List of works - Santiago Vernia

A new PCSK9 gene promoter variant affects gene expression and causes autosomal dominant hypercholesterolemia.

scientific article

A rare missense mutation in a type 2 diabetes patient decreases the transcriptional activity of human sterol regulatory element binding protein-1.

scientific article published in February 2006

AMP-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 complex

scientific article

Adipose tissue mTORC2 regulates ChREBP-driven de novo lipogenesis and hepatic glucose metabolism

scientific article published on 21 April 2016

An alternative splicing program promotes adipose tissue thermogenesis

scientific article published on 16 September 2016

Diet-induced obesity mediated by the JNK/DIO2 signal transduction pathway

scientific article

Differential sensitivity of rat hepatocyte CYP isoforms to self-generated nitric oxide.

scientific article

Dysregulated RNA polyadenylation contributes to metabolic impairment in non-alcoholic fatty liver disease

scientific article published on 01 April 2022

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.

scientific article published in July 2012

Excitatory transmission onto AgRP neurons is regulated by cJun NH2-terminal kinase 3 in response to metabolic stress

scientific article published on 24 February 2016

Fibroblast Growth Factor 21 Mediates Glycemic Regulation by Hepatic JNK

scientific article published on 2 March 2016

Hyper- and hypo- nutrition studies of the hepatic transcriptome and epigenome suggest that PPARα regulates anaerobic glycolysis

scientific article

Identification of a novel Pfkfb1 mRNA variant in rat fetal liver.

scientific article published on 3 January 2013

Impaired autophagy in Lafora disease

scientific article

Inactivation of nuclear GSK3β by Ser(389) phosphorylation promotes lymphocyte fitness during DNA double-strand break response

scientific article published on 29 January 2016

Increased endoplasmic reticulum stress and decreased proteasomal function in lafora disease models lacking the phosphatase laforin

scientific article

Lafora disease E3-ubiquitin ligase malin is related to TRIM32 at both the phylogenetic and functional level

scientific article

Lafora progressive myoclonus epilepsy: NHLRC1 mutations affect glycogen metabolism

scientific article

Laforin, a dual specificity phosphatase involved in Lafora disease, regulates insulin response and whole-body energy balance in mice.

scientific article published on 14 April 2011

Laforin, the most common protein mutated in Lafora disease, regulates autophagy

scientific article

Role of the MAPK/cJun NH-terminal kinase signaling pathway in starvation-induced autophagy

scientific article published on 17 August 2018

Selective role of sterol regulatory element binding protein isoforms in aggregated LDL-induced vascular low density lipoprotein receptor-related protein-1 expression.

scientific article published on 8 October 2010

Sumoylation of AMPKβ2 subunit enhances AMP-activated protein kinase activity.

scientific article published on 3 April 2013

List of works by Santiago Vernia

A new PCSK9 gene promoter variant affects gene expression and causes autosomal dominant hypercholesterolemia.

A rare missense mutation in a type 2 diabetes patient decreases the transcriptional activity of human sterol regulatory element binding protein-1.

AMP-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 complex

Adipose tissue mTORC2 regulates ChREBP-driven de novo lipogenesis and hepatic glucose metabolism

An alternative splicing program promotes adipose tissue thermogenesis

Diet-induced obesity mediated by the JNK/DIO2 signal transduction pathway

Differential sensitivity of rat hepatocyte CYP isoforms to self-generated nitric oxide.

Dysregulated RNA polyadenylation contributes to metabolic impairment in non-alcoholic fatty liver disease

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.

Excitatory transmission onto AgRP neurons is regulated by cJun NH2-terminal kinase 3 in response to metabolic stress

Fibroblast Growth Factor 21 Mediates Glycemic Regulation by Hepatic JNK

Hyper- and hypo- nutrition studies of the hepatic transcriptome and epigenome suggest that PPARα regulates anaerobic glycolysis

Identification of a novel Pfkfb1 mRNA variant in rat fetal liver.

Impaired autophagy in Lafora disease

Inactivation of nuclear GSK3β by Ser(389) phosphorylation promotes lymphocyte fitness during DNA double-strand break response

Increased endoplasmic reticulum stress and decreased proteasomal function in lafora disease models lacking the phosphatase laforin

Lafora disease E3-ubiquitin ligase malin is related to TRIM32 at both the phylogenetic and functional level

Lafora progressive myoclonus epilepsy: NHLRC1 mutations affect glycogen metabolism

Laforin, a dual specificity phosphatase involved in Lafora disease, regulates insulin response and whole-body energy balance in mice.

Laforin, the most common protein mutated in Lafora disease, regulates autophagy

Role of the MAPK/cJun NH-terminal kinase signaling pathway in starvation-induced autophagy

Selective role of sterol regulatory element binding protein isoforms in aggregated LDL-induced vascular low density lipoprotein receptor-related protein-1 expression.

Sumoylation of AMPKβ2 subunit enhances AMP-activated protein kinase activity.