Rhizomelic Chondrodysplasia Punctata, a Peroxisomal Biogenesis Disorder Caused by Defects in Pex7p, a Peroxisomal Protein Import Receptor: A Minireview

No abstract is available for this paper.

• Publication year

  1999

• Venue

  Neurochemical Research

• Publication date

  1999-04-01

• Fields of study

  Biology, Medicine

• Identifiers
  DOI 10.1023/A:1023957110171PMID 10227689
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

• Components involved in peroxisome import, biogenesis, proliferation, turnover, and movement.

  1998cited by this paper
• Molecular basis of rhizomelic chondrodysplasia punctata type I: High frequency of the Leu-292 Stop mutation in 38 patients

  1998cited by this paper
• A Mobile PTS2 Receptor for Peroxisomal Protein Import in Pichia pastoris

  1998cited by this paper
• Cholesterol biosynthesis, peroxisomes and peroxisomal disorders: Mevalonate kinase is not only deficient in Zellweger syndrome but also in rhizomelic chondrodysplasia punctata

  1998cited by this paper
• Phytanoyl-CoA hydroxylase is not only deficient in classical Refsum disease but also in rhizomelic chondrodysplasia punctata

  1997cited by this paper
• Rhizomelic chondrodysplasia punctata is caused by deficiency of human PEX7, a homologue of the yeast PTS2 receptor

  1997cited by this paper
• Nucleotide sequence of human alkyl-dihydroxyacetonephosphate synthase cDNA reveals the presence of a peroxisomal targeting signal 2.

  1997cited by this paper
• Refsum disease is caused by mutations in the phytanoyl–CoA hydroxylase gene

  1997cited by this paper
• Rhizomelic chondrodysplasia punctata is a peroxisomal protein targeting disease caused by a non-functional PTS2 receptor

  1997cited by this paper
• Sterol carrier protein X (SCPx) is a peroxisomal branched-chain beta-ketothiolase specifically reacting with 3-oxo-pristanoyl-CoA: a new, unique role for SCPx in branched-chain fatty acid metabolism in peroxisomes.

  1997cited by this paper
• Ether lipid biosynthesis: isolation and molecular characterization of human dihydroxyacetonephosphate acyltransferase

  1997cited by this paper
• Peroxisomes: Organelles at the crossroads.

  1997cited by this paper
• Human PEX7 encodes the peroxisomal PTS2 receptor and is responsible for rhizomelic chondrodysplasia punctata

  1997cited by this paper
• Identification of PAHX, a Refsum disease gene

  1997cited by this paper
• PEX genes on the rise

  1997cited by this paper
• Peb1p (Pas7p) is an intraperoxisomal receptor for the NH2-terminal, type 2, peroxisomal targeting sequence of thiolase: Peb1p itself is targeted to peroxisomes by an NH2-terminal peptide

  1996cited by this paper
• The Pichia pastoris peroxisomal protein PAS8p is the receptor for the C‐terminal tripeptide peroxisomal targeting signal.

  1995cited by this paper
• Pay32p of the yeast Yarrowia lipolytica is an intraperoxisomal component of the matrix protein translocation machinery

  1995cited by this paper
• Mutations in the PTS1 receptor gene, PXR1, define complementation group 2 of the peroxisome biogenesis disorders

  1995cited by this paper
• Phenotype of patients with peroxisomal disorders subdivided into sixteen complementation groups.

  1995cited by this paper
• The Hansenula polymorpha PER3 Gene Is Essential for the Import of PTS1 Proteins into the Peroxisomal Matrix (*)

  1995cited by this paper
• Disorders of peroxisome biogenesis.

  1995cited by this paper
• Identification of peroxisomal membrane ghosts with an epitope‐tagged integral membrane protein in yeast mutants lacking peroxisomes

  1995cited by this paper
• PEB1 (PAS7) in Saccharomyces cerevisiae encodes a hydrophilic, intra- peroxisomal protein that is a member of the WD repeat family and is essential for the import of thiolase into peroxisomes

  1995cited by this paper
• Differential protein import deficiencies in human peroxisome assembly disorders

  1994cited by this paper
• Peroxisomal biogenesis: multiple pathways of protein import.

  1994cited by this paper
• PAS7 encodes a novel yeast member of the WD‐40 protein family essential for import of 3‐oxoacyl‐CoA thiolase, a PTS2‐containing protein, into peroxisomes.

