Works by Vernia, Santiago

Results: 21

A Very Rare Variant in SREBF2 , a Possible Cause of Hypercholesterolemia and Increased Glycemic Levels.

Published in:

Biomedicines, 2022, v. 10, n. 5, p. 1178, doi. 10.3390/biomedicines10051178

By:

García-García, Ana-Bárbara;
Martínez-Hervás, Sergio;
Vernia, Santiago;
Ivorra, Carmen;
Pulido, Inés;
Martín-Escudero, Juan-Carlos;
Casado, Marta;
Carretero, Julián;
Real, José T.;
Chaves, Felipe Javier

Publication type:

Article

Detection of senescence using machine learning algorithms based on nuclear features.

Published in:

Nature Communications, 2024, v. 15, n. 1, p. 1, doi. 10.1038/s41467-024-45421-w

By:

Duran, Imanol;
Pombo, Joaquim;
Sun, Bin;
Gallage, Suchira;
Kudo, Hiromi;
McHugh, Domhnall;
Bousset, Laura;
Barragan Avila, Jose Efren;
Forlano, Roberta;
Manousou, Pinelopi;
Heikenwalder, Mathias;
Withers, Dominic J.;
Vernia, Santiago;
Goldin, Robert D.;
Gil, Jesús

Publication type:

Article

A New PCSK9 Gene Promoter Variant Affects Gene Expression and Causes Autosomal Dominant Hypercholesterolemia.

Published in:

Journal of Clinical Endocrinology & Metabolism, 2008, v. 93, n. 9, p. 3577, doi. 10.1210/jc.2008-0269

By:

Blesa, Sebastian;
Vernia, Santiago;
Garcia-Garcia, Ana-Barbara;
Martinez-Hervas, Sergio;
Ivorra, Carmen;
Gonzalez-Albert, Veronica;
Ascaso, Juan Francisco;
Martín-Escudero, Juan Carlos;
Real, Jose Tomas;
Carmena, Rafael;
Casado, Marta;
Chaves, Felipe Javier

Publication type:

Article

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

Published in:

Human Mutation, 2006, v. 27, n. 2, p. 212, doi. 10.1002/humu.9397

By:

Vernia, Santiago;
Eberlé, Delphine;
Mijares, Antonio Hernandez;
Foufelle, Fabienne;
Casado, Marta

Publication type:

Article

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

Published in:

Nature Communications, 2016, v. 7, n. 4, p. 11365, doi. 10.1038/ncomms11365

By:

Tang, Yuefeng;
Wallace, Martina;
Sanchez-Gurmaches, Joan;
Hsiao, Wen-Yu;
Li, Huawei;
Lee, Peter L.;
Vernia, Santiago;
Metallo, Christian M.;
Guertin, David A.

Publication type:

Article

Inactivation of nuclear GSK3β by Ser389 phosphorylation promotes lymphocyte fitness during DNA double-strand break response.

Published in:

Nature Communications, 2016, v. 7, n. 1, p. 10553, doi. 10.1038/ncomms10553

By:

Thornton, Tina M.;
Delgado, Pilar;
Chen, Liang;
Salas, Beatriz;
Krementsov, Dimitry;
Fernandez, Miriam;
Vernia, Santiago;
Davis, Roger J.;
Heimann, Ruth;
Teuscher, Cory;
Krangel, Michael S.;
Ramiro, Almudena R.;
Rincón, Mercedes

Publication type:

Article

Role of the MAPK/cJun NH2-terminal kinase signaling pathway in starvation-induced autophagy.

Published in:

Autophagy, 2018, v. 14, n. 9, p. 1586, doi. 10.1080/15548627.2018.1466013

By:

Barutcu, Seda Avcioglu;
Girnius, Nomeda;
Vernia, Santiago;
Davis, Roger J.

Publication type:

Article

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; 8:701-3.

Published in:

Autophagy, 2012, v. 8, n. 7, p. 1163, doi. 10.4161/auto.21428

By:

Knecht, Erwin;
Criado-García, Olga;
Aguado, Carmen;
Gayarre, Javier;
Duran-Trio, Lara;
Garcia-Cabrero, Ana M.;
Vernia, Santiago;
San Millán, Beatriz;
Heredia, Miguel;
Romá-Mateo, Carlos;
Mouron, Silvana;
Juana-López, Lucía;
Dominguez, Mercedes;
Navarro, Carmen;
Serratosa, Jose M.;
Sanchez, Marina;
Sanz, Pascual;
Bovolenta, Paola;
Rodríguez de Córdoba, Santiago

Publication type:

Article

Malin knockout mice support a primary role of autophagy in the pathogenesis of Lafora disease.

