(Q30168107)

9 June 2017

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title

Clinical, biochemical and genetic aspects and neuronal migration in peroxisome biogenesis disorders (English)

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9 June 2017

Suzuki Y

1

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9 June 2017

Shimozawa N

2

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9 June 2017

Imamura A

3

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9 June 2017

Fukuda S

4

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9 June 2017

Zhang Z

5

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9 June 2017

Orii T

6

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9 June 2017

Kondo N

7

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9 June 2017

1 April 2001

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Journal of Inherited Metabolic Disease

9 June 2017

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9 June 2017

24

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9 June 2017

151-165

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9 June 2017

2

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

9 June 2017

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12 December 2020

Human adrenoleukodystrophy protein and related peroxisomal ABC transporters interact with the peroxisomal assembly protein PEX19p

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12 December 2020

A mouse model for Zellweger syndrome

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12 December 2020

MRI evidence that docosahexaenoic acid ethyl ester improves myelination in generalized peroxisomal disorders.

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12 December 2020

Peroxisome assembly factor-2, a putative ATPase cloned by functional complementation on a peroxisome-deficient mammalian cell mutant

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12 December 2020

Nonsense and temperature-sensitive mutations in PEX13 are the cause of complementation group H of peroxisome biogenesis disorders

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12 December 2020

PEX7 gene structure, alternative transcripts, and evidence for a founder haplotype for the frequent RCDP allele, L292ter.

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12 December 2020

Mutations in PEX10 is the cause of Zellweger peroxisome deficiency syndrome of complementation group B

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12 December 2020

Identification of PEX3 as the gene mutated in a Zellweger syndrome patient lacking peroxisomal remnant structures

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12 December 2020

Functional heterogeneity of C-terminal peroxisome targeting signal 1 in PEX5-defective patients

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12 December 2020

Individual peroxisomal beta-oxidation enzymes

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12 December 2020

Peroxisomal assembly defects: clinical, pathologic, and biochemical findings in two patients in a newly identified complementation group.

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12 December 2020

Temperature-sensitive mutation of PEX6 in peroxisome biogenesis disorders in complementation group C (CG-C): comparative study of PEX6 and PEX1

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12 December 2020

D-3-hydroxyacyl-CoA dehydratase/D-3-hydroxyacyl-CoA dehydrogenase bifunctional protein deficiency: a newly identified peroxisomal disorder

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12 December 2020

Disruption of a PEX1-PEX6 interaction is the most common cause of the neurologic disorders Zellweger syndrome, neonatal adrenoleukodystrophy, and infantile Refsum disease

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12 December 2020

Docosahexaenoic acid--a new therapeutic approach to peroxisomal-disorder patients: experience with two cases

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12 December 2020

Cerebro-hepato-renal (Zellweger) syndrome and neonatal adrenoleukodystrophy: similarities in phenotype and accumulation of very long chain fatty acids.

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12 December 2020

Cerebro-hepato-renal syndrome of Zellweger: an inherited disorder of neuronal migration.

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12 December 2020

PEX12 interacts with PEX5 and PEX10 and acts downstream of receptor docking in peroxisomal matrix protein import

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12 December 2020

Peroxisomal membrane ghosts in Zellweger syndrome--aberrant organelle assembly

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12 December 2020

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

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12 December 2020

Complementation study of peroxisome-deficient disorders by immunofluorescence staining and characterization of fused cells

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12 December 2020

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

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12 December 2020

Mutations in PEX1 are the most common cause of peroxisome biogenesis disorders

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12 December 2020

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

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12 December 2020

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

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12 December 2020

PEX19 binds multiple peroxisomal membrane proteins, is predominantly cytoplasmic, and is required for peroxisome membrane synthesis

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12 December 2020

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

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12 December 2020

Genetic basis of peroxisome-assembly mutants of humans, Chinese hamster ovary cells, and yeast: identification of a new complementation group of peroxisome-biogenesis disorders apparently lacking peroxisomal-membrane ghosts

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12 December 2020

Human peroxisome assembly factor-2 (PAF-2): a gene responsible for group C peroxisome biogenesis disorder in humans

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12 December 2020

Abnormal myelin formation in rhizomelic chondrodysplasia punctata type 2 (DHAPAT-deficiency).

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12 December 2020

Genetic heterogeneity in the cerebrohepatorenal (Zellweger) syndrome and other inherited disorders with a generalized impairment of peroxisomal functions. A study using complementation analysis

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12 December 2020

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

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12 December 2020

Isolated dihydroxyacetonephosphate-acyl-transferase deficiency in rhizomelic chondrodysplasia punctata: clinical presentation, metabolic and histological findings

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12 December 2020

A human gene responsible for Zellweger syndrome that affects peroxisome assembly

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12 December 2020

Mutation in PEX16 is causal in the peroxisome-deficient Zellweger syndrome of complementation group D.

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12 December 2020

A FAMILIAL SYNDROME OF MULTIPLE CONGENITAL DEFECTS

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12 December 2020

Targeted deletion of the PEX2 peroxisome assembly gene in mice provides a model for Zellweger syndrome, a human neuronal migration disorder

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12 December 2020

Pseudo-Zellweger syndrome: deficiencies in several peroxisomal oxidative activities.

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12 December 2020

Temperature-sensitive mutation in PEX1 moderates the phenotypes of peroxisome deficiency disorders

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12 December 2020

Genomic structure and identification of 11 novel mutations of the PEX6 (peroxisome assembly factor-2) gene in patients with peroxisome biogenesis disorders

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12 December 2020

Identification of PEX10, the gene defective in complementation group 7 of the peroxisome-biogenesis disorders

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12 December 2020

Molecular mechanism of detectable catalase-containing particles, peroxisomes, in fibroblasts from a PEX2-defective patient

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12 December 2020

The peroxin pex3p initiates membrane assembly in peroxisome biogenesis

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12 December 2020

Isolation of the human PEX12 gene, mutated in group 3 of the peroxisome biogenesis disorders

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12 December 2020

Genetic and phenotypic heterogeneity in disorders of peroxisome biogenesis--a complementation study involving cell lines from 19 patients

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12 December 2020

Distinction between peroxisomal bifunctional enzyme and acyl-CoA oxidase deficiencies

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12 December 2020

Temperature-sensitive phenotypes of peroxisome-assembly processes represent the milder forms of human peroxisome-biogenesis disorders

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12 December 2020

Involvement of Pex13p in Pex14p localization and peroxisomal targeting signal 2-dependent protein import into peroxisomes

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12 December 2020

A fatty acyl-CoA oxidizing system in rat liver peroxisomes; enhancement by clofibrate, a hypolipidemic drug

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12 December 2020

Human PEX1 is mutated in complementation group 1 of the peroxisome biogenesis disorders

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12 December 2020

Human PEX19: cDNA cloning by functional complementation, mutation analysis in a patient with Zellweger syndrome, and potential role in peroxisomal membrane assembly

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12 December 2020

Identifiers

DOI

10.1023/A:1010310816743

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Dimensions Publication ID

9 June 2017

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