نتایج جستجو برای: ژن fxn

تعداد نتایج: 16212  

Journal: :Human molecular genetics 2013
Ping K Chan Raul Torres Cihangir Yandim Pui P Law Sanjay Khadayate Marta Mauri Crina Grosan Nadine Chapman-Rothe Paola Giunti Mark Pook Richard Festenstein

Large intronic expansions of the triplet-repeat sequence (GAA.TTC) cause transcriptional repression of the Frataxin gene (FXN) leading to Friedreich's ataxia (FRDA). We previously found that GAA-triplet expansions stimulate heterochromatinization in vivo in transgenic mice. We report here using chromosome conformation capture (3C) coupled with high-throughput sequencing that the GAA-repeat expa...

Journal: :The Journal of neuroscience : the official journal of the Society for Neuroscience 2012
Lata H Mahishi Ronald P Hart David R Lynch Rajiv R Ratan

Friedreich ataxia (FRDA) is the most common inherited ataxia caused primarily by an intronic GAA.TTC triplet repeat expansion in the frataxin (FXN) gene. FXN RNA and protein levels are reduced in patients leading to progressive gait and limb ataxia, sensory loss, reduced tendon reflexes, dysarthria, absent lower limb reflexes, and loss of position and vibration sense. Neurological manifestation...

2014
Ana R. Correia Subhashchandra Naik Mark T. Fisher Cláudio M. Gomes

Numerous human diseases are caused by protein folding defects where the protein may become more susceptible to degradation or aggregation. Aberrant protein folding can affect the kinetic stability of the proteins even if these proteins appear to be soluble in vivo. Experimental discrimination between functional properly folded and misfolded nonfunctional conformers is not always straightforward...

2013
Aurélien Bayot Pierre Rustin

"Frataxin fracas" were the words used when referring to the frataxin-encoding gene (FXN) burst in as a motive to disqualify an alternative candidate gene, PIP5K1B, as an actor in Friedreich's ataxia (FRDA) (Campuzano et al., 1996; Cossee et al., 1997; Carvajal et al., 1996). The instrumental role in the disease of large triplet expansions in the first intron of FXN has been thereafter fully con...

2017
Jill Sergesketter Napierala Yanjie Li Yue Lu Kevin Lin Lauren A Hauser David R Lynch Marek Napierala

Friedreich's ataxia (FRDA) is an autosomal recessive neurodegenerative disease usually caused by large homozygous expansions of GAA repeat sequences in intron 1 of the frataxin (FXN) gene. FRDA patients homozygous for GAA expansions have low FXN mRNA and protein levels when compared with heterozygous carriers or healthy controls. Frataxin is a mitochondrial protein involved in iron-sulfur clust...

2013
Ae Wha Ha Woo Kyoung Kim

This study determined the effects of fucoxanthin on gene expressions related to lipid metabolism in rats with a high-fat diet. Rats were fed with normal fat diet (NF, 7% fat) group, high fat diet group (HF, 20% fat), and high fat with 0.2% fucoxanthin diet group (HF+Fxn) for 4 weeks. Body weight changes and lipid profiles in plasma, liver, and feces were determined. The mRNA expressions of tran...

Journal: :Human molecular genetics 2013
Aurélien Bayot Sacha Reichman Sophie Lebon Zsolt Csaba Laetitia Aubry Ghislaine Sterkers Isabelle Husson Malgorzata Rak Pierre Rustin

Friedreich's ataxia (FRDA) is a progressive neurodegenerative disease characterized by ataxia, variously associating heart disease, diabetes mellitus and/or glucose intolerance. It results from intronic expansion of GAA triplet repeats at the FXN locus. Homozygous expansions cause silencing of the FXN gene and subsequent decreased expression of the encoded mitochondrial frataxin. Detailed analy...

2016
Kuchuan Chen Guang Lin Nele A Haelterman Tammy Szu-Yu Ho Tongchao Li Zhihong Li Lita Duraine Brett H Graham Manish Jaiswal Shinya Yamamoto Matthew N Rasband Hugo J Bellen

Mutations in Frataxin (FXN) cause Friedreich's ataxia (FRDA), a recessive neurodegenerative disorder. Previous studies have proposed that loss of FXN causes mitochondrial dysfunction, which triggers elevated reactive oxygen species (ROS) and leads to the demise of neurons. Here we describe a ROS independent mechanism that contributes to neurodegeneration in fly FXN mutants. We show that loss of...

2017
Amanda R. Stram Gregory R. Wagner Brian D. Fogler P. Melanie Pride Matthew D. Hirschey R. Mark Payne

INTRODUCTION The childhood heart disease of Friedreich's Ataxia (FRDA) is characterized by hypertrophy and failure. It is caused by loss of frataxin (FXN), a mitochondrial protein involved in energy homeostasis. FRDA model hearts have increased mitochondrial protein acetylation and impaired sirtuin 3 (SIRT3) deacetylase activity. Protein acetylation is an important regulator of cardiac metaboli...

2012
Haiyan Xia Yun Cao Xiaoman Dai Zvonimir Marelja Di Zhou Ran Mo Sahar Al-Mahdawi Mark A. Pook Silke Leimkühler Tracey A. Rouault Kuanyu Li

Friedreich ataxia (FRDA) is an inherited neurodegenerative disease caused by frataxin (FXN) deficiency. The nervous system and heart are the most severely affected tissues. However, highly mitochondria-dependent tissues, such as kidney and liver, are not obviously affected, although the abundance of FXN is normally high in these tissues. In this study we have revealed two novel FXN isoforms (II...

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