Citrullinemia type I is an autosomal recessive disorder that is caused by a deficiency of the urea cycle enzyme argininosuccinate synthetase (ASS1). Deficiency of ASS1 shows various clinical manifestations encompassing severely affected patients with fatal neonatal hyperammonemia as well as asymptomatic individuals with only a biochemical phenotype. This is a comprehensive report of all 87 mutations found to date in the ASS1 gene on chromosome 9q34.1. A large proportion of the mutations (n=27) are described here for the first time. Mutations are distributed throughout exons 3 to 15, most of them being identified in exons 5, 12, 13, and 14. The mutation G390R in exon 15 is the single most common mutation in patients with the classical phenotype. Certain mutations clearly link to specific clinical courses but the clinical phenotype cannot be anticipated in all patients. This update presents a survey of the correlation between mutations in the ASS1 gene and the respective clinical courses as ...

TY - JOUR. T1 - The experimental study of the canine auxiliary partial liver transplantation for the liver failure. AU - Huang, J. F.. AU - He, Xiaoshun. AU - Xuan, W. H.. PY - 1994/1/1. Y1 - 1994/1/1. N2 - A model of hepatic failure was established by injection of galactosamine in CCL4-induced liver cirrhosis. Auxiliary partial liver transplantation (APLT) was carried out to treat those dogs. The survival rate, biochemical change patterns, and histologic changes were investigated in both APLT group and control group. The survival rate in APLT and control group was 59.1% and 7.1% respectively, (P , 0.01). Fair supporting graft function was demonstrated by uptake and excretion of 99mTC-HIDA and 99mTC-DIASA at cholescintigraphy, ammonia aetoxification, synthesis of clotting factors and glucohomeostasis. The results indicate that auxiliary transplantation of a partial liver proviae metabolic support and improve survival in animals with hepatic failure. The character of the model, the advantages and ...

Lee, Hencher H.C., Esther S.C. Wong, Albert Y.W. Chan, and Martin M.F. Choi. Development of a galactose biosensor with galactose oxidase-immobilized epidermis of Solanum lycopersicum: Potential point-of-care testing for citrin deficiency in high-prevalence areas. Clinica Chimica Acta 412.4-3 (2011): 391-392. ...

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Swiss drugmakers Roche and Novartis have provided financial backing French gene therapy start-up Vivet Therapeutics, with the latter raising EUR37.5 million (US$41 million) in an initial financing round.. The funds will be used by Vivet to advance a diversified pipeline of gene therapy programs targeting rare, inherited metabolic diseases, including Wilson Disease, progressive familial intrahepatic cholestasis type 2 (PFIC2), progressive familial intrahepatic cholestasis type 3 (PFIC3) and citrullinemia type I.. Vivet, created last year in Paris with a wholly owned subsidiary in Spain, is focused on developing novel gene therapies for rare, inherited metabolic diseases.. Its lead program VTX801, which is expected to enter clinical testing by the end of 2018, targets a condition called Wilson Disease.. This rare genetic disorder is caused by a defective gene in liver cells encoding the ATP7B protein, which reduces the livers ability to regulate copper levels in the liver and other tissues ...

3.Title: Designing multiplex PCR tests for simultaneous screening of bovine leukocyte adhesion deficiency, bovine citrullinemia and factor XI deficiency genetic diseases in cattle. Authors: Anshuman Kumar, Ravi Kumar D, Vineeth MR, Govind Mohan, S Jayakumar, Saket K Niranjan and ID Gupta. Source: Ruminant Science (2017)-6(2):215-220. ...

Autism is a severe developmental disorder, whose pathogenetic underpinnings are still largely unknown. Temporocortical gray matter from six matched patient-control pairs was used to perform post-mortem biochemical and genetic studies of the mitochondrial aspartate/glutamate carrier (AGC), which participates in the aspartate/malate reduced nicotinamide adenine dinucleotide shuttle and is physiologically activated by calcium (Ca2+). AGC transport rates were significantly higher in tissue homogenates from all six patients, including those with no history of seizures and with normal electroencephalograms prior to death. This increase was consistently blunted by the Ca2+ chelator ethylene glycol tetraacetic acid; neocortical Ca2+ levels were significantly higher in all six patients; no difference in AGC transport rates was found in isolated mitochondria from patients and controls following removal of the Ca2+-containing postmitochondrial supernatant. Expression of AGC1, the predominant AGC isoform in ...

Principal Investigator：DOHI Kiyohiko, Project Period (FY)：1992 - 1994, Research Category：Grant-in-Aid for General Scientific Research (B), Research Field：Agro-economics

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It affects males and females equally. The most common form, Adult Onset Pernicious Anemia, affects people after the age of 35 years. Studies suggest that about 1% of the elderly population is affected. Congenital Pernicious Anemia is very rare and has an onset of age between 4 and 28 months. Juvenile Pernicious Anemia has symptoms similar to the adult-onset type, seems to occur between the ages of 4 and 20 years. North America and in Europe among people of Scandinavian, English, or Irish descent has the higher prevalence. It is extremely rare among Asians. Approximately 1.9% of cases may go undiagnosed. Pernicious anemia shows a 10-fold increase in patients with multiple myeloma and a 250-fold increase in adults with immunoglobulin deficiency. ...

Complete information for ASS1P14 gene (Pseudogene), Argininosuccinate Synthetase 1 Pseudogene 14, including: function, proteins, disorders, pathways, orthologs, and expression. GeneCards - The Human Gene Compendium

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Argininosuccinate synthetase (ASS), an integral enzyme to synthesize arginine is usually down regulated in many tumors including hepatocellular carcinoma (HCC). only occurs in SNU398 and SNU387, and not in HepG2 and Huh-1 (ASS(+)) cells, purchase EPZ-5676 and it is partly because of reduced anti-apoptotic protein X-linked inhibitor of apoptosis proteins (XIAP), myeloid leukemia cell differentiation proteins (Mcl-1) and B-cell lymphoma-2 (Bcl-2). Significantly, insufficient ASS also affects important enzymes in pyrimidine synthesis (carbamoyl-phosphate synthetase2, aspartate transcarbamylase and dihydrooratase (CAD) and thymidylate synthase (TS)) and malate dehydrogenase-1 (MDH-1) in TCA routine. ADI-PEG20 treatment reduced these enzymes and produced them more purchase EPZ-5676 susceptible to 5-FU. Transfection of ASS restored these enzymes and abolished the awareness to mixture and ADI-PEG20 treatment. General, our data claim that ASS affects multiple enzymes involved with 5-FU sensitivity. ...

1KH2: Crystal structure of argininosuccinate synthetase from Thermus thermophilus HB8. Structural basis for the catalytic action.

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まずは,優れたと言う私がしたいと私がしたいブログ！私は簡単な質問を持っていた心,私はあなたがいないをすればそうでない場合は、聞きしたいのですが、その。 あなたの心に頭をあなた自身とクリアを中央にどのように 見つけるために知っている前書き込み私がいた。 私が持っているいた苦労,私の考え得ることに私のクリア思考の心を出。 失われた無駄な 私は本当にない,書き込みそれはでの喜びを取る楽しむ通常、ちょうど最初の10〜15分のように思えるちょうど開始する方法を把握しよう。どれ提案またはヒント？ 感謝を ...

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