Search Results - "Garcia‐Forn, Marta"

DDX3X syndrome: From clinical phenotypes to biological insights by Mueffling, Alexa, Garcia‐Forn, Marta, De Rubeis, Silvia

“…DDX3X syndrome is a neurodevelopmental disorder accounting for up to 3% of cases of intellectual disability (ID) and affecting primarily females. Individuals…”
Get full text

Neuron type‐specific increase in lamin B1 contributes to nuclear dysfunction in Huntington’s disease by Alcalá‐Vida, Rafael, Garcia‐Forn, Marta, Castany‐Pladevall, Carla, Creus‐Muncunill, Jordi, Ito, Yoko, Blanco, Enrique, Golbano, Arantxa, Crespí‐Vázquez, Kilian, Parry, Aled, Slater, Guy, Samarajiwa, Shamith, Peiró, Sandra, Di Croce, Luciano, Narita, Masashi, Pérez‐Navarro, Esther

“…Lamins are crucial proteins for nuclear functionality. Here, we provide new evidence showing that increased lamin B1 levels contribute to the pathophysiology…”
Get full text

Pharmacogenetic modulation of STEP improves motor and cognitive function in a mouse model of Huntington's disease by García-Forn, Marta, Martínez-Torres, Sara, García-Díaz Barriga, Gerardo, Alberch, Jordi, Milà, Montse, Azkona, Garikoitz, Pérez-Navarro, Esther

“…Huntington's disease (HD) is a hereditary neurodegenerative disorder caused by an expansion of a CAG repeat in the huntingtin (htt) gene, which results in an…”
Get full text

Lamin B1 and nuclear morphology in peripheral cells as new potential biomarkers to follow treatment response in Huntington's disease by Garcia‐Forn, Marta, Castany‐Pladevall, Carla, Golbano, Arantxa, Pérez‐Pérez, Jesús, Brito, Verónica, Kulisevsky, Jaime, Pérez‐Navarro, Esther

“…[...]only fibroblasts expressing mHTT with ≥42 CAG repeats showed increased lamin B1 levels (Figure 1D), which was detected from pre-symptomatic stages (Figure…”
Get full text

Celf4 controls mRNA translation underlying synaptic development in the prenatal mammalian neocortex by Salamon, Iva, Park, Yongkyu, Miškić, Terezija, Kopić, Janja, Matteson, Paul, Page, Nicholas F., Roque, Alfonso, McAuliffe, Geoffrey W., Favate, John, Garcia-Forn, Marta, Shah, Premal, Judaš, Miloš, Millonig, James H., Kostović, Ivica, De Rubeis, Silvia, Hart, Ronald P., Krsnik, Željka, Rasin, Mladen-Roko

“…Abnormalities in neocortical and synaptic development are linked to neurodevelopmental disorders. However, the molecular and cellular mechanisms governing…”
Get full text

RTP801/REDD1 Is Involved in Neuroinflammation and Modulates Cognitive Dysfunction in Huntington's Disease by Pérez-Sisqués, Leticia, Solana-Balaguer, Júlia, Campoy-Campos, Genís, Martín-Flores, Núria, Sancho-Balsells, Anna, Vives-Isern, Marcel, Soler-Palazón, Ferran, Garcia-Forn, Marta, Masana, Mercè, Alberch, Jordi, Pérez-Navarro, Esther, Giralt, Albert, Malagelada, Cristina

“…RTP801/REDD1 is a stress-regulated protein whose levels are increased in several neurodegenerative diseases such as Parkinson's, Alzheimer's, and Huntington's…”
Get full text

Assessing motor development and function in mouse models of neurodevelopmental disorders by Dierdorff, Lauren, Garcia-Forn, Marta, von Mueffling, Alexa, De Rubeis, Silvia

“…Alterations in motor development often accompany neurodevelopmental disorders (NDD) and can have an impact on social interaction and communication. Studying…”
Get full text

Linking Autism Risk Genes to Disruption of Cortical Development by Garcia-Forn, Marta, Boitnott, Andrea, Akpinar, Zeynep, De Rubeis, Silvia

“…Autism spectrum disorder (ASD) is a prevalent neurodevelopmental disorder characterized by impairments in social communication and social interaction, and the…”
Get full text

