Výsledky vyhledávání

Mitochondrial Dynamics and Mitochondria-Lysosome Contacts in Neurogenetic Diseases

Autor: Pijuan J, Cantarero-Abad L, Natera-de Benito D, Altimir A, Altisent-Huguet A, Díaz-Osorio Y, Carrera-García L, Expósito-Escudero J, Ortez-Gonzalez CI, Nascimento-Osorio A, Hoenicka J, Palau F

Publikováno v: FRONTIERS IN NEUROSCIENCE
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
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Mitochondrial network is constantly in a dynamic and regulated balance of fusion and fission processes, which is known as mitochondrial dynamics. Mitochondria make physical contacts with almost every other membrane in the cell thus impacting cellular

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=RECOLECTA___::bdaa50c325153c7e1b40089d64e02593
http://fundanet.fsjd.org/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=20827

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The p.Glu787Lys variant in the GRIA3 gene causes developmental and epileptic encephalopathy mimicking structural epilepsy in a female patient

Autor: Martinez-Esteve Melnikova A, Pijuan J, Aparicio J, Ramírez-Camacho A, Altisent-Huguet A, Vilanova-Adell A, Arzimanoglou Alexandros, Armstrong-Moron J, Palau F, Hoenicka J, San Antonio-Arce MV

Publikováno v: EUROPEAN JOURNAL OF MEDICAL GENETICS
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
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The GRIA3 gene is located in the X chromosome and encodes for one of the subunits (iGluR3) of the alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid receptor (AMPAR), an excitatory synaptic transmission receptor present in most parts of the bra

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=RECOLECTA___::9bddcd02ab6e5ad0b26d6553ab072031
http://fundanet.fsjd.org/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=20726

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The Increasing Impact of Translational Research in the Molecular Diagnostics of Neuromuscular Diseases

Autor: Yubero-Siles D, Natera-de Benito D, Pijuan J, Armstrong-Moron J, Martorell-Sampol L, Fernàndez G, Joan Maynou Fernández, Jou-Munoz C, Roldan M, Ortez-Gonzalez CI, Nascimento-Osorio A, Hoenicka J, Palau F

Publikováno v: INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname

The diagnosis of neuromuscular diseases (NMDs) has been progressively evolving from the grouping of clinical symptoms and signs towards the molecular definition. Optimal clinical, biochemical, electrophysiological, electrophysiological, and histopath

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=RECOLECTA___::3c91137b738a4518ce9b19b066a13f79
http://fundanet.fsjd.org/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=19453

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PLXNA2 and LRRC40 as candidate genes in autism spectrum disorder

Autor: Pijuan J, Ortigoza-Escobar JD, Juan Jairo Ortiz Guerra, Alcalá A, Calvo MJ, Cubells M, Hernando-Davalillo C, Palau F, Hoenicka J

Publikováno v: AUTISM RESEARCH
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu

Autism spectrum disorder (ASD) is a neurodevelopmental disability with high heritability yet the genetic etiology remains elusive. Therefore, it is necessary to elucidate new genotype-phenotype relationships for ASD to improve both the etiological kn

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::149d95b4cf024d43d5c0d7b582da6442
http://fundanet.fsjd.org/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=19308

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Profiling the physiological pitfalls of anti-hepatitis C direct-acting agents in budding yeast

Autor: Yahya G, Hashem Mohamed N, Pijuan J, Seleem NM, Mosbah R, Hess S, Abdelmoaty AA, Almeer R, Abdel-Daim MM, Shulaywih Alshaman H, Juraiby I, Metwally K, Storchova Z

Publikováno v: Microbial Biotechnology
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
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Sofosbuvir and Daclatasvir are among the direct-acting antiviral (DAA) medications prescribed for the treatment of chronic hepatitis C (CHC) virus infection as combination therapy with other antiviral medications. DAA-based therapy achieves high cure

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=RECOLECTA___::3dee206ad022498e409798d3ef6ac5f4
http://fundanet.fsjd.org/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=19958

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Translational Diagnostics: An In-House Pipeline to Validate Genetic Variants in Children with Undiagnosed and Rare Diseases

Autor: Pijuan J, Rodríguez-Sanz M, Natera-de Benito D, Ortez-Gonzalez CI, Altimir A, Osuna-Lopez M, Roura-Llerda M, Ugalde M, Van de Vondel L, Reina-Castillon J, Fons-Estupina C, Benítez R, Nascimento-Osorio A, Hoenicka J, Palau F

Publikováno v: JOURNAL OF MOLECULAR DIAGNOSTICS
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

Diagnosis is essential for the management and treatment of patients with rare diseases. In a group of patients, the genetic study identifies variants of uncertain significance or inconsistent with the phenotype; therefore, it is urgent to develop nov

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::489b9038d112db2f1a9a3439a5d99060
http://fundanet.fsjd.org/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=18451

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