TRASTORNOS CONGÉNITOS DEL METABOLISMO
Publicaciones (124) Publicaciones en las que ha participado algún/a investigador/a
2024
-
Anti-miR-873-5p improves alcohol-related liver disease by enhancing hepatic deacetylation via SIRT1
JHEP Reports, Vol. 6, Núm. 1
-
Description of clinical and genetic features of 122 patients included in the Spanish Pompe registry
Neuromuscular Disorders, Vol. 34, pp. 1-8
-
Hypomagnesaemia with varying degrees of extrarenal symptoms as a consequence of heterozygous CNNM2 variants
Scientific Reports, Vol. 14, Núm. 1
-
Metallothionein-3 is a multifunctional driver that modulates the development of sorafenib-resistant phenotype in hepatocellular carcinoma cells
Biomarker Research, Vol. 12, Núm. 1
-
Neddylation inhibition prevents acetaminophen-induced liver damage by enhancing the anabolic cardiolipin pathway
Cell Reports Medicine, Vol. 5, Núm. 7
-
Spatial metabolomics and its application in the liver
Hepatology, Vol. 79, Núm. 5, pp. 1158-1179
-
The lipopolysaccharide-TLR4 axis regulates hepatic glutaminase 1 expression promoting liver ammonia build-up as steatotic liver disease progresses to steatohepatitis
Metabolism: Clinical and Experimental, Vol. 158
-
Twice weekly dosing with Sebelipase alfa (Kanuma®) rescues severely ill infants with Wolman disease
Orphanet Journal of Rare Diseases, Vol. 19, Núm. 1
2023
-
Correction: Vitamin C and folate status in hereditary fructose intolerance (European Journal of Clinical Nutrition, (2022), 76, 12, (1733-1739), 10.1038/s41430-022-01178-3)
European Journal of Clinical Nutrition
-
Enhanced mitochondrial activity reshapes a gut microbiota profile that delays NASH progression
Hepatology, Vol. 77, Núm. 5, pp. 1654-1669
-
Hepatic levels of S-adenosylmethionine regulate the adaptive response to fasting
Cell Metabolism, Vol. 35, Núm. 8, pp. 1373-1389.e8
-
Isolation of the Hepatic Ubiquitome/NEDDylome by Streptavidin Pull-Down Assay in the Biotinylated Ubiquitin (bioUb)/Biotinylated NEDD8 (bioNEDD8) Transgenic Mice
Methods in Molecular Biology (Humana Press Inc.), pp. 151-162
-
Limitación a la elevación de hombros como forma de presentación de mucopolisacaridosis: a propósito de un caso
Boletín de la Sociedad Vasco-Navarra de pediatría = Euskal Herriko Pediatria Elkartearen aldizkaria, Núm. 124, pp. 100-100
-
Neddylation of phosphoenolpyruvate carboxykinase 1 controls glucose metabolism
Cell Metabolism, Vol. 35, Núm. 9, pp. 1630-1645.e5
-
The outcome of boosting mitochondrial activity in alcohol-associated liver disease is organ-dependent
Hepatology (Baltimore, Md.), Vol. 78, Núm. 3, pp. 878-895
2022
-
A Shortcut from Metabolic-Associated Fatty Liver Disease (MAFLD) to Hepatocellular Carcinoma (HCC): c-MYC a Promising Target for Preventative Strategies and Individualized Therapy
Cancers, Vol. 14, Núm. 1
-
Current clinical spectrum of common variable immunodeficiency in Spain: The multicentric nationwide GTEM-SEMI-CVID registry
Frontiers in Immunology, Vol. 13
-
Hu Antigen R (HuR) Protein Structure, Function and Regulation in Hepatobiliary Tumors
Cancers, Vol. 14, Núm. 11
-
Inhibition of ATG3 ameliorates liver steatosis by increasing mitochondrial function
Journal of Hepatology, Vol. 76, Núm. 1, pp. 11-24
-
Inhibition of carnitine palmitoyltransferase 1A in hepatic stellate cells protects against fibrosis
Journal of Hepatology, Vol. 77, Núm. 1, pp. 15-28