fiber-Based Sensors
Nicolas Richard, Philippe Paillet, Youcef Ouerdane, A. Boukenter, Sylvain Girard, Layla Martin-Samos, Luigi Giacomazzi, Claude Marcandella, 2015, samostojni znanstveni sestavek ali poglavje v monografski publikaciji

Najdeno v: ključnih besedah
Povzetek najdenega: ...Optical Fibers, radiation-induced point defects, dosimetry, ab-initio...
Ključne besede: Optical Fibers, radiation-induced point defects, dosimetry, ab-initio
Objavljeno: 24.10.2018; Ogledov: 451; Prenosov: 0
.pdf Polno besedilo (632,99 KB)

9.
10.
Cathodoluminiscence study of defects in CeO2
Thanveer Thajudheen, Matjaz Valant, 2019, objavljeni povzetek znanstvenega prispevka na konferenci

Najdeno v: ključnih besedah
Ključne besede: structural defects, ceria, cathodoluminiscence
Objavljeno: 29.05.2019; Ogledov: 202; Prenosov: 0
.pdf Polno besedilo (1,73 MB)

Iskanje izvedeno v 0 sek.
Na vrh