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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, original scientific article

Found in: ključnih besedah
Summary of found: ...silica, density-functional theory, defects, ...
Keywords: silica, density-functional theory, defects
Published: 17.05.2016; Views: 2783; Downloads: 83
URL Fulltext (0,00 KB)

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

Abstract: 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.
Found in: ključnih besedah
Summary of found: ...small RNA-based molecules that correct exons splicing defects. To evaluate their therapeutic potential focused on Familial...
Keywords: Familial Dysautonomia, IKBKAP, IKAP, splicing, splicing defects, ExSpeU1, U1 snRNA, mouse model, AAV
Published: 26.03.2018; Views: 2592; Downloads: 73
.pdf Fulltext (13,96 MB)

3.
Paramagnetic H-related defects in silica: a first-principles investigation
Layla Martin-Samos, Luigi Giacomazzi, Nicolas Richard, 2016, published scientific conference contribution

Found in: ključnih besedah
Keywords: silica, EPR, E'beta, first-principles, hydrogen related defects
Published: 16.10.2018; Views: 1862; Downloads: 0
.pdf Fulltext (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, original scientific article

Found in: ključnih besedah
Summary of found: ...silica, paramagnetic defects, EPR, disordered semiconductors...
Keywords: silica, paramagnetic defects, EPR, disordered semiconductors
Published: 03.10.2018; Views: 2094; Downloads: 0
.pdf Fulltext (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, original scientific article

Found in: ključnih besedah
Summary of found: ...silica, defects, optical fibers, hardening...
Keywords: silica, defects, optical fibers, hardening
Published: 03.10.2018; Views: 1756; Downloads: 0
.pdf Fulltext (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, original scientific article

Found in: ključnih besedah
Summary of found: ...silica, defects, optical fibers, hardening...
Keywords: silica, defects, optical fibers, hardening
Published: 03.10.2018; Views: 1784; Downloads: 0
.pdf Fulltext (803,09 KB)

7.
Paramagnetic centers in amorphous GeO2
Nicolas Richard, Layla Martin-Samos, Luigi Giacomazzi, 2015, published scientific conference contribution

Found in: ključnih besedah
Summary of found: ...germanium dioxide, defects, density-functional theory, EPR...
Keywords: germanium dioxide, defects, density-functional theory, EPR
Published: 03.10.2018; Views: 1806; Downloads: 0
.pdf Fulltext (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, independent scientific component part or a chapter in a monograph

Found in: ključnih besedah
Summary of found: ...Optical Fibers, radiation-induced point defects, dosimetry, ab-initio...
Keywords: Optical Fibers, radiation-induced point defects, dosimetry, ab-initio
Published: 24.10.2018; Views: 1827; Downloads: 0
.pdf Fulltext (632,99 KB)

9.
10.
Cathodoluminiscence study of defects in CeO2
Thanveer Thajudheen, Matjaz Valant, 2019, published scientific conference contribution abstract

Found in: ključnih besedah
Keywords: structural defects, ceria, cathodoluminiscence
Published: 29.05.2019; Views: 1194; Downloads: 0
.pdf Fulltext (1,73 MB)

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