Zobrazeno 1 - 10
of 50
pro vyhledávání: '"Edina Poletto"'
Publikováno v:
Clinical and Biomedical Research, Vol 43, Iss 4 (2024)
Modelos celulares são muito utilizados na pesquisa experimental e, idealmente, constituem o primeiro nível de modelo de estudo. A utilização de modelos celulares permite, por exemplo, a primeira avaliação de tolerabilidade e de segurança de f
Externí odkaz:
https://doaj.org/article/01cfeff891ca4a6f8b1c801aac46740a
Autor:
Delger Bayarsaikhan, Edina Poletto
Publikováno v:
Frontiers in Genome Editing, Vol 6 (2024)
Externí odkaz:
https://doaj.org/article/d17ea1daab1c4d43adeb597abc1b1c5e
Autor:
Francyne Kubaski, Alberto Burlina, Danilo Pereira, Camilo Silva, Zackary M. Herbst, Franciele B. Trapp, Kristiane Michelin-Tirelli, Franciele F. Lopes, Maira G. Burin, Ana Carolina Brusius-Facchin, Alice B. O. Netto, Edina Poletto, Tamires M. Bernardes, Gerson S. Carvalho, Ney B. Sorte, Fernanda N. Ferreira, Nilza Perin, Marta R. Clivati, Marnie T. S. de Santana, Sandra F. G. Lobos, Emilia K. E. A. Leão, Marcelo P. Coutinho, Paola V. Pinos, Maria L. S. F. Santos, Debora A. Penatti, Charles M. Lourenço, Giulia Polo, Roberto Giugliani
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-7 (2022)
Abstract Background Acid sphingomyelinase deficiency (ASMD) is a lysosomal disorder caused by deficiency of acid sphingomyelinase (ASM) leading to the accumulation of sphingomyelin (SM) in a variety of cell types. Lysosphingomyelin (LysoSM) is the de
Externí odkaz:
https://doaj.org/article/1013ea20819c42278d1b94181b7a75d1
Autor:
Edina Poletto, Pasqualina Colella, Luisa N. Pimentel Vera, Shaukat Khan, Shunji Tomatsu, Guilherme Baldo, Natalia Gomez-Ospina
Publikováno v:
Molecular Therapy: Methods & Clinical Development, Vol 25, Iss , Pp 392-409 (2022)
Autologous hematopoietic stem cell transplantation using genome-edited cells can become a definitive therapy for hematological and non-hematological disorders with neurological involvement. Proof-of-concept studies using human genome-edited hematopoi
Externí odkaz:
https://doaj.org/article/138467156b384541b8cb54764f091280
Autor:
Gabriel Civallero, Francyne Kubaski, Danilo Pereira, Gabriel Rübensam, Zackary M. Herbst, Camilo Silva, Franciele B. Trapp, Edina Poletto, Larissa Faqueti, Gabrielle Iop, Juliano Soares, Vanessa van der Linden, Helio van der Linden, Charles M. Lourenço, Roberto Giugliani
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 34, Iss , Pp 100945- (2023)
Externí odkaz:
https://doaj.org/article/406b9bb4aec246ce8befa5dec9f86fa8
Autor:
Gabriel Civallero, Francyne Kubaski, Danilo Pereira, Gabriel Rübensam, Zackary M. Herbst, Camilo Silva, Franciele B. Trapp, Edina Poletto, Larissa Faqueti, Gabrielle Iop, Juliano Soares, Vanessa van der Linden, Helio van der Linden, Charles M. Lourenço, Roberto Giugliani
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 32, Iss , Pp 100888- (2022)
Aromatic l-amino acid decarboxylase (AADC, EC 4.1.1.28) deficiency is a rare genetic disorder characterized by developmental delay, oculogyric crises, autonomic dysfunction and other problems, caused by biallelic mutations in the DDC gene leading to
Externí odkaz:
https://doaj.org/article/a1d507af4e944e219f4ad7abb6ceaf12
Autor:
Samantha G. Scharenberg, Edina Poletto, Katherine L. Lucot, Pasqualina Colella, Adam Sheikali, Thomas J. Montine, Matthew H. Porteus, Natalia Gomez-Ospina
Publikováno v:
Nature Communications, Vol 11, Iss 1, Pp 1-14 (2020)
Gaucher disease is a lysosomal storage disorder caused by insufficient glucocerebrosidase expression. Here, the authors describe a CRISPR/Cas9-based gene-editing approach to re-express this enzyme in human blood stem cells and show that they can engr
Externí odkaz:
https://doaj.org/article/224d60d712dd4dc594a6f383d84a1ecd
Autor:
Francyne Kubaski, Alberto Burlina, Giulia Polo, Danilo Pereira, Zackary M. Herbst, Camilo Silva, Franciele B. Trapp, Kristiane Michelin-Tirelli, Franciele F. Lopes, Maira G. Burin, Ana Carolina Brusius-Facchin, Alice B. O. Netto, Larissa Faqueti, Gabrielle D. Iop, Edina Poletto, Roberto Giugliani
Publikováno v:
International Journal of Neonatal Screening, Vol 8, Iss 3, p 39 (2022)
Niemann-Pick disease type C (NPC) is a lysosomal disorder caused by impaired cholesterol metabolism. Levels of lysosphingomyelin 509 (LysoSM509) have been shown elevated in dried blood spots (DBS) of NPC and acid sphingomyelinase deficiency patients.
Externí odkaz:
https://doaj.org/article/cce8ae4353fe4c76a53f67cf47819f02
Publikováno v:
Genetics and Molecular Biology, Iss 0 (2019)
Abstract Lysosomal storage diseases (LSDs) are inherited conditions caused by impaired lysosomal function and consequent substrate storage, leading to a range of clinical manifestations, including cardiovascular disease. This may lead to significant
Externí odkaz:
https://doaj.org/article/aa8f34a6db074dd895c4c1c4ed032cab
Autor:
Samantha G. Scharenberg, Edina Poletto, Katherine L. Lucot, Pasqualina Colella, Adam Sheikali, Thomas J. Montine, Matthew H. Porteus, Natalia Gomez-Ospina
Publikováno v:
Nature Communications, Vol 11, Iss 1, Pp 1-1 (2020)
An amendment to this paper has been published and can be accessed via a link at the top of the paper.
Externí odkaz:
https://doaj.org/article/2e720a5bd5c646a59d52cf105a7df039