Smaug/SAMD4A Restores Translational Activity of CUGBP1 and Suppresses CUG-Induced Myopathy

por de Haro, Maria, Al-Ramahi, Ismael, Jones, Karlie R., Holth, Jerrah K., Timchenko, Lubov T., Botas, Juan
Publicado 2013

TORC1 Inhibition by Rapamycin Promotes Antioxidant Defences in a Drosophila Model of Friedreich’s Ataxia

por Calap-Quintana, Pablo, Soriano, Sirena, Llorens, José Vicente, Al-Ramahi, Ismael, Botas, Juan, Moltó, María Dolores, Martínez-Sebastián, María José
Publicado 2015

Metal Homeostasis Regulators Suppress FRDA Phenotypes in a Drosophila Model of the Disease

por Soriano, Sirena, Calap-Quintana, Pablo, Llorens, José Vicente, Al-Ramahi, Ismael, Gutiérrez, Lucía, Martínez-Sebastián, María José, Botas, Juan, Moltó, María Dolores
Publicado 2016

Harnessing the paradoxical phenotypes of APOE ɛ2 and APOE ɛ4 to identify genetic modifiers in Alzheimer's disease

por Kim, Young Won, Al‐Ramahi, Ismael, Koire, Amanda, Wilson, Stephen J., Konecki, Daniel M., Mota, Samantha, Soleimani, Shirin, Botas, Juan, Lichtarge, Olivier
Publicado 2020

Identification of risk genes for Alzheimer’s disease by gene embedding

por Lagisetty, Yashwanth, Bourquard, Thomas, Al-Ramahi, Ismael, Mangleburg, Carl Grant, Mota, Samantha, Soleimani, Shirin, Shulman, Joshua M., Botas, Juan, Lee, Kwanghyuk, Lichtarge, Olivier
Publicado 2022

dAtaxin-2 Mediates Expanded Ataxin-1-Induced Neurodegeneration in a Drosophila Model of SCA1

por Al-Ramahi, Ismael, Pérez, Alma M, Lim, Janghoo, Zhang, Minghang, Sorensen, Rie, de Haro, Maria, Branco, Joana, Pulst, Stefan M, Zoghbi, Huda Y, Botas, Juan
Publicado 2007

Tau polarizes an aging transcriptional signature to excitatory neurons and glia

por Wu, Timothy, Deger, Jennifer M, Ye, Hui, Guo, Caiwei, Dhindsa, Justin, Pekarek, Brandon T, Al-Ouran, Rami, Liu, Zhandong, Al-Ramahi, Ismael, Botas, Juan, Shulman, Joshua M
Publicado 2023

A striatal-enriched intronic GPCR modulates huntingtin levels and toxicity

por Yao, Yuwei, Cui, Xiaotian, Al-Ramahi, Ismael, Sun, Xiaoli, Li, Bo, Hou, Jiapeng, Difiglia, Marian, Palacino, James, Wu, Zhi-Ying, Ma, Lixiang, Botas, Juan, Lu, Boxun
Publicado 2015

SPA-STOCSY: An Automated Tool for Identification of Annotated and Non-Annotated Metabolites in High-Throughput NMR Spectra

por Han, Xu, Wang, Wanli, Ma, Li-Hua, Al-Ramahi, Ismael, Botas, Juan, MacKenzie, Kevin, Allen, Genevera I., Young, Damian W., Liu, Zhandong, Maletic-Savatic, Mirjana
Publicado 2023

Functional variants identify sex-specific genes and pathways in Alzheimer’s Disease

por Bourquard, Thomas, Lee, Kwanghyuk, Al-Ramahi, Ismael, Pham, Minh, Shapiro, Dillon, Lagisetty, Yashwanth, Soleimani, Shirin, Mota, Samantha, Wilhelm, Kevin, Samieinasab, Maryam, Kim, Young Won, Huh, Eunna, Asmussen, Jennifer, Katsonis, Panagiotis, Botas, Juan, Lichtarge, Olivier
Publicado 2023

