Ontology highlight
ABSTRACT:
PROVIDER: PRJNA1047308 | ENA |
REPOSITORIES: ENA
Dataset's files
| Action | DRS | |||
|---|---|---|---|---|
| SRR27009900_1.fastq.gz | Fastqsanger.gz | |||
| SRR27009900_2.fastq.gz | Fastqsanger.gz | |||
| SRR27009901_1.fastq.gz | Fastqsanger.gz | |||
| SRR27009901_2.fastq.gz | Fastqsanger.gz | |||
| SRR27009902_1.fastq.gz | Fastqsanger.gz |
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Project description:To exploring the difference of microRNA expression between IA and MMA, we have employed microRNA array expression profiling as a discovery platform to identify genes between the IA and MMA. Futher functional analyses were performed based on the data.
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Project description:Methylmalonic acidemia (MMA), an organic acidemia characterized by metabolic instability and multiorgan complications, is most frequently caused by mutations in methylmalonyl-CoA mutase (MUT). To define the metabolic adaptations in MMA, in the chronic and acute settings, we studied a mouse model generated by transgenic expression of Mut in the muscle. Mut-/-;TgINS-MCK-Mut mice accurately replicate the hepato-renal mitochondriopathy and growth failure seen in severely affected patients, and were used to characterize the response to fasting. The hepatic transcriptome in MMA mice was characterized by the chronic activation of stress-related pathways and responded abberrantly to fasting when compared to controls.
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