  1994cited by this paper
• The peroxisomal targeting signal of 3‐oxoacyl‐coA thiolase from Saccharomyces cerevisiae

  1994cited by this paper
• Mutagenesis of the amino targeting signal of Saccharomyces cerevisiae 3-ketoacyl-CoA thiolase reveals conserved amino acids required for import into peroxisomes in vivo.

  1994cited by this paper
• Human alkyldihydroxyacetonephosphate synthase deficiency: A new peroxisomal disorder

  1994cited by this paper
• The pas8 mutant of Pichia pastoris exhibits the peroxisomal protein import deficiencies of Zellweger syndrome cells--the PAS8 protein binds to the COOH-terminal tripeptide peroxisomal targeting signal, and is a member of the TPR protein family.

  1993cited by this paper
• PAS10 is a tetratricopeptide-repeat protein that is essential for the import of most matrix proteins into peroxisomes of Saccharomyces cerevisiae.

  1993cited by this paper
• Human dihydroxyacetonephosphate acyltransferase deficiency: A new peroxisomal disorder

  1992cited by this paper
• Amino-terminal presequence of the precursor of peroxisomal 3-ketoacyl-CoA thiolase is a cleavable signal peptide for peroxisomal targeting.

  1991cited by this paper
• A novel, cleavable peroxisomal targeting signal at the amino‐terminus of the rat 3‐ketoacyl‐CoA thiolase.

  1991cited by this paper
• Rhizomelic chondrodysplasia punctata. Deficiency of 3-oxoacyl-coenzyme A thiolase in peroxisomes and impaired processing of the enzyme.

  1990cited by this paper
• Peroxisomal integral membrane proteins in control and Zellweger fibroblasts.

  1988cited by this paper
• Peroxisomal membrane ghosts in Zellweger syndrome--aberrant organelle assembly.

  1988cited by this paper
• Biochemical abnormalities in rhizomelic chondrodysplasia punctata.

  1988cited by this paper
• Human peroxisomal 3-oxoacyl-coenzyme A thiolase deficiency.

  1987cited by this paper
• Peroxisomal abnormalities in rhizomelic chondrodysplasia punctata

  1986cited by this paper
• Peroxisomal disorders: A newly recognised group of genetic diseases

  1986cited by this paper
• Rhizomelic chondrodysplasia punctata: another peroxisomal disorder.

  1985cited by this paper
• Primary hyperparathyroidism associated with pancytosis.

  1985cited by this paper

• Neonatal rhizomelic chondrodysplasia punctata type 2 caused by a novel homozygous variant in the GNPAT gene

  2023cites this paper
• Vitamin B6, B12 and folate modulate deregulated pathways and protein aggregation in yeast model of Huntington disease

  2023cites this paper
• Structural Characterization and Quantitation of Ether-Linked Glycerophospholipids in Peroxisome Biogenesis Disorder Tissue by Ultraviolet Photodissociation Mass Spectrometry.

  2022cites this paper
• Peroxisome Assembly, Degradation, and Disease

  2020cites this paper
• A Mouse Model System to Study Peroxisomal Roles in Neurodegeneration of Peroxisome Biogenesis Disorders.

  2020cites this paper
• Aging lowers PEX5 levels in cortical neurons in male and female mouse brains.

  2020cites this paper
• Peroxisomal Dysfunction in Neurological Diseases and Brain Aging

  2020cites this paper
• Application of machine learning algorithms for the differential diagnosis of peroxisomal disorders

  2018cites this paper
• Peroxisomes in Different Skeletal Cell Types during Intramembranous and Endochondral Ossification and Their Regulation during Osteoblast Differentiation by Distinct Peroxisome Proliferator-Activated Receptors

  2015cites this paper
• Plasmalogens and fatty alcohols in rhizomelic chondrodysplasia punctata and Sjögren-Larsson syndrome

  2015cites this paper
• Comparative profiling of the peroxisomal proteome of wildtype and Pex7 knockout mice by quantitative mass spectrometry

  2012cites this paper
• The importance of ether-phospholipids: a view from the perspective of mouse models.

