Number of found documents: 49
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Establishing preclinical proof-of-concept of gene therapy for Huntington disease
Miniariková, J.; Juhás, Štefan; Caron, N.; Spronck, L.; Vallés, A.; De Haan, M.; Blits, B.; Ellederová, Zdeňka; van Deventer, S.; Petry, H.; Southwell, A.; Déglon, N.; Motlík, Jan; Konstantinová, P.; Evers, M.
2017 - English
Huntington disease (HD) is an autosomal dominant neurodegenerative disorder caused by a CAG trinucleotide repeat expansion in the HTT gene. The translated expanded polyglutamine repeat in the huntingtin protein is known to cause toxic gain-of-function, affecting numerous cellular processes. Our approach involves a new therapeutic modality by developing a single (one-time) treatment for HD based on a gene therapy lowering the expression of the toxic huntingtin using the RNA interference (RNAi) mechanism. Huntingtin lowering is achieved using gene transfer of a cassette encoding an engineered microRNA targeting human HTT, delivered via adeno-associated viral vector serotype 5 (AAV5-miHTT). Keywords: Huntington´s disease Available at various institutes of the ASCR
Establishing preclinical proof-of-concept of gene therapy for Huntington disease

Huntington disease (HD) is an autosomal dominant neurodegenerative disorder caused by a CAG trinucleotide repeat expansion in the HTT gene. The translated expanded polyglutamine repeat in the ...

Miniariková, J.; Juhás, Štefan; Caron, N.; Spronck, L.; Vallés, A.; De Haan, M.; Blits, B.; Ellederová, Zdeňka; van Deventer, S.; Petry, H.; Southwell, A.; Déglon, N.; Motlík, Jan; Konstantinová, P.; Evers, M.
Ústav živočišné fyziologie a genetiky, 2017

Oxidative stress in primary porcine fibroblasts expressing mutated huntingtin
Šmatlíková, Petra; Askeland, G.; Vaškovičová, Michaela; Klíma, Jiří; Motlík, Jan; Eide, L.; Ellederová, Zdeňka
2017 - English
Molecular events, such as protein aggregation, mitochondrial dysfunction, and transcriptional dysregulation have been linked to Huntington’s disease (HD) pathogenesis. Oxidative stress has been considered as one of the key players in disease progression. Though, it is still not clear whether oxidative stress causes HD, or if it is a consequence of other primary events. Keywords: huntingtin Available at various institutes of the ASCR
Oxidative stress in primary porcine fibroblasts expressing mutated huntingtin

Molecular events, such as protein aggregation, mitochondrial dysfunction, and transcriptional dysregulation have been linked to Huntington’s disease (HD) pathogenesis. Oxidative stress has been ...

Šmatlíková, Petra; Askeland, G.; Vaškovičová, Michaela; Klíma, Jiří; Motlík, Jan; Eide, L.; Ellederová, Zdeňka
Ústav živočišné fyziologie a genetiky, 2017

Results of the realisation of the experiments using large experimental animals – application of cells/ stem cells using different vectors, diagnostics
Juhás, Štefan; Juhásová, Jana
2017 - English
A design of methods to test application of cells/ stem cells using different vectors, solution of the application including diagnostics and connected agenda. Keywords: large animal models; stem cell therapy; spinal stem cells Available at various institutes of the ASCR
Results of the realisation of the experiments using large experimental animals – application of cells/ stem cells using different vectors, diagnostics

A design of methods to test application of cells/ stem cells using different vectors, solution of the application including diagnostics and connected agenda.

Juhás, Štefan; Juhásová, Jana
Ústav živočišné fyziologie a genetiky, 2017

Role of planar cell polarity pathway in ameloblastoma with focus on frizzled 6
Putnová, Barbora; Putnová, Iveta; Hrubá, Eva; Dosedělová, Hana; Štembírek, Jan; Daněk, Z.; Buchtová, Marcela
2017 - English
Ameloblastoma is the most common epithelial odontogenic tumour in the oral cavity. Its progression is usually slow and the surface is covered by an oral mucosa with physiologic appearance. These tumours do not cause any pain to the patient and therefore it is difficult to diagnose them on time and the first signs are often missed by clinician leading to late diagnosis. Keywords: ameloblastoma Available at various institutes of the ASCR
Role of planar cell polarity pathway in ameloblastoma with focus on frizzled 6

Ameloblastoma is the most common epithelial odontogenic tumour in the oral cavity. Its progression is usually slow and the surface is covered by an oral mucosa with physiologic appearance. These ...

