Zobrazeno 1 - 10
of 63
pro vyhledávání: '"Amparo Chabás"'
Publikováno v:
Journal of Lipid Research, Vol 48, Iss 10, Pp 2275-2282 (2007)
GM1-gangliosidosis and Morquio B disease are lysosomal storage disorders caused by β-galactosidase deficiency attributable to mutations in the GLB1 gene. On reaching the endosomal-lysosomal compartment, the β-galactosidase protein associates with t
Externí odkaz:
https://doaj.org/article/c812617b08cd4dc180f200e5451a83d3
Autor:
Amparo Chabás, Daniel Grinberg, Joana Duque, Montserrat Lluch, Gessamí Sánchez-Ollé, Meritxell Egido-Gabás, Lluïsa Vilageliu, Josefina Casas
Publikováno v:
Blood Cells, Molecules, and Diseases. 42:159-166
Gaucher disease is an autosomal recessive disorder. It is characterized by the accumulation of glucosylceramide in lysosomes of mononuclear phagocyte system, attributable to acid beta-glucosidase deficiency. The main consequences of this disease are
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3c24249b55043586343ef51e6a28533b
https://doi.org/10.1016/j.bcmd.2008.11.002
https://doi.org/10.1016/j.bcmd.2008.11.002
Autor:
Eduardo López-Viñas, Sílvia Atrian, Amparo Chabás, Daniel Grinberg, Lluïsa Vilageliu, Paulino Gómez-Puertas
Publikováno v:
Proteins: Structure, Function, and Bioinformatics. 70:882-891
Gaucher disease, the most prevalent lysosomal storage disorder, is principally caused by malfunction of the lysosomal enzyme glucocerebrosidase (GBA), a 497-amino acid membrane glycoprotein that catalyzes the hydrolysis of glucosylceramide to ceramid
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::12150df5ae17d2b4957352f59f35e5aa
https://doi.org/10.1002/prot.21554
https://doi.org/10.1002/prot.21554
Autor:
Elena Garrido, Bru Cormand, Maria Josep Coll, Amparo Chabás, Daniel Grinberg, Lluïsa Vilageliu, Carmen Domínguez, Mariana Blanco
Publikováno v:
Molecular Genetics and Metabolism. 92:122-130
Maroteaux-Lamy syndrome, or mucopolysaccharidosis VI (MPS VI), is an autosomal recessive lysosomal storage disorder caused by a deficiency of N-acetylgalactosamine-4-sulfatase or arylsulfatase B (ARSB). We aimed to analyze the spectrum of mutations r
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::770c1bdea4aa6b2e63eb6d4eb412b627
https://doi.org/10.1016/j.ymgme.2007.06.002
https://doi.org/10.1016/j.ymgme.2007.06.002
Publikováno v:
Clinical Genetics. 71:273-279
GM1 gangliosidosis is a lysosomal storage disorder caused by the absence or reduction of lysosomal beta-galactosidase activity because of mutations in the GLB1 gene. Three major clinical forms have been established: type I (infantile), type II (late
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::325e157207da9514430558b3e586f695
https://doi.org/10.1111/j.1399-0004.2007.00767.x
https://doi.org/10.1111/j.1399-0004.2007.00767.x
Autor:
Daniel Grinberg, Raül Santamaria, Lluïsa Vilageliu, Manuel Cidrás, Magdalena Montfort, Anna Diaz-Font, Amparo Chabás, Laura Gort
Publikováno v:
Blood Cells, Molecules, and Diseases. 35:253-258
Gaucher disease, the most common lysosomal storage disorder, encompasses a wide spectrum of clinical symptoms. The perinatal lethal form is very rare and is considered a distinct form of classic type 2 Gaucher disease. Prominent features of the sever
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::12d939c0f02605e6a81449364e60cfc5
https://doi.org/10.1016/j.bcmd.2005.04.007
https://doi.org/10.1016/j.bcmd.2005.04.007
Autor:
Néstor A. Chamoles, Lluïsa Vilageliu, Raül Santamaria, Maria Josep Coll, Daniel Grinberg, Mariana Blanco, Anna Diaz-Font, Amparo Chabás, Mónica Cozar
Publikováno v:
Molecular Genetics and Metabolism. 86:206-211
Multiple sulfatase deficiency (MSD) is a rare autosomal recessive lysosomal storage disease characterized by impaired activity of all known sulfatases. The gene SUMF1, recently identified, encodes the enzyme responsible for post-translational modific
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ebb098bed4b1391d54f1b6f4256774b6
https://doi.org/10.1016/j.ymgme.2005.07.004
https://doi.org/10.1016/j.ymgme.2005.07.004
Autor:
Elena Garrido, Amparo Chabás, Magda Montfort, John J. Hopwood, Lluïsa Vilageliu, Daniel Grinberg
Publikováno v:
Molecular Genetics and Metabolism. 83:246-251
Mucopolysaccharidosis IIIA (MPS IIIA; Sanfilippo syndrome) is an autosomal recessive lysosomal disorder caused by the deficiency of sulfamidase (EC 3.10.1.1), required for the degradation of the mucopolysaccharide heparan sulfate. The molecular defec
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::87236116cdcab53701a51dc5ee935f7f
https://doi.org/10.1016/j.ymgme.2004.07.001
https://doi.org/10.1016/j.ymgme.2004.07.001
Publikováno v:
Human Mutation. 23:567-575
Gaucher disease, the most prevalent sphingolipidosis, is caused by the deficient activity of acid beta-glucosidase, mainly due to mutations in the GBA gene. Over 200 mutations have been identified worldwide, more than 25 of which were in Spanish pati
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::db0f83c355be12652d88e926a4cdd831
https://doi.org/10.1002/humu.20043
https://doi.org/10.1002/humu.20043
Publikováno v:
Blood Cells, Molecules, and Diseases. 31:183-186
A number of gene therapy approaches have been developed for the treatment of genetic diseases, most of them based on the use of viral vectors. However, in general, they have not been successful and some complications, such as immune reactions induced
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c453f12e990d246a7dbc571c6a246a5e
https://doi.org/10.1016/s1079-9796(03)00157-8
https://doi.org/10.1016/s1079-9796(03)00157-8