Clonally expanded CD8 T cells characterize amyotrophic lateral sclerosis-4 by Campisi, Laura, Chizari, Shahab, Ho, Jessica S. Y., Gromova, Anastasia, Arnold, Frederick J., Mosca, Lorena, Mei, Xueyan, Fstkchyan, Yesai, Torre, Denis, Beharry, Cindy, Garcia-Forn, Marta, Jiménez-Alcázar, Miguel, Korobeynikov, Vladislav A., Prazich, Jack, Fayad, Zahi A., Seldin, Marcus M., De Rubeis, Silvia, Bennett, Craig L., Ostrow, Lyle W., Lunetta, Christian, Squatrito, Massimo, Byun, Minji, Shneider, Neil A., Jiang, Ning, La Spada, Albert R., Marazzi, Ivan

“…Amyotrophic lateral sclerosis (ALS) is a heterogenous neurodegenerative disorder that affects motor neurons and voluntary muscle control 1 . ALS heterogeneity…”
Get full text

Increased translation as a novel pathogenic mechanism in Huntington's disease by Creus-Muncunill, Jordi, Badillos-Rodríguez, Raquel, Garcia-Forn, Marta, Masana, Mercè, Garcia-Díaz Barriga, Gerardo, Guisado-Corcoll, Anna, Alberch, Jordi, Malagelada, Cristina, Delgado-García, José M, Gruart, Agnès, Pérez-Navarro, Esther

“…Huntington's disease is a neurodegenerative disorder caused by a CAG repeat expansion in exon 1 of the huntingtin gene. Striatal projection neurons are mainly…”
Get full text

Developmental and Behavioral Phenotypes in a Mouse Model of DDX3X Syndrome by Boitnott, Andrea, Garcia-Forn, Marta, Ung, Dévina C., Niblo, Kristi, Mendonca, Danielle, Park, Yeaji, Flores, Michael, Maxwell, Sylvia, Ellegood, Jacob, Qiu, Lily R., Grice, Dorothy E., Lerch, Jason P., Rasin, Mladen-Roko, Buxbaum, Joseph D., Drapeau, Elodie, De Rubeis, Silvia

“…Mutations in the X-linked gene DDX3X account for approximately 2% of intellectual disability in females, often comorbid with behavioral problems, motor…”
Get full text

Lack of Annexin A6 Exacerbates Liver Dysfunction and Reduces Lifespan of Niemann-Pick Type C Protein–Deficient Mice by Meneses-Salas, Elsa, Garcia-Forn, Marta, Castany-Pladevall, Carla, Lu, Albert, Fajardo, Alba, Jose, Jaimy, Wahba, Mohamed, Bosch, Marta, Pol, Albert, Tebar, Francesc, Klein, Andrés D., Zanlungo, Silvana, Pérez-Navarro, Esther, Grewal, Thomas, Enrich, Carlos, Rentero, Carles

“…Niemann-Pick type C (NPC) disease is a lysosomal storage disorder characterized by cholesterol accumulation caused by loss-of-function mutations in the Npc1…”
Get full text

Author Correction: Clonally expanded CD8 T cells characterize amyotrophic lateral sclerosis-4 by Campisi, Laura, Chizari, Shahab, Ho, Jessica S. Y., Gromova, Anastasia, Arnold, Frederick J., Mosca, Lorena, Mei, Xueyan, Fstkchyan, Yesai, Torre, Denis, Beharry, Cindy, Garcia-Forn, Marta, Jiménez-Alcázar, Miguel, Korobeynikov, Vladislav A., Prazich, Jack, Fayad, Zahi A., Seldin, Marcus M., De Rubeis, Silvia, Bennett, Craig L., Ostrow, Lyle W., Lunetta, Christian, Squatrito, Massimo, Byun, Minji, Shneider, Neil A., Jiang, Ning, La Spada, Albert R., Marazzi, Ivan

Get full text

D20 Altered levels of brain extracellular vesicle subpopulations in Huntington’s disease by Pérez-González, Rocío, Martínez-Horta, Saül, Rivas-Asensio, Elisa, Pérez-Pérez, Jesús, García-Forn, Marta, Pérez-Navarro, Esther, Kulisevsky, Jaime

“…BackgroundHuntington’s disease (HD) is an inherited autosomal dominant disease characterized by progressive degeneration of the striatum and the cerebral…”
Get full text

Teaching case 3-2019: Are nuclear clefts or invaginations the niche of intranuclear inclusions in FTLD-TDP? by Molina-Porcel, Laura, Pérez-Navarro, Esther, García-Forn, Marta, Westaway, David, Colom-Cadena, Martí, Gelpi, Ellen

Get more information