Search Results - "Szaruga, Maria"

Mechanisms of neurodegeneration — Insights from familial Alzheimer’s disease by Chávez-Gutiérrez, Lucía, Szaruga, Maria

“…The rising prevalence of Alzheimer’s disease (AD), together with the lack of effective treatments, portray it as one of the major health challenges of our…”
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Activation of the integrated stress response by inhibitors of its kinases by Szaruga, Maria, Janssen, Dino A., de Miguel, Claudia, Hodgson, George, Fatalska, Agnieszka, Pitera, Aleksandra P., Andreeva, Antonina, Bertolotti, Anne

“…Phosphorylation of the translation initiation factor eIF2α to initiate the integrated stress response (ISR) is a vital signalling event. Protein kinases…”
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Deletion of exons 9 and 10 of the Presenilin 1 gene in a patient with Early-onset Alzheimer Disease generates longer amyloid seeds by Le Guennec, Kilan, Veugelen, Sarah, Quenez, Olivier, Szaruga, Maria, Rousseau, Stéphane, Nicolas, Gaël, Wallon, David, Fluchere, Frédérique, Frébourg, Thierry, De Strooper, Bart, Campion, Dominique, Chávez-Gutiérrez, Lucía, Rovelet-Lecrux, Anne

“…Abstract Presenilin 1 ( PSEN1 ) mutations are the main cause of autosomal dominant Early-onset Alzheimer Disease (EOAD). Among them, deletions of exon 9 have…”
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Spastic paraplegia preceding PSEN1‐related familial Alzheimer's disease by Chelban, Viorica, Breza, Marianthi, Szaruga, Maria, Vandrovcova, Jana, Murphy, David, Lee, Chia‐Ju, Alikhwan, Sondos, Bourinaris, Thomas, Vavougios, George, Ilyas, Muhammad, Halim, Sobia Ahsan, Al‐Harrasi, Ahmed, Kartanou, Chrisoula, Ronald, Coras, Blumcke, Ingmar, Alexoudi, Athanasia, Gatzonis, Stylianos, Stefanis, Leonidas, Karadima, Georgia, Wood, Nicholas W., Chávez‐Gutiérrez, Lucía, Hardy, John, Houlden, Henry, Koutsis, Georgios

“…Introduction We investigated the frequency, neuropathology, and phenotypic characteristics of spastic paraplegia (SP) that precedes dementia in presenilin 1…”
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Prodromal Alzheimer's Disease: Constitutive Upregulation of Neuroglobin Prevents the Initiation of Alzheimer's Pathology by de Vidania, Silvia, Palomares-Perez, Irene, Frank-García, Ana, Saito, Takashi, Saido, Takaomi C, Draffin, Jonathan, Szaruga, María, Chávez-Gutierrez, Lucía, Calero, Miguel, Medina, Miguel, Guix, Francesc X, Dotti, Carlos G

“…In humans, a considerable number of the autopsy samples of cognitively normal individuals aged between 57 and 102 years have revealed the presence of amyloid…”
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Integrated stress response activator halofuginone protects mice from diabetes-like phenotypes by Rai, Shashank, Szaruga, Maria, Pitera, Aleksandra P, Bertolotti, Anne

“…The integrated stress response (ISR) is a vital signaling pathway initiated by four kinases, PERK, GCN2, HRI and PKR, that ensure cellular resilience and…”
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Aβ profiles generated by Alzheimer’s disease causing PSEN1 variants determine the pathogenicity of the mutation and predict age at disease onset by Petit, Dieter, Fernández, Sara Gutiérrez, Zoltowska, Katarzyna Marta, Enzlein, Thomas, Ryan, Natalie S., O’Connor, Antoinette, Szaruga, Maria, Hill, Elizabeth, Vandenberghe, Rik, Fox, Nick C., Chávez-Gutiérrez, Lucía

“…Familial Alzheimer’s disease (FAD), caused by mutations in Presenilin (PSEN1/2) and Amyloid Precursor Protein (APP ) genes, is associated with an early age at…”
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Alzheimer’s-Causing Mutations Shift Aβ Length by Destabilizing γ-Secretase-Aβn Interactions by Szaruga, Maria, Munteanu, Bogdan, Lismont, Sam, Veugelen, Sarah, Horré, Katrien, Mercken, Marc, Saido, Takaomi C., Ryan, Natalie S., De Vos, Tatjana, Savvides, Savvas N., Gallardo, Rodrigo, Schymkowitz, Joost, Rousseau, Frederic, Fox, Nick C., Hopf, Carsten, De Strooper, Bart, Chávez-Gutiérrez, Lucía