Putnová, Barbora; Putnová, Iveta; Hrubá, Eva; Dosedělová, Hana; Štembírek, Jan; Daněk, Z.; Buchtová, Marcela
Ústav živočišné fyziologie a genetiky, 2017

Role of FGF signaling in zeugopod development
Buchtová, Marcela; Celá, Petra; Horáková, D.; Krejčí, P.
2017 - English
The fibroblast growth factor (FGF) signalling systém regulates many developmental processes including skeletogenesis, brain patterning, branching morphogenesis or limb development. as FGFs are key players in the variable processes of chondrogenesis, we experimentally manipulated this pathway to test its effect on zeugopode modeling. Keywords: FGF Available at various institutes of the ASCR
Role of FGF signaling in zeugopod development

The fibroblast growth factor (FGF) signalling systém regulates many developmental processes including skeletogenesis, brain patterning, branching morphogenesis or limb development. as FGFs are key ...

Buchtová, Marcela; Celá, Petra; Horáková, D.; Krejčí, P.
Ústav živočišné fyziologie a genetiky, 2017

Mechanism of complex tooth shape development in reptiles
Landová, Marie; Zahradníček, Oldřich; Dosedělová, Hana; Kavková, M.; Zikmund, T.; Buchtová, Marcela
2017 - English
Tooth shape formation in mammals is well known proces thanks to the broad studies on the mouse molars. The main role in regulation of this proces plays the enamel knot. Enamel knots are formed by cluster of cells, which serves as a source of numerous signalling molecules such as SHH or members of WNT, BMP and FGF families. Almost all our knowledge about teeth came from study on the mouse model. For better understanding of odontogenesis, it is however necessary to compare developmental processes to another species. One of the most heterogenic group of dentition type and shape are reptiles. How the shape of their teeth completed is still unknown. Aim of our study is therefore to uncover developmental processes involved in cusp formation in non-mammalian species with focus on reptiles. As model species for this study, we selected chameleons where multicuspis teeth develop in the caudal area of the jaw. Keywords: reptiles; tooth shape development Available at various institutes of the ASCR
Mechanism of complex tooth shape development in reptiles

Tooth shape formation in mammals is well known proces thanks to the broad studies on the mouse molars. The main role in regulation of this proces plays the enamel knot. Enamel knots are formed by ...

Landová, Marie; Zahradníček, Oldřich; Dosedělová, Hana; Kavková, M.; Zikmund, T.; Buchtová, Marcela
Ústav živočišné fyziologie a genetiky, 2017

Mitochondrial phenotype in minipig model transgenic for N-terminal part of human mutated huntingtin
Hansíková, H.; Rodinová, M.; Křížová, J.; Dosoudilová, Z.; Štufková, H.; Bohuslavová, Božena; Klíma, Jiří; Juhás, Štefan; Ellederová, Zdeňka; Motlík, Jan; Zeman, J.
2017 - English
Huntington’s disease (HD) is neurodegenerative disorder caused by an abnormal expansion of CAG repeat encoding a polyglutamine tract of huntingtin (htt). It has been postulated that mitochondria dysfunction may play significant role in the pathophysiology of the HD. But it is still not known yet in detail how mitochondria are able to cover energy needs of the cells during the progression of the HD. Keywords: minipig model; Huntington´s disease Available at various institutes of the ASCR
Mitochondrial phenotype in minipig model transgenic for N-terminal part of human mutated huntingtin

Huntington’s disease (HD) is neurodegenerative disorder caused by an abnormal expansion of CAG repeat encoding a polyglutamine tract of huntingtin (htt). It has been postulated that mitochondria ...

