Zobrazeno 1 - 10
of 11
pro vyhledávání: '"Elisa, Goina"'
Autor:
Emanuele Buratti, Paolo Peruzzo, Luca Braga, Irene Zanin, Cristiana Stuani, Elisa Goina, Maurizio Romano, Mauro Giacca, Andrea Dardis
Publikováno v:
Molecular Therapy: Methods & Clinical Development, Vol 20, Iss , Pp 227-236 (2021)
Pompe disease (PD) is an autosomal recessive lysosomal storage disorder due to deficient activity of the acid alpha glucosidase enzyme (GAA). As a consequence of the enzymatic defect, undigested glycogen accumulates within lysosomes. Most patients af
Externí odkaz:
https://doaj.org/article/4ecac00a17304027b752f7721c9a9b63
Publikováno v:
Molecular Therapy
Glycogen storage disease type II (GSDII) is a lysosomal disorder caused by the deficient activity of acid alpha-glucosidase (GAA) enzyme, leading to the accumulation of glycogen within the lysosomes. The disease has been classified in infantile and l
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dab4904f26a622469248732521659361
http://europepmc.org/articles/PMC5589062
http://europepmc.org/articles/PMC5589062
Publikováno v:
Human mutation. 40(11)
Glycogen storage disease II (GSDII), also called Pompe disease, is an autosomal recessive inherited disease caused by a defect in glycogen metabolism due to the deficiency of the enzyme acid alpha-glucosidase (GAA) responsible for its degradation. So
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ccfe4ce2fd61cfc95fe034724ac66311
https://pubmed.ncbi.nlm.nih.gov/31301153
https://pubmed.ncbi.nlm.nih.gov/31301153
Autor:
Eugenia Fraile-Bethencourt, Eladio Velasco, Elisa Goina, Alberto Valenzuela-Palomo, Beatriz Díez-Gómez, Emanuele Buratti, Alberto Acedo
Publikováno v:
Digital.CSIC. Repositorio Institucional del CSIC
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Splicing disruption is a common mechanism of gene inactivation associated with germline variants of susceptibility genes. To study the role of BRCA2 mis-splicing in hereditary breast/ovarian cancer (HBOC), we performed a comprehensive analysis of var
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f001b25439f437747915d5cea0e0f4cc
http://hdl.handle.net/10261/196484
http://hdl.handle.net/10261/196484
Publikováno v:
Scientific Reports
More than one hundred distinct gene hemizygosities are specifically linked to epilepsy, mental retardation, autism, schizophrenia and neuro-degeneration. Radical repair of these gene deficits via genome engineering is hardly feasible. The same applie
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6440b22ae12a8aaeaa81257264238082
https://pubmed.ncbi.nlm.nih.gov/27995975
https://pubmed.ncbi.nlm.nih.gov/27995975
Publikováno v:
RNA & DISEASE.
Here we provide a concise overview of a new platform we recently developed for transactivating endogenous genes ad libitum. It relies on a binary design, including an RNA cofactor in charge of recognizing the target gene, and a polypeptidic apofactor
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::17d174486de301ef4de8f1b090189736
https://doi.org/10.14800/rd.1142
https://doi.org/10.14800/rd.1142
Publikováno v:
Nucleic Acids Research
To promote expression of endogenous genes ad libitum, we developed a novel, programmable transcription factor prototype. Kept together via an MS2 coat protein/RNA interface, it includes a fixed, polypeptidic transactivating domain and a variable RNA
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0da09969f1ee643d151e8429f125083c
http://hdl.handle.net/20.500.11767/11462
http://hdl.handle.net/20.500.11767/11462
Publikováno v:
Methods in molecular biology (Clifton, N.J.). 741
In cystic fibrosis, genomic variants can result in defective processing of the CFTR precursor mRNA. Due to the complexity of the splicing process, the evaluation of their pathological effect is an important aspect both in the diagnostic field and in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::c5dc0066988e04104004939d7283a8ad
https://pubmed.ncbi.nlm.nih.gov/21594784
https://pubmed.ncbi.nlm.nih.gov/21594784
Publikováno v:
Methods in Molecular Biology ISBN: 9781617791161
In cystic fibrosis, genomic variants can result in defective processing of the CFTR precursor mRNA. Due to the complexity of the splicing process, the evaluation of their pathological effect is an important aspect both in the diagnostic field and in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c97bd54f579b5dad8ee6535797019ae8
https://doi.org/10.1007/978-1-61779-117-8_11
https://doi.org/10.1007/978-1-61779-117-8_11
Autor:
Pascale Saugier-Veber, Mario Tosi, Myriam Vezain, Séverine Fehrenbach, Franco Pagani, Thierry Frebourg, Renaud Touraine, Annick Toutain, Elisa Goina, Alexandra Martins, Véronique Manel
Publikováno v:
Human Mutation
Human Mutation, Wiley, 2010, 31 (1), pp.E1110-E1125. ⟨10.1002/humu.21173⟩
Human Mutation, Wiley, 2010, 31 (1), pp.E1110-E1125. ⟨10.1002/humu.21173⟩
Spinal muscular atrophy (SMA) is a common neuromuscular disorder caused by homozygous inactivation of the SMN1 (Survival Motor Neuron 1) gene. The disease severity is mainly influenced by the copy number of SMN2, a nearly identical gene from which on
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::33fce434ceb8a77d0316ea937edd1c0a
https://hal-normandie-univ.archives-ouvertes.fr/hal-02336380
https://hal-normandie-univ.archives-ouvertes.fr/hal-02336380