Results 21 to 30 of about 4,103 (182)
Light‐Controlled Modulation of 15‐Lipoxygenase‐1 Regulates Intestinal Inflammatory Signaling
Angewandte Chemie, EarlyView.The developed target‐guided strategy enables the rational design of diazo‐based photoswitchable inhibitors of 15‐lipoxygenase‐1. Distinct molecular architectures program opposite light‐dependent activity, allowing on‐demand control of enzyme inhibition.
Anastasia Louka +10 more
wiley +2 more sources
Neurological Research and Practice, 2019 Introduction Currently, no treatment that delays with the progression of Friedreich ataxia is available. In the majority of patients Friedreich ataxia is caused by homozygous pathological expansion of GAA repeats in the first intron of the FXN gene ...
Kathrin Reetz +22 more
doaj +1 more source
Friedreich ataxia in a family from Mali, West Africa/Friedreich ataxia in a Malian family
Clinical Case Reports, 2021 Friedreich ataxia is the most common inherited ataxia in the world, but yet to be reported in black African. We report the first genetically confirmed case in a West African family.
Cheick A. K. Cissé +17 more
doaj +1 more source
Diagnosing Friedreich's ataxia [PDF]
Archives of Disease in Childhood, 1998 Clinical diagnosis is still of the utmost importance and following our review of cases diagnosed using the strict criteria, 100% were homozygous for the expansion. However, now that there is a relatively simple direct genetic test, the diagnosis can be considered in more unusual cases.
openaire +2 more sources
FXN Promoter Silencing in the Humanized Mouse Model of Friedreich Ataxia.
PLoS ONE, 2015 BackgroundFriedreich 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
Yogesh K Chutake +7 more
doaj +1 more source
Large Interruptions of GAA Repeat Expansion Mutations in Friedreich Ataxia Are Very Rare
Frontiers in Cellular Neuroscience, 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 mitochondrial
Sahar Al-Mahdawi +9 more
doaj +1 more source
A CASE OF FRIEDREICH'S ATAXIA [PDF]
Archives of Neurology And Psychiatry, 1921 Friedreich's ataxia is still a rarity, and the opportunity to examine the spinal cord in an early stage of the disease does not often present itself. The following case is of interest because it occurred in a boy, aged 11 years, who died of an acute intercurrent disease. He had a younger brother who also had this familial affection.
openaire +2 more sources
Vitamin E Level In Friedreich’s Ataxic Phenotype Patients In Four Major Hospitals In Baghdad
مجله كليه طب الكندي, 2019 Background: Friedreich ataxia (FRDA) is the most common form of inherited ataxia, comprising one-half of all hereditary ataxias with a carrier rate between 1 in 60 to 1 in 90 and with a disease prevalence of 1 per 29,000.
Ahmed Hasan Ahmed
doaj +1 more source
Expression of human frataxin is regulated by transcription factors SRF and TFAP2.
PLoS ONE, 2010 BackgroundFriedreich ataxia is an autosomal recessive neurodegenerative disease caused by reduced expression levels of the frataxin gene (FXN) due to expansion of triplet nucleotide GAA repeats in the first intron of FXN.
Kuanyu Li +7 more
doaj +1 more source
More Than Ataxia: Hyperkinetic Movement Disorders in Childhood Autosomal Recessive Ataxia Syndromes
Tremor and Other Hyperkinetic Movements, 2016 Background: The autosomal recessive ataxias are a heterogeneous group of disorders that are characterized by complex neurological features in addition to progressive ataxia.
Toni S. Pearson
doaj +1 more source