Published in:

Autophagy, 2012, v. 8, n. 4, p. 701, doi. 10.4161/auto.19522

By:

Knecht, Erwin;
Criado-García, Olga;
Aguado, Carmen;
Gayarre, Javier;
Duran-Trio, Lara;
Garcia-Cabrero, Ana M.;
Vernia, Santiago;
Millán, Beatriz San;
Heredia, Miguel;
Romá-Mateo, Carlos;
Mouron, Silvana;
Juana-López, Lucía;
Dominguez, Mercedes;
Navarro, Carmen;
Serratosa, Jose M.;
Sanchez, Marina;
Sanz, Pascual;
Bovolenta, Paola;
óDe Cordoba, Santiago Rodriguez

Publication type:

Article

Impaired autophagy in Lafora disease.

Published in:

Autophagy, 2010, v. 6, n. 7, p. 991, doi. 10.4161/auto.6.7.13308

By:

Knecht, Erwin;
Aguado, Carmen;
Sarkar, Sovan;
Korolchuk, Viktor I.;
Criado-García, Olga;
Vernia, Santiago;
Boya, Patricia;
Sanz, Pascual;
de Córdoba, Santiago Rodríguez;
Rubinsztein, David C.

Publication type:

Article

Lafora progressive myoclonus epilepsy: NHLRC1 mutations affect glycogen metabolism.

Published in:

Journal of Molecular Medicine, 2011, v. 89, n. 9, p. 915, doi. 10.1007/s00109-011-0758-y

By:

Couarch, Philippe;
Vernia, Santiago;
Gourfinkel-An, Isabelle;
Lesca, Gaëtan;
Gataullina, Svetlana;
Fedirko, Estelle;
Trouillard, Oriane;
Depienne, Christel;
Dulac, Olivier;
Steschenko, Dominique;
Leguern, Eric;
Sanz, Pascual;
Baulac, Stéphanie

Publication type:

Article

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

Published in:

Nucleic Acids Research, 2022, v. 50, n. 6, p. 3379, doi. 10.1093/nar/gkac165

By:

Jobbins, Andrew M;
Haberman, Nejc;
Artigas, Natalia;
Amourda, Christopher;
Paterson, Helen A B;
Yu, Sijia;
Blackford, Samuel J I;
Montoya, Alex;
Dore, Marian;
Wang, Yi-Fang;
Sardini, Alessandro;
Cebola, Inês;
Zuber, Johannes;
Rashid, Sheikh Tamir;
Lenhard, Boris;
Vernia, Santiago

Publication type:

Article

A PTG Variant Contributes to a Milder Phenotype in Lafora Disease.

Published in:

PLoS ONE, 2011, v. 6, n. 6, p. 1, doi. 10.1371/journal.pone.0021294

By:

Guerrero, Rosa;
Vernia, Santiago;
Sanz, Raúl;
Abreu-Rodríguez, Irene;
Almaraz, Carmen;
García-Hoyo, María;
Michelucci, Roberto;
Tassinari, Carlo Alberto;
Riguzzi, Patrizia;
Nobile, Carlo;
Sanz, Pascual;
Serratosa, José M.;
Gómez-Garre, Pilar

Publication type:

Article

Increased Endoplasmic Reticulum Stress and Decreased Proteasomal Function in Lafora Disease Models Lacking the Phosphatase Laforin.

Published in:

PLoS ONE, 2009, v. 4, n. 6, p. 1, doi. 10.1371/journal.pone.0005907

By:

Vernia, Santiago;
Rubio, Teresa;
Heredia, Miguel;
de Córdoba, Santiago Rodríguez;
Sanz, Pascual

Publication type:

Article

An alternative splicing program promotes adipose tissue thermogenesis.

Published in:

eLife, 2016, p. 1, doi. 10.7554/eLife.17672

By:

Santiago Vernia;
Edwards, Yvonne J. K.;
Myoung Sook Han;
Cavanagh-Kyros, Julie;
Barrett, Tamera;
Kim, Jason K.;
Davis, Roger J.

Publication type:

Article

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

Published in:

eLife, 2016, p. 1, doi. 10.7554/eLife.10031

By:

Vernia, Santiago;
Morel, Caroline;
Madara, Joseph C.;
Cavanagh-Kyros, Julie;
Barrett, Tamera;
Chase, Kathryn;
Kennedy, Norman J.;
Dae Young Jung;
Kim, Jason K.;
Aronin, Neil;
Flavell, Richard A.;
Lowell, Bradford B.;
Davis, Roger J.

