(Q28250969)

1

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R Ofman

2

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S Ferdinandusse

3

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L Ijlst

4

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A O Muijsers

5

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O H Skjeldal

6

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O Stokke

7

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C Jakobs

8

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G T Besley

9

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J E Wraith

10

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R J Wanders

https://scigraph.springernature.com/pub.10.1038/ng1097-190

11

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language of work or name

English

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publication date

October 1997

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published in

Nature Genetics

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volume

17

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page(s)

190-3

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issue

2

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exact match

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cites work

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

1 reference

Rhizomelic chondrodysplasia punctata is a peroxisomal protein targeting disease caused by a non-functional PTS2 receptor

21 April 2017

1 reference

Rhizomelic chondrodysplasia punctata is caused by deficiency of human PEX7, a homologue of the yeast PTS2 receptor

21 April 2017

1 reference

Human PEX7 encodes the peroxisomal PTS2 receptor and is responsible for rhizomelic chondrodysplasia punctata

21 April 2017

1 reference

Basic local alignment search tool

21 April 2017

1 reference

https://api.crossref.org/works/10.1038%2FNG1097-190

Polymerase chain reaction-based cloning of alkyl-dihydroxyacetonephosphate synthase complementary DNA from guinea pig liver

21 April 2017

1 reference

https://api.crossref.org/works/10.1038%2FNG1097-190

Clinical and biochemical heterogeneity in conditions with phytanic acid accumulation

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG1097-190

7 January 2021

Phytanic acid alpha-oxidation in rat liver peroxisomes. Production of alpha-hydroxyphytanoyl-CoA and formate is enhanced by dioxygenase cofactors

1 reference

https://api.crossref.org/works/10.1038%2FNG1097-190

7 January 2021

alpha-Oxidation of 3-methyl-substituted fatty acids in rat liver. Production of formic acid instead of CO2, cofactor requirements, subcellular localization and formation of a 2-hydroxy-3-methylacyl-CoA intermediate

1 reference

https://api.crossref.org/works/10.1038%2FNG1097-190

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNG1097-190

7 January 2021

Phytanoyl-coenzyme A hydroxylase deficiency -- the enzyme defect in Refsum's disease

1 reference

https://api.crossref.org/works/10.1038%2FNG1097-190

7 January 2021

Peroxisome biogenesis

1 reference

https://api.crossref.org/works/10.1038%2FNG1097-190

7 January 2021

PEX genes on the rise

1 reference

https://api.crossref.org/works/10.1038%2FNG1097-190

7 January 2021

Compilation and analysis of sequences upstream from the translational start site in eukaryotic mRNAs

1 reference

https://api.crossref.org/works/10.1038%2FNG1097-190

7 January 2021

Amino-terminal presequence of the precursor of peroxisomal 3-ketoacyl-CoA thiolase is a cleavable signal peptide for peroxisomal targeting.

1 reference

https://api.crossref.org/works/10.1038%2FNG1097-190

7 January 2021

The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: causes and consequences

1 reference

https://api.crossref.org/works/10.1038%2FNG1097-190

7 January 2021

Molecular basis of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: identification of the major disease-causing mutation in the alpha-subunit of the mitochondrial trifunctional protein

1 reference

https://api.crossref.org/works/10.1038%2FNG1097-190

7 January 2021