Zobrazeno 1 - 10
of 36
pro vyhledávání: '"Elisabetta Soragni"'
Autor:
Layne N. Rodden, Christian Rummey, Yi Na Dong, Sarah Lagedrost, Sean Regner, Alicia Brocht, Khalaf Bushara, Martin B. Delatycki, Christopher M. Gomez, Katherine Mathews, Sarah Murray, Susan Perlman, Bernard Ravina, S. H. Subramony, George Wilmot, Theresa Zesiewicz, Alessandra Bolotta, Alain Domissy, Christine Jespersen, Baohu Ji, Elisabetta Soragni, Joel M. Gottesfeld, David R. Lynch
Publikováno v:
Frontiers in Molecular Biosciences, Vol 9 (2022)
Introduction: Friedreich ataxia (FRDA) is a recessive neurodegenerative disease characterized by progressive ataxia, dyscoordination, and loss of vision. The variable length of the pathogenic GAA triplet repeat expansion in the FXN gene in part expla
Externí odkaz:
https://doaj.org/article/fc3b8365f48643339b44ac26a1d1ebf4
Publikováno v:
Pharmaceuticals, Vol 4, Iss 12, Pp 1578-1590 (2011)
Friedreich’s ataxia (FRDA) is caused by transcriptional repression of the nuclear FXN gene encoding the essential mitochondrial protein frataxin. Based on the hypothesis that the acetylation state of the histone proteins is responsible for gene sil
Externí odkaz:
https://doaj.org/article/14df0754ad924544837a78138dbd98b9
Autor:
Myriam Rai, Elisabetta Soragni, C James Chou, Glenn Barnes, Steve Jones, James R Rusche, Joel M Gottesfeld, Massimo Pandolfo
Publikováno v:
PLoS ONE, Vol 5, Iss 1, p e8825 (2010)
Friedreich's ataxia (FRDA), the most common recessive ataxia in Caucasians, is due to severely reduced levels of frataxin, a highly conserved protein, that result from a large GAA triplet repeat expansion within the first intron of the frataxin gene
Externí odkaz:
https://doaj.org/article/9d00ccdb9c5a40f78f73e3a342080b57
Autor:
Myriam Rai, Elisabetta Soragni, Kai Jenssen, Ryan Burnett, David Herman, Giovanni Coppola, Daniel H Geschwind, Joel M Gottesfeld, Massimo Pandolfo
Publikováno v:
PLoS ONE, Vol 3, Iss 4, p e1958 (2008)
BACKGROUND: Friedreich ataxia, an autosomal recessive neurodegenerative and cardiac disease, is caused by abnormally low levels of frataxin, an essential mitochondrial protein. All Friedreich ataxia patients carry a GAATTC repeat expansion in the fir
Externí odkaz:
https://doaj.org/article/931ba0aa61da4772a4a3ab4076777ed0
Autor:
Yogesh K. Chutake, Christina Lam, Matthew Gilliam, Layne N. Rodden, Lauren A. Hauser, David A. Lynch, Sanjay I. Bidichandani, Kaitlyn M. Gilliam, Joel M. Gottesfeld, Graham B. Wiley, Elisabetta Soragni, Michael P. Anderson
Publikováno v:
Human Molecular Genetics
Friedreich ataxia (FRDA) is typically caused by homozygosity for an expanded GAA triplet-repeat in intron 1 of the FXN gene, which results in transcriptional deficiency via epigenetic silencing. Most patients are homozygous for alleles containing > 5
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d48becc41650ce92ac04e7430ae01ef6
https://doi.org/10.1093/hmg/ddaa267
https://doi.org/10.1093/hmg/ddaa267
Autor:
Benjamin Throesch, Joel M. Gottesfeld, Kristin K. Baldwin, Jiun I. Lai, Giovanni Coppola, Elisabetta Soragni, Lina Petrosyan, Daniel Nachun, Fuying Gao, Erica Campau
Publikováno v:
The Journal of biological chemistry. 294(6)
Friedreich ataxia (FRDA) is a neurodegenerative disorder caused by transcriptional silencing of the frataxin (FXN) gene, resulting in loss of the essential mitochondrial protein frataxin. Based on the knowledge that a GAA·TTC repeat expansion in the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8618c410a0554856b70fe65331cf64e2
https://pubmed.ncbi.nlm.nih.gov/30552117
https://pubmed.ncbi.nlm.nih.gov/30552117
Autor:
Jiun-I Lai, Erica Campau, Fuying Gao, Daniel Nachun, Joel M. Gottesfeld, Benjamin Throesch, Kristin K. Baldwin, Giovanni Coppola, Elisabetta Soragni, Lina Petrosyan
Friedreich ataxia (FRDA) is a rare childhood neurodegenerative disorder with no effective treatment. FRDA is caused by transcriptional silencing of the FXN gene and consequent loss of the essential mitochondrial protein frataxin. Based on the knowled
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::399c21b4598faf7155376d5e20325890
https://doi.org/10.1101/457093
https://doi.org/10.1101/457093
Autor:
Joel M. Gottesfeld, Elisabetta Soragni
Publikováno v:
Expert opinion on orphan drugs. 4(9)
Introduction: Friedreich ataxia (FRDA) is an autosomal recessive neurodegenerative disease caused by expansion of a GAA·TTC triplet in the first intron of the FXN gene, encoding the essential mitochondrial protein frataxin. Repeat expansion results
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5bf9df4254749fe1559116fc2ec345ff
https://pubmed.ncbi.nlm.nih.gov/28392990
https://pubmed.ncbi.nlm.nih.gov/28392990
Autor:
Jeanne F. Loring, Wenyan Miao, Elisabetta Soragni, Myriam Rai, Pablo Penalver, Joseph C. Madara, David Jacoby, Joel M. Gottesfeld, Massimo Pandolfo, Stefania Federica De Mercanti, Jintang Du, Filomena Longo, James R. Rusche, Melinda O'Connor, Antonio Piga, Kristopher L. Nazor, Sherman Ku, Marco Iudicello, Anton Maximov, L. Durelli, Marinella Clerico, Erica Campau
Publikováno v:
Annals of Neurology. 76:489-508
Friedreich ataxia (FRDA; Online Mendelian Inheritance in Man database #229300) is an autosomal recessive inherited degenerative disorder affecting the nervous system and the heart, with a prevalence of approximately 2 to 3 in 100,000 in North America
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::69ea804bced20fdf216b7ae81cdbe7c9
https://doi.org/10.1002/ana.24260
https://doi.org/10.1002/ana.24260
Publikováno v:
Human Molecular Genetics. 22:5276-5287
Myotonic dystrophy type 1 (DM1) is an inherited dominant muscular dystrophy caused by expanded CTG·CAG triplet repeats in the 3' untranslated region of the DMPK1 gene, which produces a toxic gain-of-function CUG RNA. It has been shown that the sever
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9fe51478477ce266f9c2accdc384ad23
https://doi.org/10.1093/hmg/ddt386
https://doi.org/10.1093/hmg/ddt386