Search Results - "Ragagnin, Audrey M.G."

The Redox Activity of Protein Disulfide Isomerase Inhibits ALS Phenotypes in Cellular and Zebrafish Models by Parakh, Sonam, Shadfar, Sina, Perri, Emma R., Ragagnin, Audrey M.G., Piattoni, Claudia V., Fogolín, Mariela B., Yuan, Kristy C., Shahheydari, Hamideh, Don, Emily K., Thomas, Collen J., Hong, Yuning, Comini, Marcelo A., Laird, Angela S., Spencer, Damian M., Atkin, Julie D.

“…Pathological forms of TAR DNA-binding protein 43 (TDP-43) are present in almost all cases of amyotrophic lateral sclerosis (ALS), and 20% of familial ALS cases…”
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Motor Neuron Susceptibility in ALS/FTD by Ragagnin, Audrey M G, Shadfar, Sina, Vidal, Marta, Jamali, Md Shafi, Atkin, Julie D

“…Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease characterized by the death of both upper and lower motor neurons (MNs) in the brain,…”
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Amyotrophic lateral sclerosis-linked UBQLN2 mutants inhibit endoplasmic reticulum to Golgi transport, leading to Golgi fragmentation and ER stress by Halloran, Mark, Ragagnin, Audrey M. G., Vidal, Marta, Parakh, Sonam, Yang, Shu, Heng, Benjamin, Grima, Natalie, Shahheydari, Hamideh, Soo, Kai-Ying, Blair, Ian, Guillemin, Gilles J., Sundaramoorthy, Vinod, Atkin, Julie D.

“…Amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) are fatal neurodegenerative diseases that are related genetically and pathologically…”
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C9orf72-Associated Dipeptide Repeat Expansions Perturb ER-Golgi Vesicular Trafficking, Inducing Golgi Fragmentation and ER Stress, in ALS/FTD by Sultana, Jessica, Ragagnin, Audrey M G, Parakh, Sonam, Saravanabavan, Sayanthooran, Soo, Kai Ying, Vidal, Marta, Jagaraj, Cyril Jones, Ding, Kunjie, Wu, Sharlynn, Shadfar, Sina, Don, Emily K, Deva, Anand, Nicholson, Garth, Rowe, Dominic B, Blair, Ian, Yang, Shu, Atkin, Julie D

“…Hexanucleotide repeat expansions (HREs) in the chromosome 9 open reading frame 72 (C9orf72) gene are the most frequent genetic cause of amyotrophic lateral…”
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Impaired NHEJ repair in amyotrophic lateral sclerosis is associated with TDP-43 mutations by Konopka, Anna, Whelan, Donna R., Jamali, Md Shafi, Perri, Emma, Shahheydari, Hamideh, Toth, Reka P., Parakh, Sonam, Robinson, Tina, Cheong, Alison, Mehta, Prachi, Vidal, Marta, Ragagnin, Audrey M. G., Khizhnyak, Ivan, Jagaraj, Cyril J., Galper, Jasmin, Grima, Natalie, Deva, Anand, Shadfar, Sina, Nicholson, Garth A., Yang, Shu, Cutts, Suzanne M., Horejsi, Zuzana, Bell, Toby D. M., Walker, Adam K., Blair, Ian P., Atkin, Julie D.

“…Abstract Background Pathological forms of TAR DNA-binding protein 43 (TDP-43) are present in motor neurons of almost all amyotrophic lateral sclerosis (ALS)…”
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ALS/FTD-associated mutation in cyclin F inhibits ER-Golgi trafficking, inducing ER stress, ERAD and Golgi fragmentation by Ragagnin, Audrey M. G., Sundaramoorthy, Vinod, Farzana, Fabiha, Gautam, Shashi, Saravanabavan, Sayanthooran, Takalloo, Zeinab, Mehta, Prachi, Do-Ha, Dzung, Parakh, Sonam, Shadfar, Sina, Hunter, Julie, Vidal, Marta, Jagaraj, Cyril J., Brocardo, Mariana, Konopka, Anna, Yang, Shu, Rayner, Stephanie L., Williams, Kelly L., Blair, Ian P., Chung, Roger S., Lee, Albert, Ooi, Lezanne, Atkin, Julie D.

“…Amyotrophic lateral sclerosis (ALS) is a severely debilitating neurodegenerative condition that is part of the same disease spectrum as frontotemporal dementia…”
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ERp57 is protective against mutant SOD1-induced cellular pathology in amyotrophic lateral sclerosis by Parakh, Sonam, Jagaraj, Cyril J, Vidal, Marta, Ragagnin, Audrey M G, Perri, Emma R, Konopka, Anna, Toth, Reka P, Galper, Jasmin, Blair, Ian P, Thomas, Colleen J, Walker, Adam K, Yang, Shu, Spencer, Damian M, Atkin, Julie D

“…Abstract Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disorder and mutations in superoxide dismutase 1 (SOD1) account for 20% of familial…”
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