Zobrazeno 1 - 10
of 10
pro vyhledávání: '"Ian Casci"'
Autor:
Ian Casci, Karthik Krishnamurthy, Sukhleen Kour, Vadreenath Tripathy, Nandini Ramesh, Eric N. Anderson, Lara Marrone, Rogan A. Grant, Stacie Oliver, Lauren Gochenaur, Krishani Patel, Jared Sterneckert, Amanda M. Gleixner, Christopher J. Donnelly, Marc-David Ruepp, Antonella M. Sini, Emanuela Zuccaro, Maria Pennuto, Piera Pasinelli, Udai Bhan Pandey
Publikováno v:
Nature Communications, Vol 10, Iss 1, Pp 1-20 (2019)
The exact molecular mechanisms driving FUS-mediated toxicity remain unclear. Here, the authors demonstrate that muscleblind (Mbl) is a novel modifier of FUS-associated ALS, with knockdown of endogenous Mbl suppressing neuromuscular junction defects a
Externí odkaz:
https://doaj.org/article/808f528e987e4f6fbf0a7d25207ff6ed
Autor:
Lara Marrone, Ina Poser, Ian Casci, Julia Japtok, Peter Reinhardt, Antje Janosch, Cordula Andree, Hyun O. Lee, Claudia Moebius, Ellen Koerner, Lydia Reinhardt, Maria Elena Cicardi, Karl Hackmann, Barbara Klink, Angelo Poletti, Simon Alberti, Marc Bickle, Andreas Hermann, Udai Bhan Pandey, Anthony A. Hyman, Jared L. Sterneckert
Publikováno v:
Stem Cell Reports, Vol 10, Iss 2, Pp 375-389 (2018)
Summary: Perturbations in stress granule (SG) dynamics may be at the core of amyotrophic lateral sclerosis (ALS). Since SGs are membraneless compartments, modeling their dynamics in human motor neurons has been challenging, thus hindering the identif
Externí odkaz:
https://doaj.org/article/8c3c165643d94092bf3823929978ee6c
Autor:
Chiara Scaramuzzino, John Monaghan, Carmelo Milioto, Nicholas A Lanson, Astha Maltare, Tanya Aggarwal, Ian Casci, Frank O Fackelmayer, Maria Pennuto, Udai Bhan Pandey
Publikováno v:
PLoS ONE, Vol 8, Iss 4, p e61576 (2013)
Amyotrophic lateral sclerosis (ALS) is a late onset and progressive motor neuron disease. Mutations in the gene coding for fused in sarcoma/translocated in liposarcoma (FUS) are responsible for some cases of both familial and sporadic forms of ALS. T
Externí odkaz:
https://doaj.org/article/f392f87f2ed8407bad15d1ff3fc80eb9
Autor:
Ian Casci, Angelo Poletti, Julia Japtok, Claudia Moebius, Karl Hackmann, Marc Bickle, Udai Bhan Pandey, Barbara Klink, Ellen Koerner, Lydia Reinhardt, Antje Janosch, Anthony A. Hyman, Andreas Hermann, Simon Alberti, Lara Marrone, Cordula Andree, Jared Sterneckert, Peter Reinhardt, Ina Poser, Hyun O. Lee, Maria Elena Cicardi
Publikováno v:
Stem Cell Reports
Stem Cell Reports, Vol 10, Iss 2, Pp 375-389 (2018)
Stem cell reports 10(2), 375-389 (2018). doi:10.1016/j.stemcr.2017.12.018
Stem Cell Reports, Vol 10, Iss 2, Pp 375-389 (2018)
Stem cell reports 10(2), 375-389 (2018). doi:10.1016/j.stemcr.2017.12.018
Summary Perturbations in stress granule (SG) dynamics may be at the core of amyotrophic lateral sclerosis (ALS). Since SGs are membraneless compartments, modeling their dynamics in human motor neurons has been challenging, thus hindering the identifi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::367a59d6fc57ca1ec0aeef1d84ed53ba
https://doi.org/10.1016/j.stemcr.2017.12.018
https://doi.org/10.1016/j.stemcr.2017.12.018
Autor:
Beth S. Torchia, J. Britt Ravnan, Aaron Theisen, Ian Casci, Bassem A. Bejjani, Nicholas J. Neill, Jill A. Rosenfeld, Roger A. Schultz, Trilochan Sahoo, Lisa G. Shaffer, Allen N. Lamb
Publikováno v:
Genetics in Medicine. 13:868-880