Hansíková, H.; Rodinová, M.; Křížová, J.; Dosoudilová, Z.; Štufková, H.; Bohuslavová, Božena; Klíma, Jiří; Juhás, Štefan; Ellederová, Zdeňka; Motlík, Jan; Zeman, J.
Ústav živočišné fyziologie a genetiky, 2017

Double strand DNA breaks response in Huntington´s disease
Šolc, Petr
2017 - English
There are strong evidences that DNA damage response (DDR) signalling significantly underline the molecular pathology of polyglutamine (polyQ) diseases, including Huntington´s disease (HD) [1-4]. Double strand DNA breaks (DSBs) are the most deleterious DNA lesions.\nIn this talk I will review how DDR on DSBs is affected in HD.\n Keywords: DNA damage response Available at various institutes of the ASCR
Double strand DNA breaks response in Huntington´s disease

There are strong evidences that DNA damage response (DDR) signalling significantly underline the molecular pathology of polyglutamine (polyQ) diseases, including Huntington´s disease (HD) [1-4]. ...

Šolc, Petr
Ústav živočišné fyziologie a genetiky, 2017

Double strand DNA breaks response in Huntington´s disease transgenic minipigs
Vaškovičová, Michaela; Šmatlíková, Petra; Herbert, A.; Motlík, Jan; Šolc, Petr
2017 - English
Huntington’s disease (HD) is progressive neurodegenerative disorder caused by presence of CAG expansion in the huntingtin gene, which gives rise to mutated form of huntingtin protein (mHtt). There is a strong evidence that DNA damage response is compromised by presence of mHtt in cells and increase of double strand DNA breaks (DSBs) is an early event in HD pathology. It was shown, that level of γH2AX is significantly higher in R6/2 mice compared to wild-type animals. Moreover, level of γH2AX is higher also in striatal neurons and fibroblasts of human HD patients. Furthermore, protein p53, key player in DNA damage response, is hyperactivated in cells expressing mHtt and inhibition of p53 or ATM ameliorates phenotypes of HD animal models. However, exact mechanism of mHtt action is not clear and therefore further investigation of mHtt effects on DSBs response is very important for the understanding of HD pathology. Keywords: transgenic minipigs Available at various institutes of the ASCR
Double strand DNA breaks response in Huntington´s disease transgenic minipigs

Huntington’s disease (HD) is progressive neurodegenerative disorder caused by presence of CAG expansion in the huntingtin gene, which gives rise to mutated form of huntingtin protein (mHtt). There is ...

Vaškovičová, Michaela; Šmatlíková, Petra; Herbert, A.; Motlík, Jan; Šolc, Petr
Ústav živočišné fyziologie a genetiky, 2017

AAV-mediated delivery in large animals
Blits, B.; De Haan, M.; Evers, M.; Spronck, E. A.; Motlík, Jan; Bohuslavová, Božena; Ellederová, Zdeňka; Lewis, O. T.; Johnson, D.; Woolley, M.; Gill, S.; van Deventer, S.; Konstantinová, P.; Petry, H.
2017 - English
Gene therapy is an attractive option for treatment of neurological diseases. Delivery of the therapeutic gene at the proper location is key for an effective treatment and remains challenging, especially in larger animals. For translation from smaller (rodents) to larger animals, dimensions are different, but also the immune system plays a more prominent role in larger animals. Direct intracranial parenchymal infusions usually result in local transduction of tissue, whereas intrathecal infusions result in a more widespread transduction in the brain. Depending on the indication, the desired expression pattern of the therapeutic gene is to be elucidated and is dictating the route of infusion. Keywords: large animals Available at various institutes of the ASCR
AAV-mediated delivery in large animals

Gene therapy is an attractive option for treatment of neurological diseases. Delivery of the therapeutic gene at the proper location is key for an effective treatment and remains challenging, ...

Blits, B.; De Haan, M.; Evers, M.; Spronck, E. A.; Motlík, Jan; Bohuslavová, Božena; Ellederová, Zdeňka; Lewis, O. T.; Johnson, D.; Woolley, M.; Gill, S.; van Deventer, S.; Konstantinová, P.; Petry, H.
Ústav živočišné fyziologie a genetiky, 2017

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