5-amino-4-imidazolecarboxamide riboside deficiency

同

AICA-ribosiduria

WordNet

1. pertaining to or containing any of a group of organic compounds of nitrogen derived from ammonia (同)aminic
2. the radical -NH2 (同)amino_group

PrepTutorEJDIC

1. 〈U〉〈C〉(…の)(量・額などの)不足,欠乏《+『of』(『in』)+『名』》 / 〈C〉不足分,不足量,不足額 / 〈C〉(精神・肉体などの)欠陥

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English Journal

• Diagnosing AICA-ribosiduria by capillary electrophoresis.

• Hornik P1, Vyskocilová P, Friedecký D, Adam T.
• Journal of chromatography. B, Analytical technologies in the biomedical and life sciences.J Chromatogr B Analyt Technol Biomed Life Sci.2006 Oct 20;843(1):15-9. Epub 2006 Jun 23.
• AICA-ribosiduria is a recently discovered inherited metabolic disease caused by a defect in final steps of purine de novo biosynthesis-5-amino-4-imidazolecarboxamide ribotide (AICAR)-transformylase/inosinemonophosphate (IMP)-cyclohydrolase (ATIC). A rapid and selective capillary electrophoretic meth
• PMID 16798121

• 5-amino-4-imidazolecarboxamide riboside potentiates both transport of reduced folates and antifolates by the human reduced folate carrier and their subsequent metabolism.

• McGuire JJ1, Haile WH, Yeh CC.
• Cancer research.Cancer Res.2006 Apr 1;66(7):3836-44.
• Transport is required before reduced folates and anticancer antifolates [e.g., methotrexate (MTX)] exert their physiologic functions or cytotoxic effects. The folate/antifolate transporter with the widest tissue distribution and greatest activity is the reduced folate carrier (RFC). There is little
• PMID 16585211

• AICA-ribosiduria: a novel, neurologically devastating inborn error of purine biosynthesis caused by mutation of ATIC.

• Marie S1, Heron B, Bitoun P, Timmerman T, Van Den Berghe G, Vincent MF.
• American journal of human genetics.Am J Hum Genet.2004 Jun;74(6):1276-81. Epub 2004 Apr 26.
• In a female infant with dysmorphic features, severe neurological defects, and congenital blindness, a positive urinary Bratton-Marshall test led to identification of a massive excretion of 5-amino-4-imidazolecarboxamide (AICA)-riboside, the dephosphorylated counterpart of AICAR (also termed "ZMP"),
• PMID 15114530

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★リンクテーブル★

リンク元	「AICA-ribosiduria」
関連記事	「deficiency」

「AICA-ribosiduria」

　　[★]

同

5-amino-4-imidazolecarboxamide riboside deficiency

「deficiency」

　　[★]

• n.

• 不足、欠乏、欠失、欠如、欠損、不十分。栄養不足、栄養素欠乏、欠乏症。(遺伝子)(染色体内の)遺伝子欠失
• 欠けているもの、不足している物。不足分。不完全なもの、欠点のあるもの

関

absence, agenesis, dearth, defect, defective, deficient, deficit, delete, deletion, deletional, depletion, deprivation, deprive, lack, miss, missing, morphological defect, paucity, scarce, scarcity, starve