Výsledky vyhledávání - "Carolina Gallego-Iradi"

Akademický článek

KCNC3R420H, a K+ channel mutation causative in spinocerebellar ataxia 13 displays aberrant intracellular trafficking

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

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Akademický článek

Subcellular Localization of Matrin 3 Containing Mutations Associated with ALS and Distal Myopathy.

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

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N-terminal sequences in Matrin 3 mediate phase separation into droplet-like structures that recruit TDP43 variants lacking RNA binding elements

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

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2fbc6bc96c67e5a52cfaac015f312e1f
http://europepmc.org/articles/PMC6857798

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Heterogeneity of Matrin 3 in the developing and aging murine central nervous system

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

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::6e4dce83b4fe786b38162e6c32a91f2a
https://doi.org/10.1002/cne.23986

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Characterization of gene regulation and protein interaction networks for Matrin 3 encoding mutations linked to amyotrophic lateral sclerosis and myopathy

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)

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

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3fac6ff3e3fd9b621ae742bda60fe282
https://pubmed.ncbi.nlm.nih.gov/29511296

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Alzheimer’s disease in humans and other animals; a consequence of post-reproductive lifespan and longevity rather than ageing

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

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Heterogeneity of Matrin 3 in the developing and aging murine central nervous system

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)

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::7e3392f81bea97361785deefd96e16b4
https://pubmed.ncbi.nlm.nih.gov/26878116

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Subcellular Localization of Matrin 3 Containing Mutations Associated with ALS and Distal Myopathy

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

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

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::816a17c4eae7e2332bd838add424de2e
http://europepmc.org/articles/PMC4631352?pdf=render

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KCNC3R420H, a K+ Channel Mutation Causative in Spinocerebellar Ataxia 13 Displays Aberrant Intracellular Trafficking

Autor: Pedro Fernandez-Funez, Carolina Gallego-Iradi, Duong P. Huynh, Serguei Bannykh, Harry S. Nick, Jerelyn A. Nick, Diego E. Rincon-Limas, Michael F. Waters, Kolja Wawrowsky, Donya Salmasinia, Swati Khare, Justin S. Bickford, Stefan M. Pulst, Alexis Hall

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 KCNC3(R420H) mutation was first identified as causative for SCA13 in a four-generation Filipino kindr

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::704dab6bd10dbbf3eea0d22c465f68ac
https://europepmc.org/articles/PMC4181561/

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