Disease: Rhizomelic chondrodysplasia punctata- type 2
- A mobile PTS2 receptor for peroxisomal protein import in Pichia pastoris
- A novel type of rhizomelic chondrodysplasia punctata, RCDP5, is caused by loss of the PEX5 long isoform
- A Pex7 hypomorphic mouse model for plasmalogen deficiency affecting the lens and skeleton
- Abnormal myelin formation in rhizomelic chondrodysplasia punctata type 2 (DHAPAT-deficiency)
- Acyl-CoA:dihydroxyacetonephosphate acyltransferase: cloning of the human cDNA and resolution of the molecular basis in rhizomelic chondrodysplasia punctata type 2
- Adult presentation of X-linked Conradi-Hünermann-Happle syndrome
- Alkyl-dihydroxyacetonephosphate synthase
- Alkyl-dihydroxyacetonephosphate synthase. Fate in peroxisome biogenesis disorders and identification of the point mutation underlying a single enzyme deficiency
- Alkyl-glycerol rescues plasmalogen levels and pathology of ether-phospholipid deficient mice
- Alkylglycerone phosphate synthase (AGPS) deficient mice: models for rhizomelic chondrodysplasia punctate type 3 (RCDP3) malformation syndrome
- Association between peroxisomal biogenesis factor 7 and autism spectrum disorders in a Korean population
- Blind sterile 2 (bs2), a hypomorphic mutation in Agps, results in cataracts and male sterility in mice
- C86Y: as a destructive homozygous mutation deteriorating Pex7p function causing rhizomelic chondrodysplasia punctata type I
- Chondrodysplasia punctata (author's transl)
- Chondrodysplasia punctata. 3 new cases and review of the Spanish literature
- Clinical and molecular analysis of UAE fibrochondrogenesis patients expands the phenotype and reveals two COL11A1 homozygous null mutations
- Clinical diagnosis of metabolic disorders using untargeted metabolomic profiling and disease-specific networks learned from profiling data
- Comparative study of serine-plasmalogens in human retina and optic nerve: identification of atypical species with odd carbon chains
- Congenital heart defects common in rhizomelic chondrodysplasia punctata
- CUL4A-DDB1-Rbx1 E3 ligase controls the quality of the PTS2 receptor Pex7p
- Differential deficiency of mevalonate kinase and phosphomevalonate kinase in patients with distinct defects in peroxisome biogenesis: evidence for a major role of peroxisomes in cholesterol biosynthesis
- Differential Eye Expression of Xenopus Acyltransferase Gnpat and Its Biochemical Characterization Shed Light on Lipid-Associated Ocular Pathologies
- Drosophila Courtship Conditioning As a Measure of Learning and Memory
- Ether lipid biosynthesis: alkyl-dihydroxyacetonephosphate synthase protein deficiency leads to reduced dihydroxyacetonephosphate acyltransferase activities
- Functional characterization of novel mutations in GNPAT and AGPS, causing rhizomelic chondrodysplasia punctata (RCDP) types 2 and 3
- Functional studies on human Pex7p: subcellular localization and interaction with proteins containing a peroxisome-targeting signal type 2 and other peroxins
- Genetic heterogeneity of peroxisome biogenesis disorders among Japanese patients: evidence for a founder haplotype for the most common PEX10 gene mutation
- Growth charts for individuals with rhizomelic chondrodysplasia punctata
- Homeostasis of phospholipids - The level of phosphatidylethanolamine tightly adapts to changes in ethanolamine plasmalogens
- Human PEX7 encodes the peroxisomal PTS2 receptor and is responsible for rhizomelic chondrodysplasia punctata
- Identification of a novel missense mutation of PEX7 gene in an Iranian patient with rhizomelic chondrodysplasia punctata type 1
- Identification of PEX7 as the second gene involved in Refsum disease
- Identification of three distinct peroxisomal protein import defects in patients with peroxisome biogenesis disorders
- Identifying a recombinant alkyldihydroxyacetonephosphate synthase suited for crystallographic studies
- Impaired neurotransmission in ether lipid-deficient nerve terminals
- In vitro and in vivo plasmalogen replacement evaluations in rhizomelic chrondrodysplasia punctata and Pelizaeus-Merzbacher disease using PPI-1011, an ether lipid plasmalogen precursor
- Intracellular localization, function, and dysfunction of the peroxisome-targeting signal type 2 receptor, Pex7p, in mammalian cells
