Zobrazeno 1 - 10
of 13
pro vyhledávání: '"Yogesh K. Chutake"'
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:
Yogesh K Chutake, Whitney N Costello, Christina C Lam, Aniruddha C Parikh, Tamara T Hughes, Michael G Michalopulos, Mark A Pook, Sanjay I Bidichandani
Publikováno v:
PLoS ONE, Vol 10, Iss 9, p e0138437 (2015)
Friedreich ataxia is caused by an expanded GAA triplet-repeat sequence in intron 1 of the FXN gene that results in epigenetic silencing of the FXN promoter. This silencing mechanism is seen in patient-derived lymphoblastoid cells but it remains unkno
Externí odkaz:
https://doaj.org/article/0ab92220de4247fb913693acfaabd024
Autor:
Maureen P Daly, Janet C. Sherman, Yogesh K. Chutake, Jeremy D. Schmahmann, Eve M. Valera, Franziska Hoche
Publikováno v:
The Cerebellum. 18:225-244
Ataxia-telangiectasia (AT) is an autosomal recessive, multisystem disease causing cerebellar ataxia, mucocutaneous telangiectasias, immunodeficiency, and malignancies. A pilot study reported cognitive and behavioral manifestations characteristic of t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::fe7e070a21d32b3a719e9775974ae3e4
https://doi.org/10.1007/s12311-018-0983-9
https://doi.org/10.1007/s12311-018-0983-9
Publikováno v:
PLoS ONE, Vol 4, Iss 11, p e7914 (2009)
BACKGROUND:Over 15 inherited diseases are caused by expansion of triplet-repeats. Friedreich ataxia (FRDA) patients are homozygous for an expanded GAA triplet-repeat sequence in intron 1 of the FXN gene. The expanded GAA triplet-repeat results in def
Externí odkaz:
https://doaj.org/article/350b11df97204cef9b21b176cafc2de9
Autor:
Franziska, Hoche, Maureen P, Daly, Yogesh K, Chutake, Eve, Valera, Janet C, Sherman, Jeremy D, Schmahmann
Publikováno v:
Cerebellum (London, England). 18(2)
Ataxia-telangiectasia (AT) is an autosomal recessive, multisystem disease causing cerebellar ataxia, mucocutaneous telangiectasias, immunodeficiency, and malignancies. A pilot study reported cognitive and behavioral manifestations characteristic of t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::dc65364313921706186d6eef092a8bad
https://pubmed.ncbi.nlm.nih.gov/30338439
https://pubmed.ncbi.nlm.nih.gov/30338439
Autor:
Michael P. Anderson, Whitney N. Costello, Yogesh K. Chutake, Sanjay I. Bidichandani, Christina C. Lam
Publikováno v:
Annals of Neurology. 76:522-528
Objective Friedreich ataxia (FRDA) is caused by an expanded GAA triplet-repeat (GAA-TR) mutation in the FXN gene. Patients are typically homozygous for expanded alleles containing 100 to 1,300 triplets, and phenotypic severity is significantly correl
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::697bdc53425cda8f2c12fc2dec74b41e
https://doi.org/10.1002/ana.24249
https://doi.org/10.1002/ana.24249
Publikováno v:
The Journal of Biological Chemistry
Background: Friedreich ataxia (FRDA) is caused by an expanded GAA triplet repeat (GAA-TR) mutation that results in FXN transcriptional deficiency. Results: Repressive chromatin spreads from the expanded GAA-TR mutation, switching off the FXN gene pro
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6f75cc9eb2a1c0fef6cb154ca78748a3
https://doi.org/10.1074/jbc.m114.566414
https://doi.org/10.1074/jbc.m114.566414
Autor:
Whitney N. Costello, Christina C. Lam, Yogesh K. Chutake, Michael P. Anderson, Sanjay I. Bidichandani
Publikováno v:
Nucleic Acids Research
Friedreich ataxia, the most prevalent inherited ataxia, is caused by an expanded GAA triplet-repeat sequence in intron 1 of the FXN gene. Repressive chromatin spreads from the expanded GAA triplet-repeat sequence to cause epigenetic silencing of the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::311825b9bc7ce80c5d68a2125e27d7d3
https://pubmed.ncbi.nlm.nih.gov/26896803
https://pubmed.ncbi.nlm.nih.gov/26896803
Autor:
Mark A. Pook, Vahid Ezzatizadeh, Madhavi Sandi, Sara Anjomani Virmouni, Sahar Al-Mahdawi, Chiranjeevi Sandi, Yogesh K. Chutake
Publikováno v:
Disease Models & Mechanisms
Disease Models & Mechanisms, Vol 8, Iss 3, Pp 225-235 (2015)
Disease Models & Mechanisms, Vol 8, Iss 3, Pp 225-235 (2015)
Copyright © 2015 The Author(s). Friedreich's ataxia (FRDA) is an autosomal recessive neurodegenerative disorder caused by a GAA repeat expansion mutation within intron 1 of the FXN gene, resulting in reduced levels of frataxin protein. We have previ
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7b7f231c53e5789f12cee68454d68ac0
https://doi.org/10.1242/dmm.018952
https://doi.org/10.1242/dmm.018952
Autor:
Mark A. Pook, Sanjay I. Bidichandani, Yogesh K. Chutake, Aniruddha C. Parikh, Whitney N. Costello, Tamara T. Hughes, Christina C. Lam, Michael G. Michalopulos
Publikováno v:
PLoS ONE
PLoS ONE, Vol 10, Iss 9, p e0138437 (2015)
PLoS ONE, Vol 10, Iss 9, p e0138437 (2015)
Background - Friedreich ataxia is caused by an expanded GAA triplet-repeat sequence in intron 1 of the FXN gene that results in epigenetic silencing of the FXN promoter. This silencing mechanism is seen in patient-derived lymphoblastoid cells but it
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0f0fbd9b649f2ed2f76c72160127ec02
http://bura.brunel.ac.uk/handle/2438/11599
http://bura.brunel.ac.uk/handle/2438/11599
