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  • 1
    Electronic Resource
    Electronic Resource
    Treatment of infantile phytanic acid storage disease: clinical, biochemical and ultrastructural findings in two children treated for 2 years (1988)
    Springer
    European journal of pediatrics 147 (1988), S. 133-142 
    Details
    ISSN: 1432-1076
    Keywords: Infantile Refsum disease ; Phytanic acid ; Dietary treatment ; Peroxisomes ; Ultrastructure
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Two patients with infantile phytanic acid storage disease (infantile Refsum disease), one of whom showed the presence of morphologically normal peroxisomes in a liver biopsy, were treated with a low phytanic acid diet for more than 2 years and the effects of treatment on certain clinical, biochemical and ultrastructural parameters were examined. Both patients showed evidence of either an improvement or stabilisation in their clinical condition. Plasma phytanic acid levels decreased to near normal values in approximately 6 weeks after the introduction of the diet; plasma pipecolic acid also declined markedly but the decrease was not so rapid and its level remained abnormal. C26∶C22 fatty acid ratios decreased very slowly and even after 2 years the values remained grossly abnormal. Despite the marked reduction of phytanic acid in the liver, there was an increase in the C26∶C22 fatty acid ratios and this appeared to be paralleled by an increase in inclusion bodies. Our data suggest that some patients with the infantile form of Refsum disease may show some clinical benefit from dietary management and this is reflected biochemically by decreases in the plasma levels of phytanic acid and pipecolic acid.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00442210
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  • 2
    Electronic Resource
    Electronic Resource
    Accumulation of pristanic acid (2, 6, 10, 14 tetramethylpentadecanoic acid) in the plasma of patients with generalised peroxisomal dysfunction (1988)
    Springer
    European journal of pediatrics 147 (1988), S. 143-147 
    Details
    ISSN: 1432-1076
    Keywords: Pristanic acid ; Phytanic acid ; Peroxisome ; β-oxidation
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract The plasma of some patients with biochemical evidence of a generalised peroxisomal dysfunction (GPD) show greatly increased levels of phytanic acid as well as its α-oxidation product, pristanic acid (2, 6, 10, 14-tetramethylpentadecanoic acid). Increased amounts of 14- and 16- carbon branched chain fatty acids are also found in some of these patients. As pristanic acid is present in normal or near-normal amounts in classical Refsum disease and rhizomelic chondrodysplasia, two disorders characterised by deficiencies in phytanic acid oxidation, we speculate that its accumulation is not secondary to a defect in the α-oxidation of phytanic acid, but is indicative of a block in the peroxisomal β-oxidation of pristanic acid. The finding of phytanic acid, as well as a number of its metabolites in patients with inherited defects in peroxisomal biogenesis indicates that a number of the steps in phytanic acid degradation may be confined to peroxisomes.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00442211
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  • 3
    Electronic Resource
    Electronic Resource
    Prenatal diagnosis of Zellweger syndrome and related disorders: Impaired degradation of phytanic acid (1986)
    Springer
    European journal of pediatrics 145 (1986), S. 507-510 
    Details
    ISSN: 1432-1076
    Keywords: Zellweger syndrome ; Prenatal diagnosis ; Phytanic acid ; Amniocytes ; Chorionic villous cells
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Normal amniocytes and chorionic villous cells in culture are able to produce14CO2 from exogenous [1-14C] phytanic acid. In contrast, cells from four fetuses at risk for the cerebro-hepato-renal (Zellweger) syndrome and related disorders showed a greatly reduced activity, indicating a block in oxidation of the fatty acid. Our data confirm that phytanic acid oxidase activity measurement can be used for the prenatal assessment of this group of disorders.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF02429053
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  • 4
    Electronic Resource
    Electronic Resource
    Molecular cloning and chromosomal location of genes encoding the “Early-methionine-labelled” (Em) polypeptide of Triticum aestivum L. var. Chinese Spring (1990)
    Springer
    Theoretical and applied genetics 80 (1990), S. 43-48 
    Details
    ISSN: 1432-2242
    Keywords: Wheat ; Em genes ; Group 1 chromosomes ; RFLPs
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology
    Notes: Summary The “Early-methionine-labelled” (Em) polypeptide is the most abundant cytosolic polypeptide found in mature wheat embryos. Using a near full-length cDNA clone as a hybridisation probe to detect genomic sequences by Southern blotting of electrophoretic separations of genomic DNA derived from Triticum aestivum L. var. Chinese Spring and a series of its aneuploid derivatives, we demonstrate that the Em polypeptide is the product of a small multigene family in which the copies are located on each of the long arms of the homoeologous group 1 chromosomes. Screening of a variety of genotypes additionally reveals a number of restriction fragment length polymorphisms associated with these loci. Screening of a library of genomic DNA cloned in the vector λEMBL 4 has resulted in the isolation of a genomic fragment containing two closely linked Em genes. These are separated by ca. 2.5 kb. Analysis of restriction enzyme digests of this clones fragment has identified it as originating from chromosome 1A.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00224014
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  • 5
    Electronic Resource
    Electronic Resource
    Location of β-amylase sequences in wheat and its relatives (1988)
    Springer
    Theoretical and applied genetics 75 (1988), S. 286-290 
    Details
    ISSN: 1432-2242
    Keywords: RFLP ; Wheat ; Aegilops ; Rye ; β-Amylase
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology
    Notes: Summary A β-amylase cDNA clone isolated from barley has been used to locate β-amylase encoding sequences on wheat, rye, and Aegilops umbellulata chromosomes by hybridisation to restriction endonuclease digested DNA obtained from wheat aneuploid and wheat-alien addition lines. Structural genes were identified on homoeologous group 4 and 5 chromosomes, confirming the results of isozyme studies. In addition, a further set of structural genes was found on homoeologous group 2 chromosomes. It is proposed that there are two homoeoallelic series, β-Amy-1 on group 4 or 5 chromosomes, and β-Amy-2 on group 2 chromosomes. Evidence is presented that each locus contains one or two β-amylase structural genes, and it is suggested that the large number of isozymes seen upon IEF are due to post-translational modifications.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00303966
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  • 6
    Electronic Resource
    Electronic Resource
    RFLP-based genetic maps of wheat homoeologous group 7 chromosomes (1989)
    Springer
    Theoretical and applied genetics 78 (1989), S. 495-504 
    Details
    ISSN: 1432-2242
    Keywords: Wheat ; Genetic mapping ; RFLPs ; Isozymes
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology
    Notes: Summary Restriction fragment length polymorphism (RFLP) mapping was attempted using 18 cDNA clones, 14 anonymous and 4 of known function, which had been shown to have homologous DNA sequences on the group 7 chromosomes of wheat. The loci identified by these probes have been mapped on one or more chromosomes in this homoeologous group using linkage data derived from various F2, random inbred, doubled haploid and single chromosome recombinant populations. The maps also include three isozyme loci, five disease resistance loci, two anthocyanin pigment loci and a vernalisation response locus. The mapping data have been used to determine the extent of map co-linearity over the A, B and D genomes, the degree of RFLP variability in the three genomes and the relative efficiency of various restriction enzymes in detecting RFLPs in wheat. The strategy for future mapping in wheat, particularly the use of “alien” genomes or segments, such as that from Aegilops ventricosa used here, is discussed.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00290833
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