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ABSTRACT: Genetic studies of Maple syrup urine disease

PROVIDER: PRJNA644296 | ENA |

REPOSITORIES: ENA

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			Action	DRS
	SRR12150121_1.fastq.gz	Fastqsanger.gz
	SRR12150121_2.fastq.gz	Fastqsanger.gz

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Liver-protecting Effect of Maple Syrup

Project description:Rats fed a 20%-maple syrup diet (maple syrup group) for 11 days showed significantly lower values of the hepatic function markers than those fed a 20%-sugar mix syrup diet (control) likewise. One reasons was suggested by DNA microarray analysis which revealed that the expression of genes for enzymes of ammonia production were down-regulated in the liver of maple syrup group. Rats were quarantined and conditioned by administration of the authentic AIN93G diet for 4 days. Rats had free access to the diet and drinking water during this preliminary feeding. For feeding tests, they were dichotomized (n = 7 and 8) for maple syrup and sugar mix syrup group, respectively, and then fed for 11 days on either the AIN93G diet containing 20% maple syrup or on the 20% sugar mix syrup with a similar sugar composition; the amount of maple syrup or the sugar mix syrup was arranged. Rats in both diet groups were fasted for 16 hours, prior to being anesthetically sacrificed for dissection.

2011-08-31 | E-GEOD-30532 | biostudies-arrayexpress

Liver-protecting Effect of Maple Syrup

2011-09-01 | GSE30532 | GEO

A maple syrup extract alleviates liver injury in type 2 diabetic model mice

Project description:A recent study showed that 54% of type 2 diabetes (T2D) patients have nonalcoholic fatty liver disease, which is a risk factor for aggravation diabetic symptoms. Previous studies suggested components in maple syrup alleviated liver injury and found polyphenols as food components to improve the symptoms and complications of diabetes. Therefore, we hypothesized that a polyphenol fraction in maple syrup improves the symptoms and complications of diabetes. To address the hypothesis, we investigated the effects of a polyphenol-rich maple syrup extract (MSE) on a T2D model mice. KK-Ay mice were fed a normal or 0.1% MSE-supplemented diet for 43 days. The results showed that the levels of serum alanine aminotransferase and aspartate aminotransferase were significantly reduced in mice that ingested MSE. Hepatic genes related to lipogenesis and lipolysis were down- and upregulated, respectively, in mice that ingested MSE. These results suggest that MSE intake alleviates liver injury and suppresses lipid accumulation in the livers of T2D mice.

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Mutations in BCKD-kinase lead to a potentially treatable form of autism with epilepsy

Project description:Autism is present in 1% of the population, yet treatments are extremely limited. We identified homozygous inactivating mutations in the BCKDK gene in families presenting with autism and epilepsy. The encoded branched chain ketoacid dehydrogenase kinase protein is responsible for phosphorylation-mediated inactivation of the E1-alpha subunit of branched chain ketoacid dehydrogenase, itself mutated in Maple Syrup Urine Disease (MSUD). Patients with homozygous BCKDK mutations display reductions in BCKDK mRNA and protein, E1-alpha phosphorylation and serum branched chain amino acids (BCAAs). Bckdk knockout mice show abnormal brain amino acids profiles and neurobehavioral defects, which are largely corrected by dietary BCAA supplementation. Thus autism presenting with epilepsy due to BCKDK mutations represent a new and potentially treatable disease.

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Effect of maple syrup extract high on the liver of mice fed a high-fat diet [III]

Project description:The effects of the administration of maple syrup extract (MSXH) on hepatic gene expression were investigated in mice fed high-fat diet.

2016-09-12 | GSE80628 | GEO

Effect of maple syrup extract high on the liver of mice fed a high-fat diet [II]

Project description:The effects of the administration of maple syrup extract (MSXH) on hepatic gene expression were investigated in mice fed high-fat diet.

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Effect of maple syrup extract high on the liver of mice fed a high-fat diet [I]

Project description:The effects of the administration of maple syrup extract (MSXH) on hepatic gene expression were investigated in mice fed high-fat diet.

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Effect of maple syrup extract on the liver of mice fed a high-fat diet

Project description:The effects of the administration of maple syrup extract (MSX) on hepatic gene expression were investigated in mice fed high-fat diet.

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Project description:Identification of gene mutations in six Chinese patients with maple syrup urine disease

| PRJNA918507 | ENA

directDIA analysis for mouse liver

Project description:SWATH data for mouse, sample 001-004 is control, sample 005-008 is model (LPS-induced peritonitis), and sample 009-012 is maple syrup extract-treated (LPS induction plus maple syrup extract administration). For more detailed information, please contact Dr.Chang Liu (hichang813@uri.edu)

2023-06-13 | MSV000092153 | MassIVE

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