Zobrazeno 1 - 10
of 95
pro vyhledávání: '"Sami J Barmada"'
Publikováno v:
eLife, Vol 7 (2018)
Abnormalities in nucleic acid processing are associated with the development of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). Mutations in Matrin 3 (MATR3), a poorly understood DNA- and RNA-binding protein, cause familial ALS
Externí odkaz:
https://doaj.org/article/bd94e4720db945cab0da54b4986177c0
Autor:
Sei-Kyoung Park, Joo Y Hong, Fatih Arslan, Vydehi Kanneganti, Basant Patel, Alex Tietsort, Elizabeth M H Tank, Xingli Li, Sami J Barmada, Susan W Liebman
Publikováno v:
PLoS Genetics, Vol 13, Iss 5, p e1006805 (2017)
Amyotrophic lateral sclerosis (ALS) is a devastating neurodegenerative disease characterized by selective loss of motor neurons with inclusions frequently containing the RNA/DNA binding protein TDP-43. Using a yeast model of ALS exhibiting TDP-43 dep
Externí odkaz:
https://doaj.org/article/c28ff73ebc9b458c8c669f2f26ffcbc2
Autor:
Brittany N Flores, Mark E Dulchavsky, Amy Krans, Michael R Sawaya, Henry L Paulson, Peter K Todd, Sami J Barmada, Magdalena I Ivanova
Publikováno v:
PLoS ONE, Vol 11, Iss 10, p e0165084 (2016)
Hexanucleotide repeat expansions in C9orf72 are the most common inherited cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). The expansions elicit toxicity in part through repeat-associated non-AUG (RAN) translation of th
Externí odkaz:
https://doaj.org/article/fe73098c17dd4b6d8f8a53920cde6af8
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:
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:
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:
Pedro Ervilha Pereira, Nika Schuermans, Antoon Meylemans, Pontus LeBlanc, Lauren Versluys, Katie E. Copley, Jack D. Rubien, Christopher Altheimer, Myra Peetermans, Elke Debackere, Olivier Vanakker, Sandra Janssens, Jonathan Baets, Kristof Verhoeven, Martin Lammens, Sofie Symoens, Boel De Paepe, Sami J. Barmada, James Shorter, Jan L. De Bleecker, Elke Bogaert, Bart Dermaut
Publikováno v:
Acta neuropathologica
ACTA NEUROPATHOLOGICA
ACTA NEUROPATHOLOGICA
Neuronal TDP-43-positive inclusions are neuropathological hallmark lesions in frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS). Pathogenic missense variants in TARDBP, the gene encoding TDP-43, can cause ALS and cluster in the C-
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6ce2536ee725ebb0ff9387b5a0fc0d42
https://doi.org/10.1007/s00401-023-02565-1
https://doi.org/10.1007/s00401-023-02565-1