Number of the records: 1  

Acyl CoA Binding Domain Containing 3 (ACBD3) Protein in Huntington’s Disease 
Human Skin Fibroblasts

  1. 1.
    0452790 - ÚŽFG 2016 RIV CZ eng J - Journal Article
    Kratochvílová, H. - Rodinová, M. - Sládková, J. - Klempíř, J. - Lišková, Irena - Motlík, Jan - Zeman, J. - Hansíková, H. - Tesařová, M.
    Acyl CoA Binding Domain Containing 3 (ACBD3) Protein in Huntington’s Disease 
Human Skin Fibroblasts.
    Česká a Slovenská neurologie a neurochirurgie. Roč. 78, Suppl. 2 (2015), s. 34-38. ISSN 1210-7859. E-ISSN 1802-4041.
    [Conference on Animal Models for neurodegenerative Diseases /3./. Liblice, 08.11.2015-10.11.2015]
    R&D Projects: GA MŠMT ED2.1.00/03.0124
    Institutional support: RVO:67985904
    Keywords : Huntington’s disease * Acyl-CoA binding domain containing 3 protein * human skin fibroblasts
    Subject RIV: FH - Neurology
    Impact factor: 0.209, year: 2015

    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.
    Permanent Link: http://hdl.handle.net/11104/0253763

     
     
Number of the records: 1  

  This site uses cookies to make them easier to browse. Learn more about how we use cookies.