Purpose: Recently, molecular cytogenetic techniques have identified novel copy number variants in individuals with schizophrenia. However, no large-scale prospective studies have been performed to characterize the broader spectrum of phenotypes assoc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ac728dfaa780c9e8e15234b594d85dbc
https://doi.org/10.1097/gim.0b013e3182217a06
https://doi.org/10.1097/gim.0b013e3182217a06
Autor:
Earl W. Godfrey, Kevin McAvoy, Karthik Krishnamurthy, Dianne C. Daniel, J. Gavin Daigle, Edward M. Johnson, Piera Pasinelli, Nandini Ramesh, Ian Casci, John Monaghan, Frank Shewmaker, Udai Bhan Pandey, Zachary T. Monahan
Publikováno v:
Acta neuropathologica. 131(4)
Amyotrophic lateral sclerosis is characterized by progressive loss of motor neurons in the brain and spinal cord. Mutations in several genes, including FUS, TDP43, Matrin 3, hnRNPA2 and other RNA-binding proteins, have been linked to ALS pathology. R
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2f5bac22483e349d963bed9bd2fe9e42
https://pubmed.ncbi.nlm.nih.gov/26728149
https://pubmed.ncbi.nlm.nih.gov/26728149
Autor:
J. Paul Taylor, Frank O. Fackelmayer, Manuela Basso, Udai Bhan Pandey, Fabio Sambataro, Sara Parodi, Mathilde Chivet, Nisha M. Badders, Chiara Scaramuzzino, Carmelo Milioto, Christopher Grunseich, John Monaghan, María José Polanco, Maria Pennuto, Patricia M.-J. Lievens, Ashutosh Mishra, Ian Casci, Tanya Aggarwal
Publikováno v:
Neuron
Summary Polyglutamine expansion in androgen receptor (AR) is responsible for spinobulbar muscular atrophy (SBMA) that leads to selective loss of lower motor neurons. Using SBMA as a model, we explored the relationship between protein structure/functi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fa93981b65a045bd03135bc6373fec5a
http://www.sciencedirect.com/science/article/pii/S0896627314011404
http://www.sciencedirect.com/science/article/pii/S0896627314011404
Publikováno v:
American journal of medical genetics. Part A. (5)
Unexpected Exome Sequencing Result: De Novo TRPS1 Mutation in an Infant With Infantile Scoliosis, Mild Developmental Delay, and History of Consanguinity Ian Casci, William Accousti, and Yves Lacassie* Department of Genetics, LSU Health Sciences Cente
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3778a67ba27f0d7c0511dbbf9726a4fc
https://pubmed.ncbi.nlm.nih.gov/24648374
https://pubmed.ncbi.nlm.nih.gov/24648374
Autor:
Nicholas A. Lanson, Udai Bhan Pandey, Ian Casci, Astha Maltare, Maria Pennuto, Chiara Scaramuzzino, Carmelo Milioto, Frank O. Fackelmayer, Tanya Aggarwal, John Monaghan
Publikováno v:
PLoS ONE, Vol 8, Iss 4, p e61576 (2013)
PLoS ONE
PLoS ONE
Amyotrophic lateral sclerosis (ALS) is a late onset and progressive motor neuron disease. Mutations in the gene coding for fused in sarcoma/translocated in liposarcoma (FUS) are responsible for some cases of both familial and sporadic forms of ALS. T
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7e10106b8ceeaa195a26696a85cc132a
http://europepmc.org/articles/PMC3631215?pdf=render
http://europepmc.org/articles/PMC3631215?pdf=render
Autor:
John Monaghan, Dmitri Kryndushkin, Udai Bhan Pandey, Ian Casci, Frank Shewmaker, Nicholas A. Lanson, Rebecca B. Smith, Charles D. Nichols, J. Gavin Daigle, Astha Maltare
Amyotrophic lateral sclerosis (ALS) is an uncommon neurodegenerative disease caused by degeneration of upper and lower motor neurons. Several genes, including SOD1, TDP-43, FUS, Ubiquilin 2, C9orf72 and Profilin 1, have been linked with the sporadic
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4b50ae45710ac9c62c858579e7f76d9b
https://europepmc.org/articles/PMC3578413/
https://europepmc.org/articles/PMC3578413/