Zobrazeno 1 - 10
of 27
pro vyhledávání: '"Leon Tejwani"'
Autor:
Leon Tejwani, Youngseob Jung, Hiroshi Kokubu, Sowmithra Sowmithra, Luhan Ni, Changwoo Lee, Benjamin Sanders, Paul J. Lee, Yangfei Xiang, Kimberly Luttik, Armand Soriano, Jennifer Yoon, Junhyun Park, Hannah H. Ro, Hyoungseok Ju, Clara Liao, Sofia Massaro Tieze, Frank Rigo, Paymaan Jafar-Nejad, Janghoo Lim
Publikováno v:
The Journal of Clinical Investigation, Vol 133, Iss 16 (2023)
Protein aggregation is a hallmark of many neurodegenerative disorders, including amyotrophic lateral sclerosis (ALS). Although mutations in TARDBP, encoding transactive response DNA-binding protein 43 kDa (TDP-43), account for less than 1% of all ALS
Externí odkaz:
https://doaj.org/article/3422673f0c504358a6b5a37951131574
Autor:
Tingting Dong, Leon Tejwani, Youngseob Jung, Hiroshi Kokubu, Kimberly Luttik, Terri M. Driessen, Janghoo Lim
Publikováno v:
JCI Insight, Vol 6, Iss 22 (2021)
Genetic variants in Granulin (GRN), which encodes the secreted glycoprotein progranulin (PGRN), are associated with several neurodegenerative diseases, including frontotemporal lobar degeneration, neuronal ceroid lipofuscinosis, and Alzheimer’s dis
Externí odkaz:
https://doaj.org/article/83878021b4ae453a89af51ee5d8cbe4b
Autor:
Zeeshan Gauhar, Leon Tejwani, Uzma Abdullah, Sadia Saeed, Shagufta Shafique, Mazhar Badshah, Jungmin Choi, Weilai Dong, Carol Nelson-Williams, Richard P. Lifton, Janghoo Lim, Ghazala K. Raja
Publikováno v:
Cells, Vol 11, Iss 19, p 3090 (2022)
Autosomal-recessive cerebellar ataxias (ARCAs) are heterogeneous rare disorders mainly affecting the cerebellum and manifest as movement disorders in children and young adults. To date, ARCA causing mutations have been identified in nearly 100 genes;
Externí odkaz:
https://doaj.org/article/8b4eb39ce0dc404498614cfcd9839e1d
Autor:
Cleber A Trujillo, Jason W Adams, Priscilla D Negraes, Cassiano Carromeu, Leon Tejwani, Allan Acab, Ben Tsuda, Charles A Thomas, Neha Sodhi, Katherine M Fichter, Sarah Romero, Fabian Zanella, Terrence J Sejnowski, Henning Ulrich, Alysson R Muotri
Publikováno v:
EMBO Molecular Medicine, Vol 13, Iss 1, Pp n/a-n/a (2021)
Abstract Duplication or deficiency of the X‐linked MECP2 gene reliably produces profound neurodevelopmental impairment. MECP2 mutations are almost universally responsible for Rett syndrome (RTT), and particular mutations and cellular mosaicism of M
Externí odkaz:
https://doaj.org/article/62a5f92686b74314967f1f52b82ce189
Autor:
Kimberly Luttik, Leon Tejwani, Hyoungseok Ju, Terri Driessen, Cleo J. L. M. Smeets, Chandrakanth Reddy Edamakanti, Aryaan Khan, Joy Yun, Puneet Opal, Janghoo Lim
Publikováno v:
Proceedings of the National Academy of Sciences. 119
Spinocerebellar ataxia type 1 (SCA1) is a dominantly inherited neurodegenerative disease characterized by progressive ataxia and degeneration of specific neuronal populations, including Purkinje cells (PCs) in the cerebellum. Previous studies have de
Autor:
Leon Tejwani, Janghoo Lim
Publikováno v:
Cell Mol Life Sci
The family of hereditary cerebellar ataxias is a large group of disorders with heterogenous clinical manifestations and genetic etiologies. Among these, over 30 autosomal dominantly inherited subtypes have been identified, collectively referred to as
Autor:
Raghu Ram Achar, Faiyaz Ahmad, Vyshnavy Balendra, Kanthesh M. Basalingappa, Bedanta Bhattacharjee, Hareram Birla, S. Chandan, Anuradha Venkatakrishnan Chimata, Debabrata Dash, Alex Deamer, Bhargab Deka, Gouri Deshpande, Prajakta Deshpande, Vinodinee Dubey, Namrata Dwivedi, Josephine Esposto, Jacques Ferreira, Edward Giniger, Neha Gogia, T.S. Gopenath, Nidhi Gupta, Fatema Haidery, G. Harini, Raj Kumar Koiri, Dhiraj Kumar, Janghoo Lim, Chih-Li Lin, Kimberly Luttik, Tarun Minocha, Anamika Misra, Rayees Ahmad Naik, Barsha Baisakhi Nayak, Victor Olmos, Chetan Panda, Roshni Rajpoot, Manjula Ramu, Andrew Scott, Shabnam Shabir, Anshul Shakya, Naveen Shivavedi, Shreya Shreshtha, Arvind Kumar Shukla, Aditi Singh, Amit Singh, Mahendra P. Singh, Sandeep Kumar Singh, K.C. Sumukha, Rithwick Surya, Leon Tejwani, Sing-Hua Tsou, Sonali S. Vishal, Sanjeev Kumar Yadav, J.R. Yodhaanjali, Sumaira Yousuf
Publikováno v:
Anti-Aging Drug Discovery on the Basis of Hallmarks of Aging ISBN: 9780323902359
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::1e3470c7b2b0a179260d07b0898c321a
https://doi.org/10.1016/b978-0-323-90235-9.00023-9
https://doi.org/10.1016/b978-0-323-90235-9.00023-9
Exploring the role of protein quality control in aging and age-associated neurodegenerative diseases
Publikováno v:
Anti-Aging Drug Discovery on the Basis of Hallmarks of Aging ISBN: 9780323902359
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::167bb1211ebf5be915c639a39b65d58a
https://doi.org/10.1016/b978-0-323-90235-9.00012-4
https://doi.org/10.1016/b978-0-323-90235-9.00012-4
Autor:
Terri M. Driessen, Janghoo Lim, Tingting Dong, Youngseob Jung, Kimberly P. Luttik, Hiroshi Kokubu, Leon Tejwani
Publikováno v:
JCI Insight
Genetic variants in Granulin (GRN), which encodes the secreted glycoprotein progranulin (PGRN), are associated with several neurodegenerative diseases, including frontotemporal lobar degeneration, neuronal ceroid lipofuscinosis, and Alzheimer’s dis
Autor:
Luhan Ni, Janghoo Lim, Neal G. Ravindra, Kristen Kim, Harry T. Orr, Laura P.W. Ranum, Changwoo Lee, Jennifer C. Yoon, Phyllis L. Faust, Billy Nguyen, Fatema Haidery, Hannah Ro, David van Dijk, Kimberly P. Luttik, Leon Tejwani, Vikram G. Shakkottai, John T Gionco
SUMMARYNeurodegeneration is a protracted process involving progressive changes in myriad cell types that ultimately result in neuronal death. Changes in vulnerable neuronal populations are highly influenced by concomitant changes in surrounding cells
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c49f82534a0333786f96b43ced4124ef
https://doi.org/10.1101/2021.10.22.465444
https://doi.org/10.1101/2021.10.22.465444