Výsledky vyhledávání

Preclinical Research in Glycogen Storage Diseases: A Comprehensive Review of Current Animal Models

Autor: Almodovar-Paya, A, Villarreal-Salazar, M, de Luna, N, Nogales-Gadea, G, Real-Martinez, A, Andreu, AL, Martin, MA, Arenas, J, Lucia, A, Vissing, J, Krag, T, Pinos, T

Publikováno v: INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname
International Journal of Molecular Sciences
r-IGTP. Repositorio Institucional de Producción Científica del Instituto de Investigación Germans Trias i Pujol

GSD are a group of disorders characterized by a defect in gene expression of specific enzymes involved in glycogen breakdown or synthesis, commonly resulting in the accumulation of glycogen in various tissues (primarily the liver and skeletal muscle)

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::186ddfd3677b883df8fdb04521c094a1
https://iibsantpau.fundanetsuite.com/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=11762

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Akademický článek

A fast and inexpensive genotyping system for the simultaneous analysis of human and Aedes albopictus short tandem repeats

Autor: Andreu Albó Timor, Federica Lucati, Frederic Bartumeus, Jenny Caner, Santi Escartin, Simone Mariani, John R. B. Palmer, Marc Ventura

Publikováno v: Parasites & Vectors, Vol 16, Iss 1, Pp 1-14 (2023)

Abstract Background Determination of the interactions between hematophagous mosquitoes and their human hosts is of great importance for better understanding the transmission dynamics of mosquito-borne arboviruses and developing effective strategies t

Externí odkaz: https://doaj.org/article/55e1f29f09d04066b1c13a6e06bde137

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Missense mutations have unexpected consequences: The McArdle disease paradigm

Autor: Garcia-Consuegra, I, Asensio-Pena, S, Ballester-Lopez, A, Francisco-Velilla, R, Pinos, T, Pintos-Morell, G, Coll-Canti, J, Gonzalez-Quintana, A, Andreu, AL, Arenas, J, Lucia, A, Nogales-Gadea, G, Martin, MA

Publikováno v: Human Mutation
r-IGTP. Repositorio Institucional de Producción Científica del Instituto de Investigación Germans Trias i Pujol
instname

McArdle disease is a disorder of muscle glycogen metabolism caused by mutations in the PYGM gene, encoding for the muscle-specific isoform of glycogen phosphorylase (M-GP). The activity of this enzyme is completely lost in patients' muscle biopsies,

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=RECOLECTA___::5a87ef6449efebad654cfcb7c4a7e43e
https://fundanet.igtp.cat/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=5444

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Akademický článek

Multiple invasions, Wolbachia and human-aided transport drive the genetic variability of Aedes albopictus in the Iberian Peninsula

Autor: Federica Lucati, Sarah Delacour, John R.B. Palmer, Jenny Caner, Aitana Oltra, Claudia Paredes-Esquivel, Simone Mariani, Santi Escartin, David Roiz, Francisco Collantes, Mikel Bengoa, Tomàs Montalvo, Juan Antonio Delgado, Roger Eritja, Javier Lucientes, Andreu Albó Timor, Frederic Bartumeus, Marc Ventura

Publikováno v: Scientific Reports, Vol 12, Iss 1, Pp 1-15 (2022)

Abstract The Asian tiger mosquito, Aedes albopictus, is one of the most invasive species in the world. Native to the tropical forests of Southeast Asia, over the past 30 years it has rapidly spread throughout tropical and temperate regions of the wor

Externí odkaz: https://doaj.org/article/b00a140563be46029a243a61267109e9

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Association between Obstructive Sleep Apnea and Community-Acquired Pneumonia

Autor: Chiner E, Llombart M, Valls J, Pastor E, Sancho-Chust JN, Andreu AL, Sanchez-de-la-Torre M, Barbe F

Publikováno v: PLoS One
r-FISABIO. Repositorio Institucional de Producción Científica
instname
r-FISABIO: Repositorio Institucional de Producción Científica
Fundación para el Fomento de la Investigación Sanitaria y Biomédica de la Comunitat Valenciana (FISABIO)

Background We hypothesized that obstructive sleep apnea (OSA) can predispose individuals to lower airway infections and community-acquired pneumonia (CAP) due to upper airway microaspiration. This study evaluated the association between OSA and CAP.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::028d8794fb76e5a270f0a6ac01480eed
https://fundanet.fisabio.san.gva.es/publicaciones/ProdCientif/PublicacionFrw.aspx?id=2283

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Identification of the novel mutation m.5658T > C in the mitochondrial tRNA(Asn) gene in a patient with myopathy, bilateral ptosis and ophthalmoparesis

Autor: Pinos, T, Melia, MJ, Ortiz, N, Martinez-Vea, A, Raventos-Estelle, A, Gallardo, E, Hernandez-Losa, J, Camara, Y, Andreu, AL, Garcia-Arumi, E

Publikováno v: NEUROMUSCULAR DISORDERS
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname

We report a heteroplasmic novel mutation m.5658T>C in the mt-tRNA(Asn) gene in a patient who initially presented myopathy, bilateral ptosis and ophthalmoparesis and several years later developed a non-nephrotic proteinuria. The muscle biopsy showed c

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=RECOLECTA___::ac9cb12c2c7b303f83b1f6f516dc64cd
https://iibsantpau.fundanetsuite.com/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=10112

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Limb-girdle muscular dystrophy 1F is caused by a microdeletion in the transportin 3 gene

Autor: Melià MJ, Kubota A, Ortolano S, Vílchez JJ, Gámez J, Tanji K, Bonilla E, Palenzuela L, Fernández-Cadenas I, Pristoupilová A, García-Arumí E, Andreu AL, Navarro C, Hirano M, Martí R

Publikováno v: BRAIN
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname

In 2001, we reported linkage of an autosomal dominant form of limb-girdle muscular dystrophy, limb-girdle muscular dystrophy 1F, to chromosome 7q32.1-32.2, but the identity of the mutant gene was elusive. Here, using a whole genome sequencing strateg

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=RECOLECTA___::5e114a658a730ab618dac0362a7fb297
https://fundanet.iislafe.san.gva.es/publicaciones/ProdCientif/PublicacionFrw.aspx?id=1744

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Functional outcome of a novel SLC29A3 mutation identified in a patient with H syndrome

Autor: Huber-Ruano I, Errasti-Murugarren E, Godoy V, Vera Á, Andreu AL, Garcia-Arumi E, Martí R, Pastor-Anglada M

Publikováno v: BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname

The H syndrome (OMIM 612391) is an autosomal recessive disorder characterized by hyperpigmentation, hypertrichosis, histiocytosis and short stature. It is caused by mutations in the SLC29A3 gene, which encodes for the equilibrative nucleoside transpo

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::9a1158d350b6358fbef6a7231e973dbb
http://fundanet.fsjd.org/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=11817

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