Publication type:

Article

Lafora bodies and neurological defects in malin-deficient mice correlate with impaired autophagy.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 19, p. 4366, doi. 10.1093/hmg/dds291

By:

Criado, Olga;
Aguado, Carmen;
Gayarre, Javier;
Duran-Trio, Lara;
Garcia-Cabrero, Ana M.;
Vernia, Santiago;
Millán, Beatriz San;
Heredia, Miguel;
Romá-Mateo, Carlos;
Mouron, Silvana;
Juana-López, Lucía;
Domínguez, Mercedes;
Navarro, Carmen;
Serratosa, Jose M.;
Sanchez, Marina;
Sanz, Pascual;
Bovolenta, Paola;
Knech, Erwin;
de Cordoba, Santiago Rodriguez

Publication type:

Article

Lafora bodies and neurological defects in malin-deficient mice correlate with impaired autophagy.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 7, p. 1521, doi. 10.1093/hmg/ddr590

By:

Criado, Olga;
Aguado, Carmen;
Gayarre, Javier;
Duran-Trio, Lara;
Garcia-Cabrero, Ana M.;
Vernia, Santiago;
San Millán, Beatriz;
Heredia, Miguel;
Romá-Mateo, Carlos;
Mouron, Silvana;
Juana-López, Lucía;
Domínguez, Mercedes;
Navarro, Carmen;
Serratosa, Jose M.;
Sanchez, Marina;
Sanz, Pascual;
Bovolenta, Paola;
Knecht, Erwin;
Rodriguez de Cordoba, Santiago

Publication type:

Article

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

Published in:

Human Molecular Genetics, 2011, v. 20, n. 13, p. 2571, doi. 10.1093/hmg/ddr157

By:

Vernia, Santiago;
Heredia, Miguel;
Criado, Olga;
Rodriguez de Cordoba, Santiago;
Garcia-Roves, Pablo M.;
Cansell, Céline;
Denis, Raphael;
Luquet, Serge;
Foufelle, Fabienne;
Ferre, Pascal;
Sanz, Pascual

Publication type:

Article

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

Published in:

Human Molecular Genetics, 2010, v. 19, n. 14, p. 2867, doi. 10.1093/hmg/ddq190

By:

Aguado, Carmen;
Sarkar, Sovan;
Korolchuk, Viktor I.;
Criado, Olga;
Vernia, Santiago;
Boya, Patricia;
Sanz, Pascual;
de Córdoba, Santiago Rodríguez;
Knecht, Erwin;
Rubinsztein, David C.

Publication type:

Article

Widespread 3′UTR capped RNAs derive from G-rich regions in proximity to AGO2 binding sites.

Published in:

BMC Biology, 2024, v. 22, n. 1, p. 1, doi. 10.1186/s12915-024-02032-7

By:

Haberman, Nejc;
Digby, Holly;
Faraway, Rupert;
Cheung, Rebecca;
Chakrabarti, Anob M.;
Jobbins, Andrew M.;
Parr, Callum;
Yasuzawa, Kayoko;
Kasukawa, Takeya;
Yip, Chi Wai;
Kato, Masaki;
Takahashi, Hazuki;
Carninci, Piero;
Vernia, Santiago;
Ule, Jernej;
Sibley, Christopher R.;
Martinez-Sanchez, Aida;
Lenhard, Boris

Publication type:

Article

Works by Vernia, Santiago

A Very Rare Variant in SREBF2 , a Possible Cause of Hypercholesterolemia and Increased Glycemic Levels.

Detection of senescence using machine learning algorithms based on nuclear features.

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.

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

Inactivation of nuclear GSK3β by Ser<sup>389</sup> phosphorylation promotes lymphocyte fitness during DNA double-strand break response.

Role of the MAPK/cJun NH<sub>2</sub>-terminal kinase signaling pathway in starvation-induced autophagy.

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; 8:701-3.

Malin knockout mice support a primary role of autophagy in the pathogenesis of Lafora disease.

Impaired autophagy in Lafora disease.

Lafora progressive myoclonus epilepsy: NHLRC1 mutations affect glycogen metabolism.

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

A PTG Variant Contributes to a Milder Phenotype in Lafora Disease.

Increased Endoplasmic Reticulum Stress and Decreased Proteasomal Function in Lafora Disease Models Lacking the Phosphatase Laforin.

An alternative splicing program promotes adipose tissue thermogenesis.

Excitatory transmission onto AgRP neurons is regulated by cJun NH<sub>2</sub>- terminal kinase 3 in response to metabolic stress.

Lafora bodies and neurological defects in malin-deficient mice correlate with impaired autophagy.

Lafora bodies and neurological defects in malin-deficient mice correlate with impaired autophagy.

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.

Widespread 3′UTR capped RNAs derive from G-rich regions in proximity to AGO2 binding sites.