http://chineseinput.net/에서 pinyin(병음)방식으로 중국어를 변환할 수 있습니다.
변환된 중국어를 복사하여 사용하시면 됩니다.
- 中文 을 입력하시려면 zhongwen을 입력하시고 space를누르시면됩니다.
- 北京 을 입력하시려면 beijing을 입력하시고 space를 누르시면 됩니다.
RISS 인기검색어
- 검색키워드
- 저자 : Laipis, Philip (검색결과 1 건)
- 무료
- 기관 내 무료
- 유료
-
A Murine Model for Human Sepiapterin-Reductase Deficiency
Yang, Seungkyoung,Lee, Young Jae,Kim, Jin-Man,Park, Sean,Peris, Joanna,Laipis, Philip,Park, Young Shik,Chung, Jae Hoon,Oh, S. Paul University of Chicago Press [etc.] 2006 American journal of human genetics Vol.78 No.4
<P>Tetrahydrobiopterin (BH<SUB>4</SUB>) is an essential cofactor for several enzymes, including all three forms of nitric oxide synthases, the three aromatic hydroxylases, and glyceryl-ether mono-oxygenase. A proper level of BH<SUB>4</SUB> is, therefore, necessary for the metabolism of phenylalanine and the production of nitric oxide, catecholamines, and serotonin. BH<SUB>4</SUB> deficiency has been shown to be closely associated with diverse neurological psychiatric disorders. Sepiapterin reductase (SPR) is an enzyme that catalyzes the final step of BH<SUB>4</SUB> biosynthesis. Whereas the number of cases of neuropsychological disorders resulting from deficiencies of other catalytic enzymes involved in BH<SUB>4</SUB> biosynthesis and metabolism has been increasing, only a handful of cases of SPR deficiency have been reported, and the role of SPR in BH<SUB>4</SUB> biosynthesis in vivo has been poorly understood. Here, we report that mice deficient in the <I>Spr</I> gene (<I>Spr</I><SUP>−/−</SUP>) display disturbed pterin profiles and greatly diminished levels of dopamine, norepinephrine, and serotonin, indicating that SPR is essential for homeostasis of BH<SUB>4</SUB> and for the normal functions of BH<SUB>4</SUB>-dependent enzymes. The <I>Spr</I><SUP>−/−</SUP> mice exhibit phenylketonuria, dwarfism, and impaired body movement. Oral supplementation of BH<SUB>4</SUB> and neurotransmitter precursors completely rescued dwarfism and phenylalanine metabolism. The biochemical and behavioral characteristics of <I>Spr</I><SUP>−/−</SUP> mice share striking similarities with the symptoms observed in SPR-deficient patients. This <I>Spr</I> mutant strain of mice will be an invaluable resource to elucidate many important issues regarding SPR and BH<SUB>4</SUB> deficiencies.</P>
연관 검색어 추천
이 검색어로 많이 본 자료
활용도 높은 자료
