Zobrazeno 1 - 10
of 95
pro vyhledávání: '"Sami J. Barmada"'
Autor:
Rita Sattler, Bryan J. Traynor, Janice Robertson, Ludo Van Den Bosch, Sami J. Barmada, Clive N. Svendsen, Matthew D. Disney, Tania F. Gendron, Philip C. Wong, Martin R. Turner, Adam Boxer, Suma Babu, Michael Benatar, Michael Kurnellas, Jonathan D. Rohrer, Christopher J. Donnelly, Lynette M. Bustos, Kendall Van Keuren-Jensen, Penny A. Dacks, Marwan N. Sabbagh, Attendees of the inaugural C9ORF72 FTD/ALS Summit
Publikováno v:
Neurology and Therapy, Vol 12, Iss 6, Pp 1821-1843 (2023)
Abstract A summit held March 2023 in Scottsdale, Arizona (USA) focused on the intronic hexanucleotide expansion in the C9ORF72 gene and its relevance in frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS; C9ORF72-FTD/ALS). The goal
Externí odkaz:
https://doaj.org/article/29cedee3ed35403a952639263a5b1ede
Autor:
Stephanie S. Sandoval-Pistorius, Julia E. Gerson, Nyjerus Liggans, Jaimie H. Ryou, Kulin Oak, Xingli Li, Keyshla Y. Negron-Rios, Svetlana Fischer, Henry Barsh, Emily V. Crowley, Mary E. Skinner, Lisa M. Sharkey, Sami J. Barmada, Henry L. Paulson
Publikováno v:
Scientific Reports, Vol 13, Iss 1, Pp 1-14 (2023)
Abstract The key protein implicated in Parkinson’s disease and other synucleinopathies is α-synuclein, and a post-translationally modified form of the protein, phosphorylated at serine 129 (pS129), is a principal component in Lewy bodies, a pathol
Externí odkaz:
https://doaj.org/article/eaddfd74f32f410b9eea3dbbd5fece4b
Autor:
Bilal Khalil, Deepak Chhangani, Melissa C. Wren, Courtney L. Smith, Jannifer H. Lee, Xingli Li, Christian Puttinger, Chih-Wei Tsai, Gael Fortin, Dmytro Morderer, Junli Gao, Feilin Liu, Chun Kim Lim, Jingjiao Chen, Ching-Chieh Chou, Cara L. Croft, Amanda M. Gleixner, Christopher J. Donnelly, Todd E. Golde, Leonard Petrucelli, Björn Oskarsson, Dennis W. Dickson, Ke Zhang, James Shorter, Shige H. Yoshimura, Sami J. Barmada, Diego E. Rincon-Limas, Wilfried Rossoll
Publikováno v:
Molecular Neurodegeneration, Vol 17, Iss 1, Pp 1-27 (2022)
Abstract Background Cytoplasmic mislocalization and aggregation of TAR DNA-binding protein-43 (TDP-43) is a hallmark of the amyotrophic lateral sclerosis and frontotemporal dementia (ALS/FTD) disease spectrum, causing both nuclear loss-of-function an
Externí odkaz:
https://doaj.org/article/bbd064334e3c44abbee70cb5d84f3100
Autor:
Liberty François-Moutal, David Donald Scott, Andrew J. Ambrose, Christopher J. Zerio, Marina Rodriguez-Sanchez, Kumara Dissanayake, Danielle G. May, Jacob M. Carlson, Edward Barbieri, Aubin Moutal, Kyle J. Roux, James Shorter, Rajesh Khanna, Sami J. Barmada, Leeanne McGurk, May Khanna
Publikováno v:
Scientific Reports, Vol 12, Iss 1, Pp 1-14 (2022)
Abstract Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease with no cure or effective treatment in which TAR DNA Binding Protein of 43 kDa (TDP-43) abnormally accumulates into misfolded protein aggregates in affected neurons. It
Externí odkaz:
https://doaj.org/article/15ebfd3809d6429cb150916d1d91bb88
Autor:
Gopinath Krishnan, Denitza Raitcheva, Daniel Bartlett, Mercedes Prudencio, Diane M. McKenna-Yasek, Catherine Douthwright, Björn E. Oskarsson, Shafeeq Ladha, Oliver D. King, Sami J. Barmada, Timothy M. Miller, Robert Bowser, Jonathan K. Watts, Leonard Petrucelli, Robert H. Brown, Mark W. Kankel, Fen-Biao Gao
Publikováno v:
Nature Communications, Vol 13, Iss 1, Pp 1-8 (2022)
The GGGGCC repeat expansion in C9ORF72-ALS/FTD can be translated into five dipeptide repeat (DPR) proteins, including poly(GR) and poly(GA). Here, the authors develop assays to detect the levels of these DPR proteins in the CSF of individuals with AL
Externí odkaz:
https://doaj.org/article/7bbca0a96b9d4736acc9cdb625fcce18
Autor:
Emile S. Pinarbasi, Sami J. Barmada
Publikováno v:
The Journal of Clinical Investigation, Vol 133, Iss 6 (2023)
A subset of the neurodegenerative disease frontotemporal lobar degeneration (FTLD) is caused by mutations in the progranulin (GRN) gene. In this issue of the JCI, Marsan and colleagues demonstrate disease-specific transcriptional profiles in multiple
Externí odkaz:
https://doaj.org/article/ca7ad0cd2d6d4310b109c3f4a390ca4d
Autor:
M. Rebecca Glineburg, Yuan Zhang, Amy Krans, Elizabeth M. Tank, Sami J. Barmada, Peter K. Todd
Publikováno v:
Acta Neuropathologica Communications, Vol 9, Iss 1, Pp 1-16 (2021)
Abstract Transcribed nucleotide repeat expansions form detectable RNA foci in patient cells that contribute to disease pathogenesis. The most widely used method for detecting RNA foci, fluorescence in situ hybridization (FISH), is powerful but can su
Externí odkaz:
https://doaj.org/article/9bd59746b3084fe38d5b6ce03d3e939e
Autor:
Fang He, Brittany N. Flores, Amy Krans, Michelle Frazer, Sam Natla, Sarjina Niraula, Olamide Adefioye, Sami J. Barmada, Peter K. Todd
Publikováno v:
Acta Neuropathologica Communications, Vol 8, Iss 1, Pp 1-17 (2020)
Abstract An intronic hexanucleotide repeat expansion in C9ORF72 causes familial and sporadic amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). This repeat is thought to elicit toxicity through RNA mediated protein sequestration a
Externí odkaz:
https://doaj.org/article/dd210e22a9564bf18e7a0e23570b79f3
Autor:
Lauren Herl Martens, Jiasheng Zhang, Sami J. Barmada, Ping Zhou, Sherry Kamiya, Binggui Sun, Sang-Won Min, Li Gan, Steven Finkbeiner, Eric J. Huang, Robert V. Farese Jr
Publikováno v:
The Journal of Clinical Investigation, Vol 132, Iss 1 (2022)
Externí odkaz:
https://doaj.org/article/e1a9c0e0f6b14866a258fab75e500c8f
Autor:
Ahmed M. Malik, Sami J. Barmada
Publikováno v:
JCI Insight, Vol 6, Iss 1 (2021)
RNA-binding proteins (RBPs) are essential factors required for the physiological function of neurons, muscle, and other tissue types. In keeping with this, a growing body of genetic, clinical, and pathological evidence indicates that RBP dysfunction
Externí odkaz:
https://doaj.org/article/8f4c04e9a1704a928d83b84fc8147404