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Human alkyldihydroxyacetonephosphate synthase deficiency: a new peroxisomal disorder.

作者信息

Wanders R J, Dekker C, Hovarth V A, Schutgens R B, Tager J M, Van Laer P, Lecoutere D

机构信息

Department of Pediatric Clinical Biochemistry, University Hospital Amsterdam, The Netherlands.

出版信息

J Inherit Metab Dis. 1994;17(3):315-8. doi: 10.1007/BF00711817.

DOI:10.1007/BF00711817
PMID:7807941
Abstract
摘要

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The structure and biosynthesis of glycosyl phosphatidylinositol protein anchors.糖基磷脂酰肌醇蛋白锚的结构与生物合成
Annu Rev Biochem. 1993;62:121-38. doi: 10.1146/annurev.bi.62.070193.001005.
2
Postnatal diagnosis of peroxisomal disorders: a biochemical approach.过氧化物酶体疾病的产后诊断：一种生化方法。
Biochimie. 1993;75(3-4):269-79. doi: 10.1016/0300-9084(93)90087-9.
3
Heterogeneity of Chondrodysplasia punctata.点状软骨发育不良的异质性。
合成缩醛磷脂前体PPI-1011的首次人体安全性、耐受性和药代动力学
Clin Transl Sci. 2025 Mar;18(3):e70195. doi: 10.1111/cts.70195.
4
Asymmetric Distribution of Plasmalogens and Their Roles-A Mini Review.缩醛磷脂的不对称分布及其作用——一篇综述短文
Membranes (Basel). 2023 Aug 29;13(9):764. doi: 10.3390/membranes13090764.
5
Overlapping and Distinct Features of Cardiac Pathology in Inherited Human and Murine Ether Lipid Deficiency.遗传性人类和鼠类醚脂缺乏症的心脏病理学的重叠和独特特征。
Int J Mol Sci. 2023 Jan 18;24(3):1884. doi: 10.3390/ijms24031884.
6
Antenatal ultrasonographic diagnosis of rhizomelic chondrodysplasia punctata.产前超声诊断点状软骨发育不良。
J Ultrasound. 2023 Jun;26(2):539-542. doi: 10.1007/s40477-022-00737-5. Epub 2022 Oct 31.
7
Dysfunctional peroxisomal lipid metabolisms and their ocular manifestations.过氧化物酶体脂质代谢功能障碍及其眼部表现。
Front Cell Dev Biol. 2022 Sep 7;10:982564. doi: 10.3389/fcell.2022.982564. eCollection 2022.
8
A Deficient Mouse Series Correlates Biochemical and Neurobehavioral Markers to Genotype Severity-Implications for the Disease Spectrum of Rhizomelic Chondrodysplasia Punctata Type 1.一个缺陷小鼠系列将生化和神经行为标志物与基因型严重程度相关联——对1型点状软骨发育不良的疾病谱的启示。
Front Cell Dev Biol. 2022 Jul 11;10:886316. doi: 10.3389/fcell.2022.886316. eCollection 2022.
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ATP8B2-Mediated Asymmetric Distribution of Plasmalogens Regulates Plasmalogen Homeostasis and Plays a Role in Intracellular Signaling.ATP8B2介导的缩醛磷脂不对称分布调节缩醛磷脂稳态并在细胞内信号传导中发挥作用。
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Peroxisomal disorders in neurology.神经病学中的过氧化物酶体疾病
J Neurol Sci. 1988 Dec;88(1-3):1-39. doi: 10.1016/0022-510x(88)90203-1.
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Class F Thy-1-negative murine lymphoma cells are deficient in ether lipid biosynthesis.F类Thy-1阴性小鼠淋巴瘤细胞在醚脂生物合成方面存在缺陷。
J Biol Chem. 1990 Sep 15;265(26):15653-8.
6
Human dihydroxyacetonephosphate acyltransferase deficiency: a new peroxisomal disorder.
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Biochemistry of peroxisomes.
Annu Rev Biochem. 1992;61:157-97. doi: 10.1146/annurev.bi.61.070192.001105.