Large deletion of the peroxisomal acyl-CoA oxidase gene in pseudoneonatal adrenoleukodystrophy (Q24628708)

5

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Stanislas Lyonnet

object named as

S Lyonnet

4

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author name string

B Fournier

1

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J M Saudubray

2

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B Benichou

3

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H Clevers

6

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B T Poll-The

Journal of Clinical Investigation

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language of work or name

English

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publication date

August 1994

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published in

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volume

94

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issue

2

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page(s)

526-31

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cites work

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Adrenoleukodystrophy: a complex chromosomal rearrangement in the Xq28 red/green-color-pigment gene region indicates two possible gene localizations

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A human gene responsible for Zellweger syndrome that affects peroxisome assembly

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Adrenoleukodystrophy gene: unexpected homology to a protein involved in peroxisome biogenesis

7 April 2017

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Gene assignment of Zellweger syndrome to 7q11.23: report of the second case associated with a pericentric inversion of chromosome 7

7 April 2017

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Peroxisomal bifunctional protein from rat liver is a trifunctional enzyme possessing 2-enoyl-CoA hydratase, 3-hydroxyacyl-CoA dehydrogenase, and delta 3, delta 2-enoyl-CoA isomerase activities

7 April 2017

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Mutations in the 70K peroxisomal membrane protein gene in Zellweger syndrome

7 April 2017

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Characterization of the gene encoding human peroxisomal 3-oxoacyl-CoA thiolase (ACAA). No large DNA rearrangement in a thiolase-deficient patient

7 April 2017

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Novel subtype of peroxisomal acyl-CoA oxidase deficiency and bifunctional enzyme deficiency with detectable enzyme protein: identification by means of complementation analysis

7 April 2017

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Lignoceric acid is oxidized in the peroxisome: implications for the Zellweger cerebro-hepato-renal syndrome and adrenoleukodystrophy

27 September 2017

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Neonatal adrenoleukodystrophy: new cases, biochemical studies, and differentiation from Zellweger and related peroxisomal polydystrophy syndromes

27 September 2017

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Two acyl-coenzyme A oxidases in peroxisomes of the yeast Candida tropicalis: primary structures deduced from genomic DNA sequence

27 September 2017

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27 September 2017

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Complete characterization of the human IGF-I nucleotide sequence isolated from a newly constructed adult liver cDNA library

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Peroxisomal bifunctional enzyme deficiency

27 September 2017

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A new peroxisomal disorder with enlarged peroxisomes and a specific deficiency of acyl-CoA oxidase (pseudo-neonatal adrenoleukodystrophy)

27 September 2017

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Molecular genetics of phenylketonuria in Mediterranean countries: a mutation associated with partial phenylalanine hydroxylase deficiency.

27 September 2017

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Peroxisomal protein import is conserved between yeast, plants, insects and mammals

27 September 2017

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Peroxisomal and mitochondrial defects in the cerebro-hepato-renal syndrome

27 September 2017

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Isolation and structural characterization of the rat acyl-CoA oxidase gene.

30 May 2018

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Standardization of complementation grouping of peroxisome-deficient disorders and the second Zellweger patient with peroxisomal assembly factor-1 (PAF-1) defect.

30 May 2018

1 reference

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Glycerolipid biosynthesis in peroxisomes via the acyl dihydroxyacetone phosphate pathway

28 November 2018

1 reference

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Infantile Refsum disease: an inherited peroxisomal disorder. Comparison with Zellweger syndrome and neonatal adrenoleukodystrophy.

28 November 2018

1 reference

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Role of peroxisomes in the biosynthesis of bile acids

28 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/8040306

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Zellweger syndrome and a microdeletion of the proximal long arm of chromosome 7

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/8040306

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Carboxyl-terminal consensus Ser-Lys-Leu-related tripeptide of peroxisomal proteins functions in vitro as a minimal peroxisome-targeting signal

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/8040306

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1172/JCI117365

1 reference

1 reference

1 reference

PubMed publication ID

8040306

1 reference