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The type-2 peroxisomal targeting signal.
Kunze M. Kunze M. Biochim Biophys Acta Mol Cell Res. 2020 Feb;1867(2):118609. doi: 10.1016/j.bbamcr.2019.118609. Epub 2019 Nov 18. Biochim Biophys Acta Mol Cell Res. 2020. PMID: 31751594 Free article. Review.
The type-2 peroxisomal targeting signal (PTS2) is one of two peptide motifs destining soluble proteins for peroxisomes. ...Although only a few PTS2-carrying proteins are known in humans, subjects lacking a functional import mechanism for these proteins suffer from t …
The type-2 peroxisomal targeting signal (PTS2) is one of two peptide motifs destining soluble proteins for peroxisomes. ...Alt …
Alkyl-dihydroxyacetonephosphate synthase.
de Vet EC, van den Bosch H. de Vet EC, et al. Cell Biochem Biophys. 2000;32 Spring:117-21. doi: 10.1385/cbb:32:1-3:117. Cell Biochem Biophys. 2000. PMID: 11330037 Review.
In both cases, the enzyme appears to be synthesized as a precursor protein with a N-terminal cleavable presequence containing a peroxisomal targeting signal (PTS) type 2. Levels of the enzyme protein were found to be strongly reduced in human fibroblasts derived fro …
In both cases, the enzyme appears to be synthesized as a precursor protein with a N-terminal cleavable presequence containing a peroxisomal …
Neonatal Rhizomelic Chondrodysplasia Punctata Type 1: Weaving Evidence Into Clinical Practice.
Landino J, Jnah AJ, Newberry DM, Iben SC. Landino J, et al. J Perinat Neonatal Nurs. 2017 Oct/Dec;31(4):350-357. doi: 10.1097/JPN.0000000000000282. J Perinat Neonatal Nurs. 2017. PMID: 29068853 Review.
Rhizomelic chondrodysplasia punctata (RCDP) is a rare genetic peroxisome biogenesis disorder with a reported incidence of 1 in 100 000 live births. ...The purpose of this article is to anticipate the needs of both patients with known and prenatal diagnosis of …
Rhizomelic chondrodysplasia punctata (RCDP) is a rare genetic peroxisome biogenesis disorder with a reported incidence …
The peroxisome and the eye.
Folz SJ, Trobe JD. Folz SJ, et al. Surv Ophthalmol. 1991 Mar-Apr;35(5):353-68. doi: 10.1016/0039-6257(91)90185-i. Surv Ophthalmol. 1991. PMID: 1710072 Free article. Review.
The peroxisomal disorders have been divided into three groups: 1) those that result from defective biogenesis of the peroxisome (Zellweger syndrome, neonatal adrenoleukodystrophy, and infantile Refsum's disease); 2) those that result from multiple enzyme deficiencies (r …
The peroxisomal disorders have been divided into three groups: 1) those that result from defective biogenesis of the peroxisome (Zellweger s …
Refsum's disease: a peroxisomal disorder affecting phytanic acid alpha-oxidation.
Wierzbicki AS, Lloyd MD, Schofield CJ, Feher MD, Gibberd FB. Wierzbicki AS, et al. J Neurochem. 2002 Mar;80(5):727-35. doi: 10.1046/j.0022-3042.2002.00766.x. J Neurochem. 2002. PMID: 11948235 Free article. Review.
Certain cases have been shown to be atypical mild variants of rhizomelic chondrodysplasia punctata type 1a. Other atypical cases with low-plasma phytanic acid may be caused by alpha-methylacyl-CoA racemase deficiency. A sterol-carrier protein-2 …
Certain cases have been shown to be atypical mild variants of rhizomelic chondrodysplasia punctata type 1a. Othe …
Rhizomelic chondrodysplasia punctata, a peroxisomal biogenesis disorder caused by defects in Pex7p, a peroxisomal protein import receptor: a minireview.
