Zobrazeno 1 - 10
of 63
pro vyhledávání: '"Ismael Al-Ramahi"'
Autor:
Thomas Bourquard, Kwanghyuk Lee, Ismael Al-Ramahi, Minh Pham, Dillon Shapiro, Yashwanth Lagisetty, Shirin Soleimani, Samantha Mota, Kevin Wilhelm, Maryam Samieinasab, Young Won Kim, Eunna Huh, Jennifer Asmussen, Panagiotis Katsonis, Juan Botas, Olivier Lichtarge
Publikováno v:
Nature Communications, Vol 14, Iss 1, Pp 1-15 (2023)
Abstract The incidence of Alzheimer’s Disease in females is almost double that of males. To search for sex-specific gene associations, we build a machine learning approach focused on functionally impactful coding variants. This method can detect di
Externí odkaz:
https://doaj.org/article/5fd507b11a1941148399c2ae7ff75fb9
Autor:
Ron Benyair, Sai Srinivas Panapakkam Giridharan, Pilar Rivero-Ríos, Junya Hasegawa, Emily Bristow, Eeva-Liisa Eskelinen, Merav D Shmueli, Vered Fishbain-Yoskovitz, Yifat Merbl, Lisa M Sharkey, Henry L. Paulson, Phyllis I Hanson, Samarjit Patnaik, Ismael Al-Ramahi, Juan Botas, Juan Marugan, Lois S. Weisman
Publikováno v:
Autophagy Reports, Vol 2, Iss 1 (2023)
Many neurodegenerative diseases, including Huntington’s disease (HD) and Alzheimer’s disease (AD), occur due to an accumulation of aggregation-prone proteins, which results in neuronal death. Studies in animal and cell models show that reducing t
Externí odkaz:
https://doaj.org/article/025cf5e3def14b5b85e8e1ea105c7f8c
Autor:
Timothy Wu, Jennifer M Deger, Hui Ye, Caiwei Guo, Justin Dhindsa, Brandon T Pekarek, Rami Al-Ouran, Zhandong Liu, Ismael Al-Ramahi, Juan Botas, Joshua M Shulman
Publikováno v:
eLife, Vol 12 (2023)
Aging is a major risk factor for Alzheimer’s disease (AD), and cell-type vulnerability underlies its characteristic clinical manifestations. We have performed longitudinal, single-cell RNA-sequencing in Drosophila with pan-neuronal expression of hu
Externí odkaz:
https://doaj.org/article/38917c6a7164451fa76d94b52a50b80c
Autor:
Meigen Yu, Hui Ye, Ruth B De-Paula, Carl Grant Mangleburg, Timothy Wu, Tom V Lee, Yarong Li, Duc Duong, Bridget Phillips, Carlos Cruchaga, Genevera I Allen, Nicholas T Seyfried, Ismael Al-Ramahi, Juan Botas, Joshua M Shulman
Publikováno v:
PLoS Genetics, Vol 19, Iss 5, p e1010760 (2023)
Heterozygous variants in the glucocerebrosidase (GBA) gene are common and potent risk factors for Parkinson's disease (PD). GBA also causes the autosomal recessive lysosomal storage disorder (LSD), Gaucher disease, and emerging evidence from human ge
Externí odkaz:
https://doaj.org/article/2fca0b159dad43719f3d2b2f9cfef08b
Autor:
Won-Seok Lee, Ismael Al-Ramahi, Hyun-Hwan Jeong, Youjin Jang, Tao Lin, Carolyn J. Adamski, Laura A. Lavery, Smruti Rath, Ronald Richman, Vitaliy V. Bondar, Elizabeth Alcala, Jean-Pierre Revelli, Harry T. Orr, Zhandong Liu, Juan Botas, Huda Y. Zoghbi
Publikováno v:
The Journal of Clinical Investigation, Vol 132, Iss 9 (2022)
Many neurodegenerative disorders are caused by abnormal accumulation of misfolded proteins. In spinocerebellar ataxia type 1 (SCA1), accumulation of polyglutamine-expanded (polyQ-expanded) ataxin-1 (ATXN1) causes neuronal toxicity. Lowering total ATX
