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Artículo
The cannabinoid ligand LH-21 reduces anxiety and improves glucose handling in diet-induced obese pre-diabetic mice
(Nature Publishing Group, 2017)
LH-21 is a triazol derivative that has been described as a low-permeant neutral CB1 antagonist, though its pharmacology is still unclear. It has been associated with anti-obesity actions in obese rats. However, its role ...
Artículo
Zim17/Tim15 links mitochondrial iron–sulfur cluster biosynthesis to nuclear genome stability
(Oxford University Press, 2011)
Genomic instability is related to a wide-range of human diseases. Here, we show that mitochondrial iron–sulfur cluster biosynthesis is important for the maintenance of nuclear genome stability in Saccharomyces cerevisiae. ...
Artículo
FANCD2 maintains replication fork stability during misincorporation of the DNA demethylation products 5-hydroxymethyl-2’-deoxycytidine and 5-hydroxymethyl-2’-deoxyuridine
(Springer Nature, 2022)
Fanconi anemia (FA) is a rare hereditary disorder caused by mutations in any one of the FANC genes. FA cells are mainly characterized by extreme hypersensitivity to interstrand crosslink (ICL) agents. Additionally, the FA ...
Artículo
Chd7 is indispensable for mammalian brain development through activation of a neuronal differentiation programme
(Nature Publishing Group, 2017)
Mutations in chromatin modifier genes are frequently associated with neurodevelopmental diseases. We herein demonstrate that the chromodomain helicase DNA-binding protein 7 (Chd7), frequently associated with CHARGE syndrome, ...
Artículo
Derivation of HVR1, HVR2 and HVR3 human embryonic stem cell lines from IVF embryos after preimplantation genetic diagnosis (PGD) for monogenic disorder
(Elsevier, 2016)
From 106 human blastocyts donate for research after in vitro fertilization (IVF) and preimplantation genetic diagnosis (PGD) for monogenetic disorder, 3 human embryonic stem cells (hESCs) HVR1, HVR2 and HVR3 were successfully ...
Artículo
Immunohistochemical assessment of Pax8 expression during pancreatic islet development and in human neuroendocrine tumors
(Springer Verlag, 2011)
The paired box transcription factor Pax8 is critical for development of the eye, thyroid gland as well as the urinary and reproductive organs. In adult, Pax8 overexpression is associated with kidney, ovarian and thyroid ...
Artículo
Conditional deletion of WT1 in the septum transversum mesenchyme causes congenital diaphragmatic hernia in mice
(eLife Sciences Publications, 2016)
Congenital diaphragmatic hernia (CDH) is a severe birth defect. Wt1-null mouse embryos develop CDH but the mechanisms regulated by WT1 are unknown. We have generated a murine model with conditional deletion of WT1 in the ...
Artículo
Structural polymorphism of amyloid fibrils in ATTR amyloidosis revealed by cryo-electron microscopy
(Nature Research, 2024-01-17)
ATTR amyloidosis is caused by the deposition of transthyretin in the form of amyloid fibrils in virtually every organ of the body, including the heart. This systemic deposition leads to a phenotypic variability that has ...
Artículo
Manganese is a physiologically relevant TORC1 activator in yeast and mammals
(eLife Sciences Publications, 2022)
The essential biometal manganese (Mn) serves as a cofactor for several enzymes that are crucial for the prevention of human diseases. Whether intracellular Mn levels may be sensed and modulate intracellular signaling events ...
Artículo
Generation of a human iPS cell line from a patient with retinitis pigmentosa due to EYS mutation
(Elsevier, 2018-11-16)
Retinitis pigmentosa (RP) is an inherited retinal degenerative disease. Mutations in EYS have been associated with autosomal recessive RP. The human iPS cell line, CABi002-A, derived from peripheral blood mononuclear cells ...