Zobrazeno 1 - 10
of 12
pro vyhledávání: '"Carolina Gallego-Iradi"'
Autor:
Carolina Gallego-Iradi, Justin S. Bickford, Swati Khare, Alexis Hall, Jerelyn A. Nick, Donya Salmasinia, Kolja Wawrowsky, Serguei Bannykh, Duong P. Huynh, Diego E. Rincon-Limas, Stefan M. Pulst, Harry S. Nick, Pedro Fernandez-Funez, Michael F. Waters
Publikováno v:
Neurobiology of Disease, Vol 71, Iss , Pp 270-279 (2014)
Spinocerebellar ataxia 13 (SCA13) is an autosomal dominant disease resulting from mutations in KCNC3 (Kv3.3), a voltage-gated potassium channel. The KCNC3R420H mutation was first identified as causative for SCA13 in a four-generation Filipino kindred
Externí odkaz:
https://doaj.org/article/5548593220d541c0824122af6e6929c5
Autor:
M Carolina Gallego-Iradi, Alexis M Clare, Hilda H Brown, Christopher Janus, Jada Lewis, David R Borchelt
Publikováno v:
PLoS ONE, Vol 10, Iss 11, p e0142144 (2015)
Mutations in Matrin 3 [MATR3], an RNA- and DNA-binding protein normally localized to the nucleus, have been linked to amyotrophic lateral sclerosis (ALS) and distal myopathies. In the present study, we have used transient transfection of cultured cel
Externí odkaz:
https://doaj.org/article/ee9ff757edba4919afbe11983b73032d
Autor:
M. Carolina Gallego-Iradi, Edgardo Rodriguez-Lebron, Haley Strunk, Anthony M. Crown, Rachel Davila, David R. Borchelt, Hilda Brown
Publikováno v:
Laboratory investigation; a journal of technical methods and pathology
RNA binding proteins associated with amyotrophic lateral sclerosis (ALS) and muscle myopathy possess sequence elements that are low in complexity, or bear resemblance to yeast prion domains. These sequence elements appear to mediate phase separation
Autor:
Colin Duffy, Simon D'Alton, Mariela Cabrera, John Howard, Carolina Gallego-Iradi, Abigail R. Hernandez, David R. Borchelt, Keith Crosby, Sruti Rayaprolu, Christina Moloney, Zoe Siemienski, Jada Lewis
Publikováno v:
Journal of Comparative Neurology. 524:2740-2752
Mutations in the MATR3 gene encoding the nucleotide binding protein Matrin 3 have recently been identified as causing a subset of familial amyotrophic lateral sclerosis (fALS) and more rarely causing distal myopathy. Translating the identification of
Autor:
Maurice S. Swanson, Edgardo Rodriguez-Lebron, Rachel Davila, Hilda Brown, Jada Lewis, Judy C. Triplett, James D. Thomas, David R. Borchelt, M. Carolina Gallego Iradi, Anthony M. Crown, Guilian Xu
Publikováno v:
Scientific Reports
Scientific Reports, Vol 8, Iss 1, Pp 1-15 (2018)
Scientific Reports, Vol 8, Iss 1, Pp 1-15 (2018)
To understand how mutations in Matrin 3 (MATR3) cause amyotrophic lateral sclerosis (ALS) and distal myopathy, we used transcriptome and interactome analysis, coupled with microscopy. Over-expression of wild-type (WT) or F115C mutant MATR3 had little
Autor:
María Carolina Gallego Iradi, Frank J. Gunn-Moore, Simon Lovestone, Oksana Kaidanovich-Beilin, Danielle Gunn-Moore
Publikováno v:
Gunn-Moore, D, Kaidanovich-Beilin, O, Iradi, M C G, Gunn-Moore, F & Lovestone, S 2018, ' Alzheimer's disease in humans and other animals; a consequence of post-reproductive lifespan and longevity rather than ageing ', Alzheimer's & Dementia, vol. 14, no. 2, pp. 195-204 . https://doi.org/10.1016/j.jalz.2017.08.014
Research in the author’s laboratories is supported by the NIHR, MRC, ARUK, Alzheimer’s Society, Wellcome Trust and the EU Introduction Alzheimer's disease and diabetes mellitus are linked by epidemiology, genetics, and molecular pathogenesis. The
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f02211191a3f71580c2db5125a489c5f
https://doi.org/10.1016/j.jalz.2017.08.014
https://doi.org/10.1016/j.jalz.2017.08.014
Autor:
Sruti, Rayaprolu, Simon, D'Alton, Keith, Crosby, Christina, Moloney, John, Howard, Colin, Duffy, Mariela, Cabrera, Zoe, Siemienski, Abigail R, Hernandez, Carolina, Gallego-Iradi, David R, Borchelt, Jada, Lewis
Publikováno v:
The Journal of comparative neurology. 524(14)
Mutations in the MATR3 gene encoding the nucleotide binding protein Matrin 3 have recently been identified as causing a subset of familial amyotrophic lateral sclerosis (fALS) and more rarely causing distal myopathy. Translating the identification of
Autor:
Christopher Janus, Hilda Brown, David R. Borchelt, Jada Lewis, M. Carolina Gallego-Iradi, Alexis M. Clare
Publikováno v:
PLoS ONE, Vol 10, Iss 11, p e0142144 (2015)
PLoS ONE
PLoS ONE
Background Mutations in Matrin 3 [MATR3], an RNA- and DNA-binding protein normally localized to the nucleus, have been linked to amyotrophic lateral sclerosis (ALS) and distal myopathies. In the present study, we have used transient transfection of c
Autor:
Gunn‐Moore, Danièlle, Kaidanovich‐Beilin, Oksana, Iradi, María Carolina Gallego, Gunn‐Moore, Frank, Lovestone, Simon
Publikováno v:
Alzheimer's & Dementia: The Journal of the Alzheimer's Association; Feb2018, Vol. 14 Issue 2, p195-204, 10p
Autor:
Gallego-Iradi, M. Carolina, Strunk, Haley, Crown, Anthony M., Davila, Rachel, Brown, Hilda, Rodriguez-Lebron, Edgardo, Borchelt, David R.
Publikováno v:
Laboratory Investigation (00236837); Jul2019, Vol. 99 Issue 7, p1030-1040, 11p