Alkyl-dihydroxyacetonephosphate synthase. Fate in peroxisome biogenesis disorders and identification of the point mutation underlying a single enzyme deficiency (Q24308742)

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English	Alkyl-dihydroxyacetonephosphate synthase. Fate in peroxisome biogenesis disorders and identification of the point mutation underlying a single enzyme deficiency	scientific article

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scholarly article

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Alkyl-dihydroxyacetonephosphate synthase. Fate in peroxisome biogenesis disorders and identification of the point mutation underlying a single enzyme deficiency (English)

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Alkylglycerone phosphate synthase

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GOA release 2020-03-11

lipid biosynthetic process

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GOA release 2020-03-11

author name string

E C de Vet

1

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L Ijlst

2

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W Oostheim

3

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R J Wanders

4

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H van den Bosch

5

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language of work or name

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publication date

24 April 1998

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Journal of Biological Chemistry

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273

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17

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10296-301

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

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https://api.crossref.org/works/10.1074%2FJBC.273.17.10296

21 January 2018

Severe plasmalogen deficiency in tissues of infants without peroxisomes (Zellweger syndrome).

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https://api.crossref.org/works/10.1074%2FJBC.273.17.10296

21 January 2018

Oronasopharyngeal teratomas

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https://api.crossref.org/works/10.1074%2FJBC.273.17.10296

21 January 2018

Differential protein import deficiencies in human peroxisome assembly disorders

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https://api.crossref.org/works/10.1074%2FJBC.273.17.10296

21 January 2018

A unified nomenclature for peroxisome biogenesis factors

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https://api.crossref.org/works/10.1074%2FJBC.273.17.10296

21 January 2018

Restoration by a 35K membrane protein of peroxisome assembly in a peroxisome-deficient mammalian cell mutant

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https://api.crossref.org/works/10.1074%2FJBC.273.17.10296

21 January 2018

Mutations in the PTS1 receptor gene, PXR1, define complementation group 2 of the peroxisome biogenesis disorders

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https://api.crossref.org/works/10.1074%2FJBC.273.17.10296

21 January 2018

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

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https://api.crossref.org/works/10.1074%2FJBC.273.17.10296

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1074%2FJBC.273.17.10296

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1074%2FJBC.273.17.10296

21 January 2018

Human dihydroxyacetonephosphate acyltransferase deficiency: a new peroxisomal disorder

1 reference

https://api.crossref.org/works/10.1074%2FJBC.273.17.10296

21 January 2018

Rhizomelic chondrodysplasia punctata with isolated DHAP-AT deficiency

1 reference

https://api.crossref.org/works/10.1074%2FJBC.273.17.10296

21 January 2018

Isolated dihydroxyacetonephosphate acyltransferase deficiency presenting with developmental delay.

1 reference

https://api.crossref.org/works/10.1074%2FJBC.273.17.10296

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1074%2FJBC.273.17.10296

21 January 2018

Nucleotide sequence of human alkyl-dihydroxyacetonephosphate synthase cDNA reveals the presence of a peroxisomal targeting signal 2.

1 reference

https://api.crossref.org/works/10.1074%2FJBC.273.17.10296

21 January 2018

Peroxisomal fatty acid beta-oxidation in relation to the accumulation of very long chain fatty acids in cultured skin fibroblasts from patients with Zellweger syndrome and other peroxisomal disorders

1 reference

https://api.crossref.org/works/10.1074%2FJBC.273.17.10296

21 January 2018

Immunological Localization and Tissue Distribution of Alkyldihydroxyacetonephosphate Synthase and Deficiency of the Enzyme in Peroxisomal Disorders

1 reference

https://api.crossref.org/works/10.1074%2FJBC.273.17.10296

21 January 2018

Cleavage of Structural Proteins during the Assembly of the Head of Bacteriophage T4

1 reference

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Single-Step Method of RNA Isolation by Acid Guanidinium Thiocyanate–Phenol–Chloroform Extraction

1 reference

https://api.crossref.org/works/10.1074%2FJBC.273.17.10296

21 January 2018

High-resolution mapping of mammalian genes by in situ hybridization to free chromatin

1 reference

https://api.crossref.org/works/10.1074%2FJBC.273.17.10296

21 January 2018

Biosynthesis and maturation of peroxisomal beta-oxidation enzymes in fibroblasts in relation to the Zellweger syndrome and infantile Refsum disease

1 reference

https://api.crossref.org/works/10.1074%2FJBC.273.17.10296

21 January 2018

Degradation of the cleaved leader peptide of thiolase by a peroxisomal proteinase

1 reference

https://api.crossref.org/works/10.1074%2FJBC.273.17.10296

21 January 2018

Arginyl Residues: Anion Recognition Sites in Enzymes

1 reference

https://api.crossref.org/works/10.1074%2FJBC.273.17.10296

21 January 2018

Modes of DAPI banding and simultaneous in situ hybridization

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https://api.crossref.org/works/10.1074%2FJBC.273.17.10296

7 January 2021

based on heuristic

inferred from DOI database lookup

Human alkyldihydroxyacetonephosphate synthase deficiency: a new peroxisomal disorder

1 reference

https://api.crossref.org/works/10.1074%2FJBC.273.17.10296

7 January 2021

based on heuristic

inferred from DOI database lookup

Localization of enzymes involved in glycero-ether bond formation in rat liver

1 reference

https://api.crossref.org/works/10.1074%2FJBC.273.17.10296

7 January 2021

based on heuristic

inferred from DOI database lookup

Ether lipid synthesis: purification and identification of alkyl dihydroxyacetone phosphate synthase from guinea-pig liver

1 reference

https://api.crossref.org/works/10.1074%2FJBC.273.17.10296

7 January 2021

based on heuristic

inferred from DOI database lookup

Phenotype of patients with peroxisomal disorders subdivided into sixteen complementation groups

1 reference

https://api.crossref.org/works/10.1074%2FJBC.273.17.10296

7 January 2021

based on heuristic

inferred from DOI database lookup

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10.1074/JBC.273.17.10296

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