Externí odkaz:
https://doaj.org/article/15989ff1be9a4c33b23b168062a26a21
Autor:
Tarik Seref Onur, Andrew Laitman, He Zhao, Ryan Keyho, Hyemin Kim, Jennifer Wang, Megan Mair, Huilan Wang, Lifang Li, Alma Perez, Maria de Haro, Ying-Wooi Wan, Genevera Allen, Boxun Lu, Ismael Al-Ramahi, Zhandong Liu, Juan Botas
Publikováno v:
eLife, Vol 10 (2021)
Most research on neurodegenerative diseases has focused on neurons, yet glia help form and maintain the synapses whose loss is so prominent in these conditions. To investigate the contributions of glia to Huntington's disease (HD), we profiled the ge
Externí odkaz:
https://doaj.org/article/0f245c6836524f499bbfa918e0eb5204
Autor:
Ismael Al-Ramahi, Sai Srinivas Panapakkam Giridharan, Yu-Chi Chen, Samarjit Patnaik, Nathaniel Safren, Junya Hasegawa, Maria de Haro, Amanda K Wagner Gee, Steven A Titus, Hyunkyung Jeong, Jonathan Clarke, Dimitri Krainc, Wei Zheng, Robin F Irvine, Sami Barmada, Marc Ferrer, Noel Southall, Lois S Weisman, Juan Botas, Juan Jose Marugan
Publikováno v:
eLife, Vol 6 (2017)
The discovery of the causative gene for Huntington’s disease (HD) has promoted numerous efforts to uncover cellular pathways that lower levels of mutant huntingtin protein (mHtt) and potentially forestall the appearance of HD-related neurological d
Externí odkaz:
https://doaj.org/article/da11075a98b347ab84cdded4b0780b44
Autor:
Maxime WC Rousseaux, Maria de Haro, Cristian A Lasagna-Reeves, Antonia De Maio, Jeehye Park, Paymaan Jafar-Nejad, Ismael Al-Ramahi, Ajay Sharma, Lauren See, Nan Lu, Luis Vilanova-Velez, Tiemo J Klisch, Thomas F Westbrook, Juan C Troncoso, Juan Botas, Huda Y Zoghbi
Publikováno v:
eLife, Vol 5 (2016)
Several neurodegenerative diseases are driven by the toxic gain-of-function of specific proteins within the brain. Elevated levels of alpha-synuclein (α-Syn) appear to drive neurotoxicity in Parkinson's disease (PD); neuronal accumulation of tau is
Externí odkaz:
https://doaj.org/article/93410c1594ba4a58af0e34be80ba8d24
Autor:
Sirena Soriano, Pablo Calap-Quintana, José Vicente Llorens, Ismael Al-Ramahi, Lucía Gutiérrez, María José Martínez-Sebastián, Juan Botas, María Dolores Moltó
Publikováno v:
PLoS ONE, Vol 11, Iss 7, p e0159209 (2016)
Friedreich's ataxia (FRDA), the most commonly inherited ataxia in populations of European origin, is a neurodegenerative disorder caused by a decrease in frataxin levels. One of the hallmarks of the disease is the accumulation of iron in several tiss
Externí odkaz:
https://doaj.org/article/c5f78dbb1899456b995509590addd8af
Autor:
Yuwei Yao, Xiaotian Cui, Ismael Al-Ramahi, Xiaoli Sun, Bo Li, Jiapeng Hou, Marian Difiglia, James Palacino, Zhi-Ying Wu, Lixiang Ma, Juan Botas, Boxun Lu
Publikováno v:
eLife, Vol 4 (2015)
Huntington's disease (HD) represents an important model for neurodegenerative disorders and proteinopathies. It is mainly caused by cytotoxicity of the mutant huntingtin protein (Htt) with an expanded polyQ stretch. While Htt is ubiquitously expresse
Externí odkaz:
https://doaj.org/article/6b8df04b215541d0b53ce86f1b8566ba