Purdue PE, Skoneczny M, Yang X, Zhang JW, Lazarow PB. Purdue PE, et al. Neurochem Res. 1999 Apr;24(4):581-6. doi: 10.1023/a:1023957110171. Neurochem Res. 1999. PMID: 10227689 Review.
Rhizomelic chondrodysplasia punctata (RCDP) is a lethal autosomal recessive disease corresponding to complementation group 11 (CG11), the second most common of the thirteen CGs of peroxisomal biogenesis disorders (PBDs). ...Human PEX7 was identified by virtue …
Rhizomelic chondrodysplasia punctata (RCDP) is a lethal autosomal recessive disease corresponding to complementation gr …
Prenatal and perinatal diagnosis of peroxisomal disorders.
Schutgens RB, Schrakamp G, Wanders RJ, Heymans HS, Tager JM, van den Bosch H. Schutgens RB, et al. J Inherit Metab Dis. 1989;12 Suppl 1:118-34. doi: 10.1007/BF01799291. J Inherit Metab Dis. 1989. PMID: 2509803 Review.
Peroxisomal disorders, a group of genetic diseases caused by peroxisomal dysfunction, can be classified into three groups: (1) disorders of peroxisome biogenesis with a generalized loss of peroxisomal functions (Zellweger syndrome, neonatal adrenoleukodystrophy, infantile Refsum …
Peroxisomal disorders, a group of genetic diseases caused by peroxisomal dysfunction, can be classified into three groups: (1) disorders of …
The metabolism of phytanic acid and pristanic acid in man: a review.
Verhoeven NM, Wanders RJ, Poll-The BT, Saudubray JM, Jakobs C. Verhoeven NM, et al. J Inherit Metab Dis. 1998 Oct;21(7):697-728. doi: 10.1023/a:1005476631419. J Inherit Metab Dis. 1998. PMID: 9819701 Review.
In classical Refsum disease, the enzyme that converts phytanoyl-CoA into 2-hydroxyphytanoyl-CoA--phytanoyl-CoA hydroxylase--is deficient, resulting in highly elevated levels of phytanic acid in blood and tissues. Also in rhizomelic chondrodysplasia punctat …
In classical Refsum disease, the enzyme that converts phytanoyl-CoA into 2-hydroxyphytanoyl-CoA--phytanoyl-CoA hydroxylase--is defici …
The import receptor Pex7p and the PTS2 targeting sequence.
Lazarow PB. Lazarow PB. Biochim Biophys Acta. 2006 Dec;1763(12):1599-604. doi: 10.1016/j.bbamcr.2006.08.011. Epub 2006 Aug 22. Biochim Biophys Acta. 2006. PMID: 16996627 Free article. Review.
This chapter concerns one branch of the peroxisome import pathway for newly-synthesized peroxisomal proteins, specifically the branch for matrix proteins that contain a peroxisome targeting sequence type 2 (PTS2). The structure and utilization of the PTS2 are discus …
This chapter concerns one branch of the peroxisome import pathway for newly-synthesized peroxisomal proteins, specifically the branch for ma …
A new test method for biochemical analysis of plasmalogens in dried blood spots and erythrocytes from patients with peroxisomal disorders.
Wegwerth PJ, White AL, Stoway SD, Loken PR, Oglesbee D, Matern D, Tortorelli S, Raymond KM, Braverman NE, Gavrilov DK. Wegwerth PJ, et al. J Inherit Metab Dis. 2023 Nov;46(6):1159-1169. doi: 10.1002/jimd.12682. Epub 2023 Oct 31. J Inherit Metab Dis. 2023. PMID: 37747296 Review.
Measurement of plasmalogens is useful for the biochemical diagnosis of rhizomelic chondrodysplasia punctata (RCDP) and is also informative for Zellweger spectrum disorders (ZSD). ...Determination of preliminary disease ranges was made by using 45 samples from …
Measurement of plasmalogens is useful for the biochemical diagnosis of rhizomelic chondrodysplasia punctata (RCDP) and …
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