  2012cites this paper
• Association Between Peroxisomal Biogenesis Factor 7 and Autism Spectrum Disorders in a Korean Population

  2012cites this paper
• University of Alberta

  2011cites this paper
• Structural Requirements for Interaction of Peroxisomal Targeting Signal 2 and Its Receptor PEX7*

  2011cites this paper
• Alkyl-Glycerol Rescues Plasmalogen Levels and Pathology of Ether-Phospholipid Deficient Mice

  2011cites this paper
• In vitro and in vivo plasmalogen replacement evaluations in rhizomelic chrondrodysplasia punctata and Pelizaeus-Merzbacher disease using PPI-1011, an ether lipid plasmalogen precursor

  2011cites this paper
• Characterization of cellular membranes under conditions of ether lipid deficiency

  2011cites this paper
• Refsum Disease- a Disorder of Peroxisomal Alpha-oxidation

  2010cites this paper
• The mouse as a model to understand peroxisomal disorders

  2009cites this paper
• Molecular and cellular mechanisms of peroxisomal fusion and aging in yeast

  2009cites this paper
• The role of Acyl-CoA oxidase in peroxisome division and longevity in yeast

  2009cites this paper
• Alkyl-glycerol supplementation rescues pathology in peripheral organs of ether-lipid deficient mice

  2009cites this paper
• ChapterChapter 2 IDENTIFICATIO NN OF PEX 7 AS THE SECOND GENE INVOLVE DD IN REFSUM DISEASE

  2008cites this paper
• Mechanisms of aging and development in the nematode caenorhabditis elegans

  2008cites this paper
• Plasmalogens participate in very-long-chain fatty acid-induced pathology.

  2008cites this paper
• Identificatio nn of the peroxisomal p-oxidation enzymes involved in the biosynthesiss of docosahexaenoic acid

  2007cites this paper
• Peroxisomal disorders affecting phytanic acid alpha-oxidation: a review.

  2007cites this paper
• UvA-DARE ( Digital Academic Repository ) New insights in peroxisomal beta-oxidation

  2007cites this paper
• Peroxisomal disorders affecting phytanic acid α-oxidation: a review

  2007cites this paper
• Phytanic acid: production from phytol, its breakdown and role in human disease

  2006cites this paper
• Generalised and conditional inactivation of Pex genes in mice.

  2006cites this paper
• A clinical guide to inherited metabolic diseases

  2006cites this paper
• Failure of microtubule-mediated peroxisome division and trafficking in disorders with reduced peroxisome abundance

  2006cites this paper
• Molecular Mechanisms of Organelle Biogenesis and Related Metabolic Diseases

  2005cites this paper
• A Case of Rhizomelic Chondrodysplasia Punctata Occurring in Siblings

  2004cites this paper
• Ichthyosis and keratotic follicular plugs containing dystrophic calcification in newborns: distinctive histopathologic features of x-linked dominant chondrodysplasia punctata (Conradi-Hünermann-Happle syndrome).

  2004cites this paper
• Neurocutaneous Disorders: Peroxisomal disorders

  2004cites this paper
• Identification of the peroxisomal beta-oxidation enzymes involved in the degradation of long-chain dicarboxylic acids.

  2004cites this paper
• Physiology and pathophysiology of the growth plate.

  2003cites this paper
• Impaired neuronal migration and endochondral ossification in Pex7 knockout mice: a model for rhizomelic chondrodysplasia punctata.

  2003cites this paper
• UvA-DARE ( Digital Academic Repository ) Identification of PEX 7 as the second gene involved in Refsum disease

  2003influential citation
• Identification of PEX7 as the second gene involved in Refsum disease.

  2003influential citation
• Identification of the peroxisomal beta-oxidation enzymes involved in the degradation of leukotrienes.

  2002cites this paper
• A Case of Chondrodysplasia Punctata Combined with Unilateral Choanal Atresia

  2002cites this paper
• New insights in peroxisomal beta-oxidation

  2002cites this paper
• Refsum's disease: a peroxisomal disorder affecting phytanic acid α‐oxidation

  2002influential citation
• RNA interference of peroxisome-related genes in C. elegans: a new model for human peroxisomal disorders.

  2002cites this paper
• Chromosome 6.

  2002cites this paper
• Lethal form of chondrodysplasia punctata with normal plasmalogen and cholesterol biosynthesis.

  2001cites this paper
• Peroxisomal straight-chain Acyl-CoA oxidase and D-bifunctional protein are essential for the retroconversion step in docosahexaenoic acid synthesis.

  2001cites this paper
• Identification of the peroxisomal beta-oxidation enzymes involved in the biosynthesis of docosahexaenoic acid.

  2001cites this paper
• Kyphomelic dysplasia: a rare form of semilethal skeletal dysplasia

  2000cites this paper