Functional variants of the 5q31 chromosome region: connections between polygenic diseases and the carnitine system.

Reference: 73430 Abstract: The study design is the natural extension of our previous research works that had already been supported (www.humangenom.hu, www.eurosca.org). It is clear nowadays, that the functions of the carnitine are not restricted to the role of the oxidation of the long-chain fatty acids. The main direction of the planned research is the … Read more

Functional characterization of proteins MECP2 and ACSL4 “as part of the project” post-genomic strategies for the study and prevention of X-linked mental retardation

Reference: neri Abstract: n.a PROJECT DETAILS  beginning: 2006. end: 2007. Country of research: Italy Counry of funding source: Italy Funding organization: PRIN projects Ministry of Education, Universities and Research MIUR Financing: NATIONAL FUNDINGS – 51 510 € hyperlink

From Synaptopathies to System Dysfunction

Reference: Subproject to FZT 103 Abstract: This area of ??research focuses on genetic diseases that result in defects of synapse formation and function, which cause motor and cognitive deficits in Rett syndrome and as the associate autism.ᅠCause of Rett syndrome are encoded spontaneous mutations in X-linked MECP2 gene, the transcriptional regulator methyl-CpG binding protein 2 … Read more

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