نتایج جستجو برای: ژن fxn

تعداد نتایج: 16212  

2011
S. Marlin L. Jonard N. Loundon C. Bonnet N. Leboulanger L. Van Maldergem S. Gherbi M. Louha P. Deltenre J. L. Collette R. Couderc E. N. Garabedian F. Denoyelle Sandrine Marlin

Auditory neuropathy (AN) is defined as a sensorineural hearing impairment (HI) characterized by preserved cochlear outer hair cell function with normal otoacoustic emissions but abnormal or absent brainstem evoked potentials. The prevalence of AN in HIs remains to be established and its pathophysiology has not been determined. Several environmental and genetic causes have been identified, but t...

Journal: :World Journal of Microbiology & Biotechnology 2021

Ampicillin sodium salt (AMP) is commonly and effectively used to prevent bacterial infection in algal culture, but the response of strains AMP has not been investigated. In this study, Chlorella sorokiniana was selected evaluate influence on algae. enhanced contents chlorophyll two fatty acids, myristic acid (C22:1N9) tetracosanoic (C6:0), inhibited growth, carotenoid production, 16 acids C. so...

Journal: :Applied Mathematics and Computation 2012
Jordi Villadelprat

We study the bifurcation of local critical periods in the differential system { ẋ = −y +Bxn−1y, ẏ = x+Dx + Fxn−2y2, where B,D,F ∈ R and n > 3 is a fixed natural number. Here by “local” we mean in a neighbourhood of the center at the origin. For n even we show that at most two local critical periods bifurcate from a weak center of finite order or from the linear isochrone, and at most one local ...

2014
Hemant Kumar Nashine Zoran Kadelburg Poom Kumam

and Applied Analysis 3 relations on metric spaces have been used in many articles for details see 14–19 and references cited therein . In this section, we define a suitable implicit function involving six real nonnegative arguments to prove our results, that was given in 20 . Let R denote the nonnegative real numbers and let T be the set of all continuous functions T : R6 → R satisfying the fol...

2015
Duncan E. Crombie Nicole Van Bergen Kathryn C. Davidson Sara Anjomani Virmouni Penny A. Mckelvie Vicki Chrysostomou Alison Conquest Louise A. Corben Mark A. Pook Tejal Kulkarni Ian A. Trounce Martin F. Pera Martin B. Delatycki Alice Pébay

We assessed structural elements of the retina in individuals with Friedreich ataxia (FRDA) and in mouse models of FRDA, as well as functions of the retinal pigment epithelium (RPE) in FRDA using induced pluripotent stem cells (iPSCs). We analyzed the retina of the FRDA mouse models YG22R and YG8R containing a human FRATAXIN (FXN) transgene by histology. We complemented this work with post-morte...

2007
BRUCE C. BERNDT Paul T. Bateman

We consider a large class of arithmetical functions generated by Dirichlet series satisfying a functional equation with gamma factors. Our objective is to state some 12 results for the average order of these arithmetical functions. Our objective here is to state some B-theorems on the average order of a class of arithmetical functions. We indicate very briefly the class of arithmetical function...

Journal: :International Journal of Molecular Sciences 2023

Friedreich’s ataxia (FRDA) is a rare monogenic disease characterized by multisystem, slowly progressive degeneration. Because of the genetic defect in non-coding region FXN gene, FRDA cells exhibit severe deficit frataxin protein levels. Hence, pathophysiology plethora metabolic disruptions related to iron metabolism, mitochondrial homeostasis and oxidative stress. Importantly, an impairment an...

Journal: :FASEB journal : official publication of the Federation of American Societies for Experimental Biology 2008
Robert D Wells

Friedreich ataxia, the most common inherited ataxia, is caused by the transcriptional silencing of the FXN gene, which codes for the 210 amino acid frataxin, a mitochondrial protein involved in iron-sulfur cluster biosynthesis. The expansion of the GAA x TTC tract in intron 1 to as many as 1700 repeats elicits the transcriptional silencing by the formation of non-B DNA structures (triplexes or ...

Journal: :The FEBS journal 2008
Ana R Correia Chiara Pastore Salvatore Adinolfi Annalisa Pastore Cláudio M Gomes

Friedreich's ataxia results from a deficiency in the mitochondrial protein frataxin, which carries single point mutations in some patients. In the present study, we analysed the consequences of different disease-related mutations in vitro on the stability and dynamics of human frataxin. Two of the mutations, G130V and D122Y, were investigated for the first time. Analysis by CD spectroscopy demo...

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