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Statements

Subject Item
n2:RIV%2F67985904%3A_____%2F15%3A00441650%21RIV15-TA0-67985904
rdf:type
n10:Vysledek skos:Concept
dcterms:description
Huntington's disease (HD) is the most common inherited neurodegenerative disorder among polyglutamine (polyQ) diseases caused by cytosine-adenine-guanine repeat expansion in exon 1 of the huntingtin gene whose translation results in polyQ stretch in the N-terminus of the huntingtin protein (HD protein). This mutation significantly affects huntingtin conformation, proteolysis, PTMs, as well as its ability to bind interacting proteins. As a consequence, a variety of cellular mechanisms such as transcription, mitochondrial energy metabolism, axonal transport, neuronal vulnerability to oxidative stress, neurotransmission, and immune response are altered and involved in the pathogenesis of HD. Promising candidate molecular biomarkers of HD have emerged from proteomic studies. Recent analyses focused on HD protein itself, its PTM, and interacting proteins, which are of great importance for disease course. Furthermore, brain, body fluids, and immune system are intensively studied in order to search for additional proteins with a view to their use as a biomarker(s) or set of biomarkers in clinical trials in HD translational research. Huntington's disease (HD) is the most common inherited neurodegenerative disorder among polyglutamine (polyQ) diseases caused by cytosine-adenine-guanine repeat expansion in exon 1 of the huntingtin gene whose translation results in polyQ stretch in the N-terminus of the huntingtin protein (HD protein). This mutation significantly affects huntingtin conformation, proteolysis, PTMs, as well as its ability to bind interacting proteins. As a consequence, a variety of cellular mechanisms such as transcription, mitochondrial energy metabolism, axonal transport, neuronal vulnerability to oxidative stress, neurotransmission, and immune response are altered and involved in the pathogenesis of HD. Promising candidate molecular biomarkers of HD have emerged from proteomic studies. Recent analyses focused on HD protein itself, its PTM, and interacting proteins, which are of great importance for disease course. Furthermore, brain, body fluids, and immune system are intensively studied in order to search for additional proteins with a view to their use as a biomarker(s) or set of biomarkers in clinical trials in HD translational research.
dcterms:title
Challenges of Huntington's disease and quest for therapeutic biomarkers Challenges of Huntington's disease and quest for therapeutic biomarkers
skos:prefLabel
Challenges of Huntington's disease and quest for therapeutic biomarkers Challenges of Huntington's disease and quest for therapeutic biomarkers
skos:notation
RIV/67985904:_____/15:00441650!RIV15-TA0-67985904
n3:aktivita
n11:I n11:P
n3:aktivity
I, P(ED2.1.00/03.0124), P(TA01011466)
n3:cisloPeriodika
1-2
n3:dodaniDat
n15:2015
n3:domaciTvurceVysledku
n4:4640225 n4:1280953 n4:5096812 n4:1147633 n4:5434505 n4:4201116
n3:druhVysledku
n14:J
n3:duvernostUdaju
n17:S
n3:entitaPredkladatele
n12:predkladatel
n3:idSjednocenehoVysledku
56
n3:idVysledku
RIV/67985904:_____/15:00441650
n3:jazykVysledku
n6:eng
n3:klicovaSlova
HD biomarkers; Huntington´s disease; Huntingtin neurotoxicity; Huntingtin pathogenesis
n3:klicoveSlovo
n9:Huntington%C2%B4s%20disease n9:HD%20biomarkers n9:Huntingtin%20neurotoxicity n9:Huntingtin%20pathogenesis
n3:kodStatuVydavatele
DE - Spolková republika Německo
n3:kontrolniKodProRIV
[6CC34E4B7B90]
n3:nazevZdroje
Proteomics Clinical Applications
n3:obor
n16:FH
n3:pocetDomacichTvurcuVysledku
6
n3:pocetTvurcuVysledku
7
n3:projekt
n8:ED2.1.00%2F03.0124 n8:TA01011466
n3:rokUplatneniVysledku
n15:2015
n3:svazekPeriodika
9
n3:tvurceVysledku
Gadher, S. J. Žižková, Martina Valeková, Ivona Kovářová, Hana Kotrčová, Eva Jarkovská, Karla Motlík, Jan
n3:wos
000349436400015
s:issn
1862-8346
s:numberOfPages
12
n18:doi
10.1002/prca.201400073