Zobrazeno 1 - 10
of 20
pro vyhledávání: '"María Dolores Ledesma"'
Enhanced mGluR5 intracellular activity causes psychiatric alterations in Niemann Pick type C disease
Autor:
Ana Toledano-Zaragoza, Violeta Enriquez-Zarralanga, Sara Naya-Forcano, Víctor Briz, Rocío Alfaro-Ruíz, Miguel Parra-Martínez, Daniel N. Mitroi, Rafael Luján, José A. Esteban, María Dolores Ledesma
Publikováno v:
Cell Death and Disease, Vol 15, Iss 10, Pp 1-13 (2024)
Abstract Niemann-Pick disease Type C (NPC) is caused by mutations in the cholesterol transport protein NPC1 leading to the endolysosomal accumulation of the lipid and to psychiatric alterations. Using an NPC mouse model (Npc1nmf164) we show aberrant
Externí odkaz:
https://doaj.org/article/a29dff6528f64981ad437746890a57a7
Publikováno v:
Cell Death and Disease, Vol 14, Iss 4, Pp 1-13 (2023)
Abstract Acid sphingomyelinase deficiency (ASMD) is a lysosomal storage disorder caused by mutations in the SMPD1 gene encoding for the acid sphingomyelinase (ASM). While intravenous infusion of recombinant ASM is an effective treatment for the perip
Externí odkaz:
https://doaj.org/article/fee74d17d16e43ca93a80663a86bb60f
Autor:
Beatriz Soto-Huelin, Bohdan Babiy, Oscar Pastor, Mario Díaz-García, Ana Toledano-Zaragoza, María Dolores Frutos, Juan Carlos Espín, Francisco A. Tomás-Barberán, Rebeca Busto, María Dolores Ledesma
Publikováno v:
Neurobiology of Disease, Vol 182, Iss , Pp 106141- (2023)
Niemann Pick diseases types A (NPDA) and C (NPDC) are lysosomal storage disorders (LSDs) leading to cognitive impairment, neurodegeneration, and early death. NPDA and NPDC have different genetic origins, being caused by mutations in the acid sphingom
Externí odkaz:
https://doaj.org/article/41ec54e488d340289457ccc81c47e41e
Autor:
Ángel Gaudioso, Pilar Moreno-Huguet, Josefina Casas, Edward H. Schuchman, María Dolores Ledesma
Publikováno v:
International Journal of Molecular Sciences, Vol 24, Iss 11, p 9756 (2023)
Acid sphingomyelinase deficiency (ASMD) is a lysosomal storage disorder caused by mutations in the gene-encoding acid sphingomyelinase (ASM). ASMD impacts peripheral organs in all patients, including the liver and spleen. The infantile and chronic ne
Externí odkaz:
https://doaj.org/article/890df6f38453443583dfc676d7378a27
Autor:
Simone M. Crivelli, Qian Luo, Jo A.A. Stevens, Caterina Giovagnoni, Daan van Kruining, Gerard Bode, Sandra den Hoedt, Barbara Hobo, Anna-Lena Scheithauer, Jochen Walter, Monique T. Mulder, Christopher Exley, Matthew Mold, Michelle M. Mielke, Helga E. De Vries, Kristiaan Wouters, Daniel L. A. van den Hove, Dusan Berkes, María Dolores Ledesma, Joost Verhaagen, Mario Losen, Erhard Bieberich, Pilar Martinez-Martinez
Publikováno v:
Alzheimer’s Research & Therapy, Vol 13, Iss 1, Pp 1-21 (2021)
Abstract Background Dysregulation of ceramide and sphingomyelin levels have been suggested to contribute to the pathogenesis of Alzheimer’s disease (AD). Ceramide transfer proteins (CERTs) are ceramide carriers which are crucial for ceramide and sp
Externí odkaz:
https://doaj.org/article/d634c5d563fa46608f8877609d288d6f
Autor:
Adrián Bartoll, Ana Toledano‐Zaragoza, Josefina Casas, Manuel Guzmán, Edward H Schuchman, María Dolores Ledesma
Publikováno v:
EMBO Molecular Medicine, Vol 12, Iss 11, Pp 1-20 (2020)
Abstract Acid sphingomyelinase deficiency (ASMD) leads to cellular accumulation of sphingomyelin (SM), neurodegeneration, and early death. Here, we describe the downregulation of the endocannabinoid (eCB) system in neurons of ASM knockout (ASM‐KO)
Externí odkaz:
https://doaj.org/article/a07b4ba9bc5b4fa6a8d2a758fb96efdc
Autor:
Miguel A. Martín-Acebes, Enrique Gabandé-Rodríguez, Ana M. García-Cabrero, Marina P. Sánchez, María Dolores Ledesma, Francisco Sobrino, Juan-Carlos Saiz
Publikováno v:
Journal of Lipid Research, Vol 57, Iss 3, Pp 422-432 (2016)
Flaviviruses, such as the dengue virus and the West Nile virus (WNV), are arthropod-borne viruses that represent a global health problem. The flavivirus lifecycle is intimately connected to cellular lipids. Among the lipids co-opted by flaviviruses,
Externí odkaz:
https://doaj.org/article/2a3bf42e65284a0691cb58738ce490e4
Autor:
Jordi Gascón-Bayarri, Petru Cristian Simon, Roser Llop, Thiago Carnaval, María Dolores Ledesma, Imma Rico, Cristina Sánchez-Castañeda, Jaume Campdelacreu-Fumadó, Nahum Calvo-Malvar, Mònica Cos, Eugenia de Lama, Montserrat Cortés-Romera, Laura Rodríguez-Bel, Celia Pérez-Sousa, María Cerdán Sánchez, Nuria Muelas, María Dolores Sevillano, Pablo Mir, Adolfo López de Munain, Anna Ferrer, Sebastián Videla
[Background] Niemann-Pick disease Type C (NPC) is a genetic, incurable, neurodegenerative disorder. This orphan disease is most frequently caused by mutations in the NPC1 protein, resulting in intralysossomal cholesterol accumulation. NPC1 is found i
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6a04d0315f0d7d73f664a47faca42569
http://hdl.handle.net/10810/59488
http://hdl.handle.net/10810/59488
Autor:
Mario Fernández-de Frutos, Virginia Pardo-Marqués, Marta Torrecilla-Parra, Patricia Rada, Ana Pérez-García, Yolanda Martín-Martín, Gema de la Peña, Ana Gómez, Ana Toledano-Zaragoza, Diego Gómez-Coronado, María José Casarejos, José M. Solís, Noemí Rotllan, Óscar Pastor, María Dolores Ledesma, Ángela M. Valverde, Rebeca Busto, Cristina M. Ramírez
Publikováno v:
Biochimica et Biophysica Acta (BBA) - Gene Regulatory Mechanisms. 1866:194938
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::667259dc451419e9297194b54b7bf664
https://doi.org/10.1016/j.bbagrm.2023.194938
https://doi.org/10.1016/j.bbagrm.2023.194938
Autor:
Simone M, Crivelli, Qian, Luo, Jo A A, Stevens, Caterina, Giovagnoni, Daan, van Kruining, Gerard, Bode, Sandra, den Hoedt, Barbara, Hobo, Anna-Lena, Scheithauer, Jochen, Walter, Monique T, Mulder, Christopher, Exley, Matthew, Mold, Michelle M, Mielke, Helga E, De Vries, Kristiaan, Wouters, Daniel L A, van den Hove, Dusan, Berkes, María Dolores, Ledesma, Joost, Verhaagen, Mario, Losen, Erhard, Bieberich, Pilar, Martinez-Martinez
Publikováno v:
Alzheimer's Research & Therapy
Background Dysregulation of ceramide and sphingomyelin levels have been suggested to contribute to the pathogenesis of Alzheimer’s disease (AD). Ceramide transfer proteins (CERTs) are ceramide carriers which are crucial for ceramide and sphingomyel
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::64460b0a220f2fa5a6f2551130a44fa6
https://pubmed.ncbi.nlm.nih.gov/33597019
https://pubmed.ncbi.nlm.nih.gov/33597019