Mutations in the profilin 1 gene cause familial amyotrophic lateral sclerosis
Mutations in the profilin 1 gene cause familial amyotrophic lateral sclerosis
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Author / Creator
Wu, Chi-Hong , Fallini, Claudia , Ticozzi, Nicola , Keagle, Pamela J. , Sapp, Peter C. , Piotrowska, Katarzyna , Lowe, Patrick , Koppers, Max , McKenna-Yasek, Diane , Baron, Desiree M. , Kost, Jason E. , Gonzalez-Perez, Paloma , Fox, Andrew D. , Adams, Jenni , Taroni, Franco , Tiloca, Cinzia , Leclerc, Ashley Lyn , Chafe, Shawn C. , Mangroo, Dev , Moore, Melissa J. , Zitzewitz, Jill A. , Xu, Zuo-Shang , van den Berg, Leonard H. , Glass, Jonathan D. , Siciliano, Gabriele , Cirulli, Elizabeth T. , Goldstein, David B. , Salachas, Francois , Meininger, Vincent , Rossoll, Wilfried , Ratti, Antonia , Gellera, Cinzia , Bosco, Daryl A. , Bassell, Gary J. , Silani, Vincenzo , Drory, Vivian E. , Brown Jr, Robert H. and Landers, John E.
Publisher
London: Nature Publishing Group UK
Journal title
Language
English
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Publication information
Publisher
London: Nature Publishing Group UK
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More information
Scope and Contents
Contents
Mutations in the profilin 1 (
PFN1
) gene, which is crucial for the conversion of monomeric to filamentous actin, can cause familial amyotrophic lateral sclerosis, suggesting that alterations in cytoskeletal pathways contribute to disease pathogenesis.
Genetics of familial amyotrophic lateral sclerosis
In nearly half of the familial cas...
Alternative Titles
Full title
Mutations in the profilin 1 gene cause familial amyotrophic lateral sclerosis
Authors, Artists and Contributors
Author / Creator
Fallini, Claudia
Ticozzi, Nicola
Keagle, Pamela J.
Sapp, Peter C.
Piotrowska, Katarzyna
Lowe, Patrick
Koppers, Max
McKenna-Yasek, Diane
Baron, Desiree M.
Kost, Jason E.
Gonzalez-Perez, Paloma
Fox, Andrew D.
Adams, Jenni
Taroni, Franco
Tiloca, Cinzia
Leclerc, Ashley Lyn
Chafe, Shawn C.
Mangroo, Dev
Moore, Melissa J.
Zitzewitz, Jill A.
Xu, Zuo-Shang
van den Berg, Leonard H.
Glass, Jonathan D.
Siciliano, Gabriele
Cirulli, Elizabeth T.
Goldstein, David B.
Salachas, Francois
Meininger, Vincent
Rossoll, Wilfried
Ratti, Antonia
Gellera, Cinzia
Bosco, Daryl A.
Bassell, Gary J.
Silani, Vincenzo
Drory, Vivian E.
Brown Jr, Robert H.
Landers, John E.
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_3575525
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_3575525
Other Identifiers
ISSN
0028-0836
E-ISSN
1476-4687
DOI
10.1038/nature11280
