Elevated methylation levels, reduced expression levels, and frequent contractions in a clinical cohort of C9orf72 expansion carriers

Autor: Jazmyne L. Jackson, NiCole A. Finch, Matthew C. Baker, Jennifer M. Kachergus, Mariely DeJesus-Hernandez, Kimberly Pereira, Elizabeth Christopher, Mercedes Prudencio, Michael G. Heckman, E. Aubrey Thompson, Dennis W. Dickson, Jaimin Shah, Björn Oskarsson, Leonard Petrucelli, Rosa Rademakers, Marka van Blitterswijk

Publikováno v: Molecular Neurodegeneration, Vol 15, Iss 1, Pp 1-11 (2020)

Abstract Background A repeat expansion in the C9orf72-SMCR8 complex subunit (C9orf72) is the most common genetic cause of two debilitating neurodegenerative diseases: amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). Currently, m

Externí odkaz: https://doaj.org/article/9eab88c046124a2ea8e3fd804203df32

Long-read sequencing across the C9orf72 ‘GGGGCC’ repeat expansion: implications for clinical use and genetic discovery efforts in human disease

Autor: Mark T. W. Ebbert, Stefan L. Farrugia, Jonathon P. Sens, Karen Jansen-West, Tania F. Gendron, Mercedes Prudencio, Ian J. McLaughlin, Brett Bowman, Matthew Seetin, Mariely DeJesus-Hernandez, Jazmyne Jackson, Patricia H. Brown, Dennis W. Dickson, Marka van Blitterswijk, Rosa Rademakers, Leonard Petrucelli, John D. Fryer

Publikováno v: Molecular Neurodegeneration, Vol 13, Iss 1, Pp 1-17 (2018)

Abstract Background Many neurodegenerative diseases are caused by nucleotide repeat expansions, but most expansions, like the C9orf72 ‘GGGGCC’ (G4C2) repeat that causes approximately 5–7% of all amyotrophic lateral sclerosis (ALS) and frontotem

Externí odkaz: https://doaj.org/article/2936e588eb3b4aff9a908adca66916b2

Poly(ADP-ribose) promotes toxicity of

Autor: Junli, Gao, Quinlan T, Mewborne, Amandeep, Girdhar, Udit, Sheth, Alyssa N, Coyne, Ritika, Punathil, Bong Gu, Kang, Morgan, Dasovich, Austin, Veire, Mariely, DeJesus Hernandez, Shuaichen, Liu, Zheng, Shi, Ruxandra, Dafinca, Elise, Fouquerel, Kevin, Talbot, Tae-In, Kam, Yong-Jie, Zhang, Dennis, Dickson, Leonard, Petrucelli, Marka, van Blitterswijk, Lin, Guo, Ted M, Dawson, Valina L, Dawson, Anthony K L, Leung, Thomas E, Lloyd, Tania F, Gendron, Jeffrey D, Rothstein, Ke, Zhang

Publikováno v: Science translational medicine. 14(662)

Arginine-rich dipeptide repeat proteins (R-DPRs), abnormal translational products of a GGGGCC hexanucleotide repeat expansion in

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::408a050c4245a60235e7b03a2599d9c6
https://pubmed.ncbi.nlm.nih.gov/36103513

Shared brain transcriptomic signature in TDP-43 type A FTLD patients with or without GRN mutations

Autor: Cyril Pottier, Ligia Mateiu, Matthew C Baker, Mariely DeJesus-Hernandez, Cristina Teixeira Vicente, NiCole A Finch, Shulan Tian, Marka van Blitterswijk, Melissa E Murray, Yingxue Ren, Leonard Petrucelli, Björn Oskarsson, Joanna M Biernacka, Neill R Graff-Radford, Bradley F Boeve, Ronald C Petersen, Keith A Josephs, Yan W Asmann, Dennis W Dickson, Rosa Rademakers

Publikováno v: Brain

Frontotemporal lobar degeneration with TDP-43 inclusions (FTLD-TDP) is a complex heterogeneous neurodegenerative disorder for which mechanisms are poorly understood. To explore transcriptional changes underlying FTLD-TDP, we performed RNA-sequencing

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1d495838414d2db1eae56c59d931a1ee
https://repository.uantwerpen.be/docstore/d:irua:13382

Extensive transcriptomic study emphasizes importance of vesicular transport in C9orf72 expansion carriers

Autor: Joseph S. Reddy, Bjorn Oskarsson, Shulan Tian, Matt Baker, Tania F. Gendron, Michael G. Heckman, Melissa E. Murray, Ni Cole A. Finch, David S. Knopman, Keith A. Josephs, John W. Sheppard, Jazmyne L. Jackson, Yingxue Ren, Leonard Petrucelli, Mariely DeJesus-Hernandez, Dennis W. Dickson, Cyril Pottier, Ronald C. Petersen, Rosa Rademakers, Bradley F. Boeve, Yan W. Asmann, Neill R. Graff-Radford, Marka van Blitterswijk

Publikováno v: Acta Neuropathologica Communications, Vol 7, Iss 1, Pp 1-21 (2019)
Acta Neuropathologica Communications
Acta neuropathologica communications

The majority of the clinico-pathological variability observed in patients harboring a repeat expansion in the C9orf72-SMCR8 complex subunit (C9orf72) remains unexplained. This expansion, which represents the most common genetic cause of frontotempora

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::931f6d09b09ee017458c49d124a481c8
http://link.springer.com/article/10.1186/s40478-019-0797-0