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Acyl CoA Binding Domain Containing 3 (ACBD3) Protein in Huntington’s Disease Human Skin Fibroblasts
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SYSNO ASEP 0452790 Document Type J - Journal Article R&D Document Type Journal Article Subsidiary J Ostatní články Title Acyl CoA Binding Domain Containing 3 (ACBD3) Protein in Huntington’s Disease Human Skin Fibroblasts Author(s) Kratochvílová, H. (CZ)
Rodinová, M. (CZ)
Sládková, J. (CZ)
Klempíř, J. (CZ)
Lišková, Irena (UZFG-Y)
Motlík, Jan (UZFG-Y) RID, ORCID
Zeman, J. (CZ)
Hansíková, H. (CZ)
Tesařová, M. (CZ)Source Title Česká a Slovenská neurologie a neurochirurgie. - : Ambit Media - ISSN 1210-7859
Roč. 78, Suppl. 2 (2015), s. 34-38Number of pages 5 s. Publication form Print - P Action Conference on Animal Models for neurodegenerative Diseases /3./ Event date 08.11.2015-10.11.2015 VEvent location Liblice Country CZ - Czech Republic Event type WRD Language eng - English Country CZ - Czech Republic Keywords Huntington’s disease ; Acyl-CoA binding domain containing 3 protein ; human skin fibroblasts Subject RIV FH - Neurology R&D Projects ED2.1.00/03.0124 GA MŠMT - Ministry of Education, Youth and Sports (MEYS) Institutional support UZFG-Y - RVO:67985904 DOI 10.14735/amcsnn20152S34 Annotation Huntington’s disease (HD) is an autosomal dominant neurodegenerative disease caused by the expansion of polyglutamine repeats (> 35 repeats) in the nuclear gene for the huntingtin protein. HD is characterized by slow progressive changes in motor behaviour and personality that are sometimes accompanied by weight loss. To date, the exact mechanisms of HD pathophysiology have not been defined. Impaired motor behaviour reflecting massive and selective destruction of the striatum has been observed in patients with HD. Sbodio et al. [1] reported in 2013 that Acyl CoA binding domain containing 3 (ACBD3) protein levels were elevated in the striatum of HD patients and connected with higher neurotoxicity in HD. The ACBD3 protein plays essential roles in many different cellular functions via interactions with a multitude of partners. ACBD3 is involved in neuronal stem cell self renewal, neurodegeneration, lipid homeostasis, stress resistance, intracellular vesicle trafficking, organelle maintenance, viral replication and the apoptotic response. Herein, we found that ACBD3 in not present in the mitochondria in skin fibroblasts. Moreover, our findings also revealed that the total cellular level of ACBD3 is not consistent among the fibroblasts of HD patients. Workplace Institute of Animal Physiology and Genetics Contact Jana Zásmětová, knihovna@iapg.cas.cz, Tel.: 315 639 554 Year of Publishing 2016
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