Human disorders of peroxisome metabolism and biogenesis

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Human disorders of peroxisome metabolism and biogenesis

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作者：Hans R. Waterham ; ^{h.r.waterham@amc.uva.nl" class="auth_mail" title="E-mail the corresponding author} ; Sacha Ferdinandusse ; Ronald J.A. Wanders
关键词：ACAA1 ; 3-ketoacyl-CoA thiolase ; ACOX1 ; Acyl-CoA oxidase 1 ; ACOX2 ; acyl-CoA oxidase 2 ; ABCD1 ; ABC transporter D1 ; ABCD2 ; ABC transporter D2 ; ABCD3 ; ABC transporter D3 ; AGPS ; alkyl-dihydroxyacetonephosphate synthase ; AGT ; alanine-glyoxylate aminotransferase ; AMACR ; 2-methylacyl-CoA racemace ; BAAT ; Bile acid&ndash ; CoA ; amino acid N-acyltransferase ; brAcyl ; branched-acyl ; CA ; cholic acid ; CAT ; catalase ; CDCA ; chenodeoxycholic acid ; CoA ; coenzyme A ; DBP ; D-bifunctional protein ; DCA ; dicarboxylic acids
刊名：Biochimica et Biophysica Acta (BBA)-Molecular Cell Research
出版年：2016
出版时间：May 2016
年：2016
卷：1863
期：5
页码：922-933
全文大小：1077 K

文摘

•: Peroxisomes play an essential role in human metabolism.
•: Peroxisomes are involved in multiple catabolic and anabolic metabolic pathways.
•: Peroxisomal single enzyme deficiencies affect specific metabolic pathways.
•: Peroxisome biogenesis disorders affect the assembly and maintenance of peroxisomes and multiple metabolic pathways.

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