- Isolation and characterization of novel peroxisome biogenesis-defective Chinese hamster ovary cell mutants using green fluorescent protein
- Isolation of Chinese hamster ovary cell pex mutants: two PEX7-defective mutants
- Lethal neonatal chondrodysplasias in the West of Scotland 1970-1983 with a description of a thanatophoric, dysplasialike, autosomal recessive disorder, Glasgow variant
- Lethal short-limbed chondrodysplasia in early infancy
- Mild reduction of plasmalogens causes rhizomelic chondrodysplasia punctata: functional characterization of a novel mutation
- Molecular basis of rhizomelic chondrodysplasia punctata type I: high frequency of the Leu-292 stop mutation in 38 patients
- Mutational spectrum in the PEX7 gene and functional analysis of mutant alleles in 78 patients with rhizomelic chondrodysplasia punctata type 1
- Neonatal Rhizomelic Chondrodysplasia Punctata Type 1: Weaving Evidence Into Clinical Practice
- Neonatal rhizomelic chondrodysplasia punctata type 2 caused by a novel homozygous variant in the <em>GNPAT</em> gene
- Neonatal rhizomelic chondrodysplasia punctata type 2 caused by a novel homozygous variant in the GNPAT gene
- Non-rhizomelic and rhizomelic chondrodysplasia punctata within a single complementation group
- Nonsense suppressor therapies rescue peroxisome lipid metabolism and assembly in cells from patients with specific PEX gene mutations
- Ocular involvement in chondrodystrophia calcificans congenita punctata
- Oral administration of a synthetic vinyl-ether plasmalogen normalizes open field activity in a mouse model of rhizomelic chondrodysplasia punctata
- Oral batyl alcohol supplementation rescues decreased cardiac conduction in ether phospholipid-deficient mice
- Peripheral nervous system plasmalogens regulate Schwann cell differentiation and myelination
- Peroxisomal disorder, rhizomelyc chondrodysplasia punctata type 1: case report
- Peroxisomes and neurologic diseases
- Plasmalogen phospholipids are involved in HDL-mediated cholesterol efflux: insights from investigations with plasmalogen-deficient cells
- Prenatal and perinatal diagnosis of peroxisomal disorders
- Prenatal diagnosis of chondrodysplasia punctata tibia-metacarpal type using multidetector CT and three-dimensional reconstruction
- Prenatal diagnosis of nonrhizomelic chondrodysplasia punctata (Conradi-Hünermann syndrome)
- PRENATAL DIAGNOSIS OF RHIZOMELIC CHONDRODYSPLASIA PUNCTATA
- Refsum's disease: a peroxisomal disorder affecting phytanic acid alpha-oxidation
- Rhizomelic chondrodysplasia punctata is caused by deficiency of human PEX7, a homologue of the yeast PTS2 receptor
- Rhizomelic Chondrodysplasia Punctata Type 1
- Rhizomelic chondrodysplasia punctata type 1 and fulminant neonatal respiratory failure, a case report and discussion of pathophysiology
- Rhizomelic Chondrodysplasia Punctata Type 1 Caused by a Novel Mutation in the PEX7 Gene
- Rhizomelic chondrodysplasia punctata type 1: report of mutations in 3 children from India
- Rhizomelic chondrodysplasia punctata, a peroxisomal biogenesis disorder caused by defects in Pex7p, a peroxisomal protein import receptor: a minireview
- Rhizomelic chondrodysplasia punctata: Role of EEG as a biomarker of impending epilepsy
- Rhizomelic chrondrodysplasia punctata type 2 resulting from paternal isodisomy of chromosome 1
- Rhizomelic type of chondrodysplasia punctata in 2 sisters. Evidence for hereditary transmission of a recessive autosomic type
- Second trimester prenatal diagnosis of rhizomelic chondrodysplasia punctata type 1 on ultrasound findings
- Stippled Calcifications over Bilateral Epiphyses of Humeri
- Studies on the oxidation of phytanic acid and pristanic acid in human fibroblasts by acylcarnitine analysis
- Surgical management of cervical spine deformity in chondrodysplasia punctata
- Targeted carrier screening for four recessive disorders: high detection rate within a founder population
- The ether lipid-deficient mouse: tracking down plasmalogen functions
- The import receptor Pex7p and the PTS2 targeting sequence
- The metabolism of phytanic acid and pristanic acid in man: a review
- The peroxisome and the eye
- The type-2 peroxisomal targeting signal
- Twins with PEX7 related intellectual disability and cataract: Highlighting phenotypes of peroxisome biogenesis disorder 9B
- Type 1 rhizomelic chondrodysplasia punctata with a homozygous PEX7 mutation