Zobrazeno 1 - 10
of 60
pro vyhledávání: '"Sahar Al-Mahdawi"'
Autor:
Ester Kalef-Ezra, Fred Jonathan Edzeamey, Adamo Valle, Hassan Khonsari, Paula Kleine, Carlo Oggianu, Sahar Al-Mahdawi, Mark A. Pook, Sara Anjomani Virmouni
Publikováno v:
Frontiers in Neuroscience, Vol 17 (2023)
IntroductionFriedreich’s ataxia (FRDA) is an inherited recessive neurodegenerative disorder caused by a homozygous guanine-adenine-adenine (GAA) repeat expansion within intron 1 of the FXN gene, which encodes the essential mitochondrial protein fra
Externí odkaz:
https://doaj.org/article/536964334c104f74840ef5dd71a79726
Autor:
Rosella Abeti, Mittal Jasoliya, Sahar Al-Mahdawi, Mark Pook, Cristina Gonzalez-Robles, Chun Kiu Hui, Gino Cortopassi, Paola Giunti
Publikováno v:
Frontiers in Molecular Biosciences, Vol 9 (2022)
Friedreich’s ataxia (FA) is an inherited multisystemic neuro- and cardio-degenerative disorder. Seventy-four clinical trials are listed for FA (including past and present), but none are considered FDA/EMA-approved therapy. To date, FA therapeutic s
Externí odkaz:
https://doaj.org/article/dda4674985d74004abe28af246f53445
Autor:
Mursal Sherzai, Adamo Valle, Nicholas Perry, Ester Kalef-Ezra, Sahar Al-Mahdawi, Mark Pook, Sara Anjomani Virmouni
Publikováno v:
Frontiers in Genetics, Vol 11 (2020)
Friedreich’s ataxia (FRDA) is a progressive neurodegenerative disorder caused by a homozygous GAA repeat expansion mutation in intron 1 of the frataxin gene (FXN), which instigates reduced transcription. As a consequence, reduced levels of frataxin
Externí odkaz:
https://doaj.org/article/1468f661eccb4df3ac3bbd6f101a879e
Autor:
Sahar Al-Mahdawi, Heather Ging, Aurelien Bayot, Francesca Cavalcanti, Valentina La Cognata, Sebastiano Cavallaro, Paola Giunti, Mark A. Pook
Publikováno v:
Frontiers in Cellular Neuroscience, Vol 12 (2018)
Friedreich ataxia is a multi-system autosomal recessive inherited disorder primarily caused by homozygous GAA repeat expansion mutations within intron 1 of the frataxin gene. The resulting deficiency of frataxin protein leads to progressive mitochond
Externí odkaz:
https://doaj.org/article/16446b7e2f3840069890344f2540efe4
Autor:
Sara Anjomani Virmouni, Vahid Ezzatizadeh, Chiranjeevi Sandi, Madhavi Sandi, Sahar Al-Mahdawi, Yogesh Chutake, Mark A. Pook
Publikováno v:
Disease Models & Mechanisms, Vol 8, Iss 3, Pp 225-235 (2015)
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 previously reported the generation o
Externí odkaz:
https://doaj.org/article/89c995e9dfdf4e7dac24ee2d684a5582
Autor:
Vahid Ezzatizadeh, Ricardo Mouro Pinto, Chiranjeevi Sandi, Madhavi Sandi, Sahar Al-Mahdawi, Hein te Riele, Mark A. Pook
Publikováno v:
Neurobiology of Disease, Vol 46, Iss 1, Pp 165-171 (2012)
Friedreich ataxia (FRDA) is an autosomal recessive neurodegenerative disorder caused by a dynamic GAA repeat expansion mutation within intron 1 of the FXN gene. Studies of mouse models for other trinucleotide repeat (TNR) disorders have revealed an i
Externí odkaz:
https://doaj.org/article/f17a324ce6544905b0dc747a1ee23fe9
Autor:
Chiranjeevi Sandi, Ricardo Mouro Pinto, Sahar Al-Mahdawi, Vahid Ezzatizadeh, Glenn Barnes, Steve Jones, James R. Rusche, Joel M. Gottesfeld, Mark A. Pook
Publikováno v:
Neurobiology of Disease, Vol 42, Iss 3, Pp 496-505 (2011)
Friedreich ataxia (FRDA) is an inherited neurodegenerative disorder caused by GAA repeat expansion within the FXN gene, leading to epigenetic changes and heterochromatin-mediated gene silencing that result in a frataxin protein deficit. Histone deace
Externí odkaz:
https://doaj.org/article/73e3e0772ba54164838e35e8fce53c36
Publikováno v:
PLoS ONE, Vol 9, Iss 9, p e107416 (2014)
BACKGROUND:Friedreich ataxia (FRDA) is an autosomal recessive neurodegenerative disorder, caused by a GAA repeat expansion mutation within intron 1 of the FXN gene. We have previously established and performed preliminary characterisation of several
Externí odkaz:
https://doaj.org/article/26fa0dba4d134cdcb91208030595b9a9
Autor:
Chiranjeevi Sandi, Madhavi Sandi, Harvinder Jassal, Vahid Ezzatizadeh, Sara Anjomani-Virmouni, Sahar Al-Mahdawi, Mark A Pook
Publikováno v:
PLoS ONE, Vol 9, Iss 2, p e89488 (2014)
Friedreich ataxia (FRDA) is an autosomal recessive neurodegenerative disease caused by GAA repeat expansion in the first intron of the FXN gene, which encodes frataxin, an essential mitochondrial protein. To further characterise the molecular abnorma
Externí odkaz:
https://doaj.org/article/7ad6125d02434605be088f88ae8915fc
Autor:
Vahid Ezzatizadeh, Chiranjeevi Sandi, Madhavi Sandi, Sara Anjomani-Virmouni, Sahar Al-Mahdawi, Mark A Pook
Publikováno v:
PLoS ONE, Vol 9, Iss 6, p e100523 (2014)
Friedreich ataxia (FRDA), the most common autosomal recessive ataxia disorder, is caused by a dynamic GAA repeat expansion mutation within intron 1 of FXN gene, resulting in down-regulation of frataxin expression. Studies of cell and mouse models hav
Externí odkaz:
https://doaj.org/article/0618f478c8e642a89fcac2fcf4beff20