“…Alzheimer’s disease (AD)-linked mutations in Presenilins (PSEN) and the amyloid precursor protein (APP) lead to production of longer amyloidogenic Aβ peptides…”
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Qualitative changes in human γ-secretase underlie familial Alzheimer's disease by Szaruga, Maria, Veugelen, Sarah, Benurwar, Manasi, Lismont, Sam, Sepulveda-Falla, Diego, Lleo, Alberto, Ryan, Natalie S, Lashley, Tammaryn, Fox, Nick C, Murayama, Shigeo, Gijsen, Harrie, De Strooper, Bart, Chávez-Gutiérrez, Lucía

“…Presenilin (PSEN) pathogenic mutations cause familial Alzheimer's disease (AD [FAD]) in an autosomal-dominant manner. The extent to which the healthy and…”
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Cellular responses to halofuginone reveal a vulnerability of the GCN2 branch of the integrated stress response by Pitera, Aleksandra P, Szaruga, Maria, Peak‐Chew, Sew‐Yeu, Wingett, Steven W, Bertolotti, Anne

“…Halofuginone (HF) is a phase 2 clinical compound that inhibits the glutamyl‐prolyl‐tRNA synthetase (EPRS) thereby inducing the integrated stress response…”
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Trisomy of human chromosome 21 enhances amyloid-β deposition independently of an extra copy of APP by Wiseman, Frances K, Pulford, Laura J, Barkus, Chris, Liao, Fan, Portelius, Erik, Webb, Robin, Chávez-Gutiérrez, Lucia, Cleverley, Karen, Noy, Sue, Sheppard, Olivia, Collins, Toby, Powell, Caroline, Sarell, Claire J, Rickman, Matthew, Choong, Xun, Tosh, Justin L, Siganporia, Carlos, Whittaker, Heather T, Stewart, Floy, Szaruga, Maria, Murphy, Michael P, Blennow, Kaj, de Strooper, Bart, Zetterberg, Henrik, Bannerman, David, Holtzman, David M, Tybulewicz, Victor L J, Fisher, Elizabeth M C

“…Wiseman et al. show that triplication of genes other than APP is sufficient to exacerbate Aβ deposition and associated cognitive changes in a mouse model of…”
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MECHANISM SECURING ‘γ-SECRETASE-APP/Aβ’ COMPLEXES AND REGULATING Aβ LENGTH by Petit, Dieter, Szaruga, Maria, Lismont, Sam, Hitzenberger, Manuel, Zoltowska, Katarzyna Marta, Zacharias, Martin, Gutiérrez, Lucía Chávez

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O3‐01‐04: MECHANISM SECURING ‘γ‐SECRETASE‐APP/Aβ’ COMPLEXES AND REGULATING Aβ LENGTH by Petit, Dieter, Szaruga, Maria, Lismont, Sam, Hitzenberger, Manuel, Zoltowska, Katarzyna Marta, Zacharias, Martin, Gutiérrez, Lucía Chávez

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Alzheimer’s-causing mutations shift Aβ length by destabilizing γ-secretase-Aβn interactions by Szaruga, Maria, Munteanu, Bogdan, Lismont, Sam, Veugelen, Sarah, Horré, Katrien, Mercken, Marc, Saido, Takaomi C., Ryan, Natalie S., De Vos, Tatjana, Savvides, Savvas N., Gallardo, Rodrigo, Schymkowitz, Joost, Rousseau, Frederic, Fox, Nick C., Hopf, Carsten, De Strooper, Bart, Chávez-Gutiérrez, Lucía

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Aβ production in the brains of familial Alzheimer’s disease patients by Chavez Gutierrez, Lucia, De Strooper, Bart, Veugelen, Sarah, Szaruga, Maria

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P4‐016: Aβ production in the brains of familial Alzheimer's disease patients by Chavez Gutierrez, Lucia, Strooper, Bart, Veugelen, Sarah, Szaruga, Maria

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TRISOMY 21 CAUSES A DEFICIT IN LYSOSOMAL CATHEPSINS AND ALTERS APP/Aβ PROCESSING, INDEPENDENTLY OF AN EXTRA COPY OF APP by Wiseman, Frances K., Pulford, Laura J., Barkus, Chris, Liao, Fan, Portelius, Erik, Webb, Robin, Chavez-Gutierrez, Lucia, Cleverley, Karen, Noy, Sue, Rickman, Matthew, Tosh, Justin, Whittaker, Heather, Stewart, Floy, Szaruga, Maria, Nizetic, Dean, Murphy, Paul, Blennow, Kaj, de Strooper, Bart, Zetterberg, Henrik, Bannerman, David, Holtzman, David M., Tybulewicz, Victor L., Fisher, Elizabeth

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