about
Lafora progressive myoclonus epilepsy: NHLRC1 mutations affect glycogen metabolismLaforin, the most common protein mutated in Lafora disease, regulates autophagyAMP-activated protein kinase phosphorylates R5/PTG, the glycogen targeting subunit of the R5/PTG-protein phosphatase 1 holoenzyme, and accelerates its down-regulation by the laforin-malin complexDifferential sensitivity of rat hepatocyte CYP isoforms to self-generated nitric oxide.Increased endoplasmic reticulum stress and decreased proteasomal function in lafora disease models lacking the phosphatase laforinHyper- and hypo- nutrition studies of the hepatic transcriptome and epigenome suggest that PPARα regulates anaerobic glycolysisLafora disease E3-ubiquitin ligase malin is related to TRIM32 at both the phylogenetic and functional levelImpaired autophagy in Lafora diseaseInactivation of nuclear GSK3β by Ser(389) phosphorylation promotes lymphocyte fitness during DNA double-strand break responseFibroblast Growth Factor 21 Mediates Glycemic Regulation by Hepatic JNKExcitatory transmission onto AgRP neurons is regulated by cJun NH2-terminal kinase 3 in response to metabolic stress.Adipose tissue mTORC2 regulates ChREBP-driven de novo lipogenesis and hepatic glucose metabolismSumoylation of AMPKβ2 subunit enhances AMP-activated protein kinase activity.An alternative splicing program promotes adipose tissue thermogenesisDiet-induced obesity mediated by the JNK/DIO2 signal transduction pathwayLaforin, a dual specificity phosphatase involved in Lafora disease, regulates insulin response and whole-body energy balance in mice.A new PCSK9 gene promoter variant affects gene expression and causes autosomal dominant hypercholesterolemia.Identification of a novel Pfkfb1 mRNA variant in rat fetal liver.Erratum to: Knecht E, Criado-García O, Aguado C, Gayarre J, Duran-Trio L, Garcia-Cabrero AM, et al. Malin knockout mice support a primary role of autophagy in the pathogenesis of Lafora disease. Autophagy 2012; 8.A rare missense mutation in a type 2 diabetes patient decreases the transcriptional activity of human sterol regulatory element binding protein-1.Selective role of sterol regulatory element binding protein isoforms in aggregated LDL-induced vascular low density lipoprotein receptor-related protein-1 expression.Role of the MAPK/cJun NH-terminal kinase signaling pathway in starvation-induced autophagy
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P50
description
researcher
@en
wetenschapper
@nl
հետազոտող
@hy
name
Santiago Vernia
@ast
Santiago Vernia
@en
Santiago Vernia
@es
Santiago Vernia
@nl
type
label
Santiago Vernia
@ast
Santiago Vernia
@en
Santiago Vernia
@es
Santiago Vernia
@nl
prefLabel
Santiago Vernia
@ast
Santiago Vernia
@en
Santiago Vernia
@es
Santiago Vernia
@nl
P108
P106
P108
P21
P31
P496
0000-0001-6728-5555