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Content archived on 2024-06-18

SBMA as a model of polyglutamine diseases: generation of a suitable cell system to study the post-transcriptional modifications of mutant androgen receptor and to discover potential therapeutic drugs

Objective

Accumulation of toxic aggregation-prone protein into inclusions and aggregates is the hallmark of most neurodegenerative diseases, a broad class of disorders including Alzheimer’s disease, Parkinson’s disease, amyotrophic lateral sclerosis and polyglutamine diseases. In this proposal, using SBMA as a model of neurodegenerative polyglutamine-related disorder, we intend to move a step forward expanding knowledge of the neurodegeneration. In particular, we will provide a suitable model system such as differentiated iPSCs from SBMA patients to study molecular mechanism and to find out potential therapeutic drugs for neurodegenerative diseases. To define the disease-phenotype of differentiated iPS cells we will take advantage of specific features of SBMA disorders: the ligand-dependent toxicity of expanded AR. The ligand binding induces many modifications of AR protein such as phosphorylation. Since phosphorylation of mutant AR is an important determinant of SBMA pathogenesis, we will also characterize the impact of cyclic adenosine monophosphatate (cAMP)-dependent protein kinase A (PKA) signaling on the mutant AR toxicity. Then, we will use this information to identify agents that promote such modifications to find out potential therapy. Therefore, in order to develop treatment for SBMA, we will test the effect of neuropeptides that stimulates the generation of cAMP and activation of PKA, to target SBMA spinal cord.

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Call for proposal

FP7-PEOPLE-2011-IOF
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Coordinator

FONDAZIONE ISTITUTO ITALIANO DI TECNOLOGIA
EU contribution
€ 178 760,70
Address
VIA MOREGO 30
16163 Genova
Italy

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Region
Nord-Ovest Liguria Genova
Activity type
Research Organisations
Links
Total cost
No data