glutamate dehydrogenase gene mutation

glutamate dehydrogenase遺伝子異常

WordNet

1. (genetics) any event that changes genetic structure; any alteration in the inherited nucleic acid sequence of the genotype of an organism (同)genetic mutation, chromosomal_mutation
2. a change or alteration in form or qualities
3. (genetics) a segment of DNA that is involved in producing a polypeptide chain; it can include regions preceding and following the coding DNA as well as introns between the exons; it is considered a unit of heredity; "genes were formerly called factors" (同)cistron, factor
4. a salt or ester of glutamic acid
5. informal term for information; "give me the gen on your new line of computers"

PrepTutorEJDIC

1. 変化,俸転 / (生物の)突然変異;その変種
2. 遺伝子

UpToDate Contents

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• 1. 幼児の持続性高インスリン血症性低血糖症の病因、臨床的特徴、および診断 pathogenesis clinical features and diagnosis of persistent hyperinsulinemic hypoglycemia of infancy
• 2. 筋萎縮性側索硬化症の疫学および病因 epidemiology and pathogenesis of amyotrophic lateral sclerosis
• 3. 肝細胞障害を検出するための肝臓生化学検査 liver biochemical tests that detect injury to hepatocytes
• 4. 乳児の持続性高インスリン血症性低血糖症の治療および合併症 treatment and complications of persistent hyperinsulinemic hypoglycemia of infancy
• 5. Clostridium difficile infection in children: Clinical features and diagnosis

English Journal

• Improvement of the ammonia assimilation for enhancing L-arginine production of Corynebacterium crenatum.

• Guo J1, Man Z1, Rao Z2,3, Xu M1, Yang T1, Zhang X1, Xu Z4.
• Journal of industrial microbiology & biotechnology.J Ind Microbiol Biotechnol.2017 Mar;44(3):443-451. doi: 10.1007/s10295-017-1900-9. Epub 2017 Jan 25.
• PMID 28120129

• Amino Acid Catabolism in Staphylococcus aureus and the Function of Carbon Catabolite Repression.

• Halsey CR1, Lei S2, Wax JK1, Lehman MK1, Nuxoll AS3, Steinke L4, Sadykov M1, Powers R5, Fey PD6.
• mBio.MBio.2017 Feb 14;8(1). pii: e01434-16. doi: 10.1128/mBio.01434-16.
• PMID 28196956

• A severe case of hyperinsulinism due to hemizygous activating mutation of glutamate dehydrogenase.

• Barrosse-Antle M1, Su C2, Chen P3, Boodhansingh KE3, Smith TJ4, Stanley CA1,3, De León DD1,3, Li C1,3.
• Pediatric diabetes.Pediatr Diabetes.2017 Feb 6. doi: 10.1111/pedi.12507. [Epub ahead of print]
• PMID 28165182

Japanese Journal

• Mutational analysis of <i>ABCC8</i>, <i>KCNJ11</i>, <i>GLUD1</i>, <i>HNF4A</i> and <i>GCK</i> genes in 30 Chinese patients with congenital hyperinsulinism

• Endocrine Journal 61(9), 901-910, 2014
• NAID 130004690921

• Unregulated elevation of glutamate dehydrogenase activity induces glutamate-stimulated insulin secretion : identification and characterization of a GLUT1 gene mutation and insulin secretion studies with MIN6 cells overexpressing the mutant glutamate dehydrogenase

• Diabetes 51, 712-717, 2002
• NAID 30026273412

• A Japanese Case of Congenital Hyperinsulinism with Hyperammonemia Due to a Mutation in Glutamate Dehydrogenase (GLUD1) Gene

• Internal medicine 40(1), 32-37, 2001-01
• NAID 10006998104

Related Links

• GLUD1 - Genetics Home Reference

Consumer-friendly information about human genetics from the U.S. National Library of Medicine. ... From NCBI Gene: This gene encodes glutamate dehydrogenase, which is a mitochondrial matrix enzyme that catalyzes ...

• GLUD1 glutamate dehydrogenase 1 [ (human)]

This gene encodes glutamate dehydrogenase, which is a mitochondrial matrix enzyme that catalyzes the oxidative deamination of glutamate to alpha-ketoglutarate and ammonia. This enzyme has an important role in ...

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★リンクテーブル★

リンク元	「glutamate dehydrogenase遺伝子異常」
関連記事	「glutamate」「glutamate dehydrogenase」「dehydrogenase」「dehydrogenases」

「glutamate dehydrogenase遺伝子異常」

　　[★]

英

glutamate dehydrogenase gene mutation

関

グルタミン酸脱水素酵素

「glutamate」

　　[★]

グルタミン酸、グルタメート、グルタメイト、(化合物)グルタミン酸塩

　

「glutamate dehydrogenase」

　　[★] グルタミン酸脱水素酵素、グルタミン酸デヒドロゲナーゼ、GDH、GLDH

「dehydrogenase」

　　[★] 脱水素酵素 デヒドロゲナーゼ

「dehydrogenases」

　　[★] 脱水素酵素 デヒドロゲナーゼ