Zobrazeno 1 - 10
of 170
pro vyhledávání: '"Luisa, Sturiale"'
Autor:
Ikhui Kho, Ekaterina P. Demina, Xuefang Pan, Irene Londono, Christopher W. Cairo, Luisa Sturiale, Angelo Palmigiano, Angela Messina, Domenico Garozzo, Roth-Visal Ung, Fabrice Mac-Way, Éric Bonneil, Pierre Thibault, Mathieu Lemaire, Carlos R. Morales, Alexey V. Pshezhetsky
Publikováno v:
JCI Insight, Vol 8, Iss 20 (2023)
Sialidosis is an ultra-rare multisystemic lysosomal disease caused by mutations in the neuraminidase 1 (NEU1) gene. The severe type II form of the disease manifests with a prenatal/infantile or juvenile onset, bone abnormalities, severe neuropatholog
Externí odkaz:
https://doaj.org/article/020e7d15b3464b17be3a39d683d06c32
Publikováno v:
Frontiers in Environmental Science, Vol 11 (2023)
Climate change in recent years is shaping society’s habits and life in large cities, then it will be necessary to plan and design nature-based urban solutions to meet different interests and needs. To enable this approach between cities, urban gree
Externí odkaz:
https://doaj.org/article/662c6548a28847a68b7715a3edeaa52f
Autor:
Eleonora Bonaventura, Rita Barone, Luisa Sturiale, Rosa Pasquariello, Maria Grazia Alessandrì, Anna Maria Pinto, Alessandra Renieri, Celeste Panteghini, Barbara Garavaglia, Giovanni Cioni, Roberta Battini
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-14 (2021)
Abstract Background SLC39A8, a gene located on chromosome 4q24, encodes for the manganese (Mn) transporter ZIP8 and its detrimental variants cause a type 2 congenital disorder of glycosylation (CDG). The common SLC39A8 missense variant A391T is assoc
Externí odkaz:
https://doaj.org/article/975b0a9e6e2a4e7b988703318d74402a
Autor:
Matthew P. Wilson, Dulce Quelhas, Elisa Leão‐Teles, Luisa Sturiale, Daisy Rymen, Liesbeth Keldermans, Valérie Race, Erika Souche, Esmeralda Rodrigues, Teresa Campos, Emile Van Schaftingen, François Foulquier, Domenico Garozzo, Gert Matthijs, Jaak Jaeken
Publikováno v:
JIMD Reports, Vol 58, Iss 1, Pp 122-128 (2021)
Abstract Recently, a disorder caused by the heterozygous de novo c.1267C>T (p.R423*) substitution in SLC37A4 has been described. This causes mislocalization of the glucose‐6‐phosphate transporter to the Golgi leading to a congenital disorder of g
Externí odkaz:
https://doaj.org/article/fb9480b0400444b79ad09a8a472411f2
Publikováno v:
AIMS Agriculture and Food, Vol 4, Iss 2, Pp 251-265 (2019)
This research analyzes consumers’ different purchasing attitudes in traditional and on-line markets. Italy’s on-line direct selling process for organic farm products is still in its formative phase, and the prospective developments mark an intere
Externí odkaz:
https://doaj.org/article/d651a4483234463e91b1e67b6688e040
Autor:
Luisa Sturiale, Marie-Cécile Nassogne, Angelo Palmigiano, Angela Messina, Immacolata Speciale, Rosangela Artuso, Gaetano Bertino, Nicole Revencu, Xavier Stephénne, Cristina De Castro, Gert Matthijs, Rita Barone, Jaak Jaeken, Domenico Garozzo
Publikováno v:
iScience, Vol 24, Iss 4, Pp 102323- (2021)
Summary: Glycosylation is a fundamental post-translational modification of proteins that boosts their structural diversity providing subtle and specialized biological properties and functions. All those genetic diseases due to a defective glycan bios
Externí odkaz:
https://doaj.org/article/e93c083c6ca5470c88eb8af2ea72b54c
Autor:
Dulce Quelhas, Joana Correia, Jaak Jaeken, Luísa Azevedo, Mónica Lopes-Marques, Anabela Bandeira, Liesbeth Keldermans, Gert Matthijs, Luisa Sturiale, Esmeralda Martins
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 26, Iss , Pp 100717- (2021)
SLC35A2 encodes the X-linked transporter that carries uridine diphosphate (UDP)-galactose from the cytosol to the lumen of the Golgi apparatus and the endoplasmic reticulum. Pathogenic variants have been associated to a congenital disorder of glycosy
Externí odkaz:
https://doaj.org/article/54434bbf08f84d7e9aff993eb7985c64
Publikováno v:
Agriculture, Vol 12, Iss 3, p 400 (2022)
Contemporary agriculture is increasingly oriented toward the synergistic adoption of technologies such as the Internet of Things, Internet of Farming, big data analytics, and blockchain to combine resource protection and economic, social, and environ
Externí odkaz:
https://doaj.org/article/bcb970d6a2254d1a929e15b53d1d7dad
Autor:
Alessandro SCUDERI, Luisa STURIALE
Publikováno v:
Agricultural Economics (AGRICECON), Vol 62, Iss 5, Pp 205-214 (2016)
In the last decade, citrus fruits farming, at the international level, revealed an upward trend changing the traditional scenarios of the offer, with the exchange of products coming from all areas of the world, thanks to the progressive abrogation of
Externí odkaz:
https://doaj.org/article/109c2d81ec0644f9b70e6fb462d3f998
Autor:
Agata Fiumara, Annamaria Sapuppo, Lorenzo Ferri, Alessia Arena, Adriana Prato, Domenico Garozzo, Luisa Sturiale, Amelia Morrone, Rita Barone
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a19494b06183fca616ea758998cc4c3e
https://hdl.handle.net/20.500.11769/551071
https://hdl.handle.net/20.500.11769/551071
