Phytanoyl-CoA hydroxylase is not only deficient in classical Refsum disease but also in rhizomelic chondrodysplasia punctata

被引：29

作者：

Jansen, GA

Mihalik, SJ

Watkins, PA

Moser, HW

Jakobs, C

Heijmans, HSA

Wanders, RJA

机构：

[1] UNIV AMSTERDAM,ACAD MED CTR,DEPT CLIN BIOCHEM,NL-1105 AZ AMSTERDAM,NETHERLANDS

[2] UNIV AMSTERDAM,ACAD MED CTR,DEPT PEDIAT,NL-1105 AZ AMSTERDAM,NETHERLANDS

[3] JOHNS HOPKINS UNIV,SCH MED,KENNEDY KRIEGER RES INST,DEPT PEDIAT,BALTIMORE,MD 21218

[4] JOHNS HOPKINS UNIV,SCH MED,KENNEDY KRIEGER RES INST,DEPT NEUROL,BALTIMORE,MD 21218

[5] FREE UNIV AMSTERDAM HOSP,DEPT CLIN CHEM,METAB UNIT,AMSTERDAM,NETHERLANDS

来源：

JOURNAL OF INHERITED METABOLIC DISEASE | 1997年 / 20卷 / 03期

关键词：

D O I：

10.1023/A:1005379406639

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

引用

页码：444 / 446

页数：3

共 10 条

[1] DISORDERS OF PEROXISOME BIOGENESIS
BRAVERMAN, N
DODT, G
GOULD, SJ
VALLE, D
[J]. HUMAN MOLECULAR GENETICS, 1995, 4 : 1791 - 1798
[2] Proteins involved in peroxisome biogenesis and functioning
Elgersma, Y
Tabak, HF
[J]. BIOCHIMICA ET BIOPHYSICA ACTA-REVIEWS ON BIOMEMBRANES, 1996, 1286 (03): : 269 - 283
[3] Phytanoyl-CoA hydroxylase is present in human liver, located in peroxisomes, and deficient in Zellweger syndrome: Direct, unequivocal evidence for the new, revised pathway of phytanic acid alpha-oxidation in humans
Jansen, GA
Mihalik, SJ
Watkins, PA
Moser, HW
Jakobs, C
Denis, S
Wanders, RJA
[J]. BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS, 1996, 229 (01) : 205 - 210
[4] JANSEN GA, 1997, IN PRESS N ENGL J ME
[5] PHYTANIC ACID ALPHA-OXIDATION IN RAT-LIVER PEROXISOMES - PRODUCTION OF ALPHA-HYDROXYPHYTANOYL-COA AND FORMATE IS ENHANCED BY DIOXYGENASE COFACTORS
MIHALIK, SJ
RAINVILLE, AM
WATKINS, PA
[J]. EUROPEAN JOURNAL OF BIOCHEMISTRY, 1995, 232 (02): : 545 - 551
[6] DIFFERENTIAL PROTEIN IMPORT DEFICIENCIES IN HUMAN PEROXISOME ASSEMBLY DISORDERS
MOTLEY, A
HETTEMA, E
DISTEL, B
TABAK, H
[J]. JOURNAL OF CELL BIOLOGY, 1994, 125 (04) : 755 - 767
[7] CLINICAL AND BIOCHEMICAL HETEROGENEITY IN CONDITIONS WITH PHYTANIC ACID ACCUMULATION
SKJELDAL, OH
STOKKE, O
REFSUM, S
NORSETH, J
PETIT, H
[J]. JOURNAL OF THE NEUROLOGICAL SCIENCES, 1987, 77 (01) : 87 - 96
[8] TENBRINK HJ, 1992, J LIPID RES, V33, P41
[9] PEROXISOMAL DISORDERS - A REVIEW
WANDERS, RJA
SCHUTGENS, RBH
BARTH, PG
[J]. JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY, 1995, 54 (05) : 726 - 739
[10] PHYTANIC ACID MUST BE ACTIVATED TO PHYTANOYL-COA PRIOR TO ITS ALPHA-OXIDATION IN RAT-LIVER PEROXISOMES
WATKINS, PA
HOWARD, AE
MIHALIK, SJ
[J]. BIOCHIMICA ET BIOPHYSICA ACTA-LIPIDS AND LIPID METABOLISM, 1994, 1214 (03): : 288 - 294

← 1 →