Functional screening of lysosomal storage disorder genes identifies modifiers of alpha-synuclein neurotoxicity

por Yu, Meigen, Ye, Hui, De-Paula, Ruth B., Mangleburg, Carl Grant, Wu, Timothy, Lee, Tom V., Li, Yarong, Duong, Duc, Phillips, Bridget, Cruchaga, Carlos, Allen, Genevera I., Seyfried, Nicholas T., Al-Ramahi, Ismael, Botas, Juan, Shulman, Joshua M.
Publicado 2023

Downregulation of glial genes involved in synaptic function mitigates Huntington's disease pathogenesis

por Onur, Tarik Seref, Laitman, Andrew, Zhao, He, Keyho, Ryan, Kim, Hyemin, Wang, Jennifer, Mair, Megan, Wang, Huilan, Li, Lifang, Perez, Alma, de Haro, Maria, Wan, Ying-Wooi, Allen, Genevera, Lu, Boxun, Al-Ramahi, Ismael, Liu, Zhandong, Botas, Juan
Publicado 2021

A Genome-Scale RNA–Interference Screen Identifies RRAS Signaling as a Pathologic Feature of Huntington's Disease

por Miller, John P., Yates, Bridget E., Al-Ramahi, Ismael, Berman, Ari E., Sanhueza, Mario, Kim, Eugene, de Haro, Maria, DeGiacomo, Francesco, Torcassi, Cameron, Holcomb, Jennifer, Gafni, Juliette, Mooney, Sean D., Botas, Juan, Ellerby, Lisa M., Hughes, Robert E.
Publicado 2012

Cross-species genetic screens identify transglutaminase 5 as a regulator of polyglutamine-expanded ataxin-1

por Lee, Won-Seok, Al-Ramahi, Ismael, Jeong, Hyun-Hwan, Jang, Youjin, Lin, Tao, Adamski, Carolyn J., Lavery, Laura A., Rath, Smruti, Richman, Ronald, Bondar, Vitaliy V., Alcala, Elizabeth, Revelli, Jean-Pierre, Orr, Harry T., Liu, Zhandong, Botas, Juan, Zoghbi, Huda Y.
Publicado 2022

TRIM28 regulates the nuclear accumulation and toxicity of both alpha-synuclein and tau

por Rousseaux, Maxime WC, de Haro, Maria, Lasagna-Reeves, Cristian A, De Maio, Antonia, Park, Jeehye, Jafar-Nejad, Paymaan, Al-Ramahi, Ismael, Sharma, Ajay, See, Lauren, Lu, Nan, Vilanova-Velez, Luis, Klisch, Tiemo J, Westbrook, Thomas F, Troncoso, Juan C, Botas, Juan, Zoghbi, Huda Y
Publicado 2016

Inhibition of PIP4Kγ ameliorates the pathological effects of mutant huntingtin protein

por Al-Ramahi, Ismael, Giridharan, Sai Srinivas Panapakkam, Chen, Yu-Chi, Patnaik, Samarjit, Safren, Nathaniel, Hasegawa, Junya, de Haro, Maria, Wagner Gee, Amanda K, Titus, Steven A, Jeong, Hyunkyung, Clarke, Jonathan, Krainc, Dimitri, Zheng, Wei, Irvine, Robin F, Barmada, Sami, Ferrer, Marc, Southall, Noel, Weisman, Lois S, Botas, Juan, Marugan, Juan Jose
Publicado 2017

Integrated genomics and proteomics to define huntingtin CAG length-dependent networks in HD Mice

por Langfelder, Peter, Cantle, Jeffrey P., Chatzopoulou, Doxa, Wang, Nan, Gao, Fuying, Al-Ramahi, Ismael, Lu, Xiao-Hong, Ramos, Eliana Marisa, El-Zein, Karla, Zhao, Yining, Deverasetty, Sandeep, Tebbe, Andreas, Schaab, Christoph, Lavery, Daniel J., Howland, David, Kwak, Seung, Botas, Juan, Aaronson, Jeffrey S., Rosinski, Jim, Coppola, Giovanni, Horvath, Steve, Yang, X. William
Publicado 2016