Peroxisomal Disorders and Regulation of Genes / Edition 1

Hardcover (Print)
Buy New
Buy New from
Used and New from Other Sellers
Used and New from Other Sellers
from $50.02
Usually ships in 1-2 business days
(Save 83%)
Other sellers (Hardcover)
  • All (4) from $50.02   
  • New (2) from $50.01   
  • Used (2) from $95.75   


In most peroxisomal disorders the nervous system is severely affected which explains the clinical and community burden they represent. This is the first book to focus not only on the mutations causing these inherited illnesses, but also on mechanisms that regulate, suppress or enhance expression of genes and their products (enzymes). Indeed since the success and completion of the Human Genome Project all genes (coding DNA sequences) are known. However, of many, their function, and the role of the gene product has not been determined. An example is X-linked adrenoleukodystrophy, the most frequent peroxisomal disorder. Children are born healthy, but in more than 1 out of 3, demyelination of the brain starts unpredictably and they die in a vegetative state. The gene mutated in most families has been known for 10 years; but the true role of the encoded protein, ALDp, is still speculative; and within the same family, very severe and asymptomatic clinical histories co-exist, unexplained by the mutation.

Read More Show Less

Product Details

Table of Contents

* Foreword; H. Galjaard. Why study regulation of genes in inherited disorders? F. Roels.
* Variable Expression Of Peroxisomes And Their Disorders. Phenotypic variability (heterogeneity) of peroxisomal disorders; H. Mandel, S. Korman. Mulibrey nanism: a novel peroxisomal disorder; J. Kallijärvi, et al. Peroxisomes during development and in distinct cell types; F. Roels, et al. Tissue-specific expression of two peroxisomal 3-ketoacyl-CoA thiolase genes in wild and PPARalpha-null mice and induction by fenofibrate; G. Chevillard, et al. Clinical features and retinal function in patients with adult Refsum syndrome; B. Leroy, et al. Is there a phenotype/genotype correlation in peroxisome biogenesis disorders (PBDs)? J. Gärtner. Biochemical markers predicting survival in peroxisome biogenesis disorders; J. Gootjes, et al. Identification of PEX7 as the second gene involved in Refsum disease; D. Van Den Brink, et al. Genetic heterogeneity in Japanese patients with peroxisome biogenesis disorders and evidence for a founder haplotype for the most common mutation in PEX10 gene; N. Shimozawa, et al. Disturbances of valine metabolism in patients with peroxisomal biogenesis disorders; F. Eyskens, M. Lefevere. Mouse models and genetic modifiers in X-linked adrenoleukodystrophy; A. Heinzer, et al. Evidence against the adrenoleukodystrophy-related gene acting as a modifier of X-adrenoleukodystrophy; A. Holzinger, et al. Peroxisome mosaics; F. Roels, et al. Resolution of the molecular defect in a patient with peroxisomal mosaicism in the liver; J. Gootjes, et al. Lessons from knockout mice I: Phenotypes of mice with peroxisome biogenesis disorders; M. Baes, P. Van Veldhoven. Lessons from knockout mice II: Mouse models for peroxisomal disorders with singleprotein deficiency; J. Berger, et al.
* Molecular Mechanisms Of Gene Regulation. DNA methylation and human diseases; O. El-Maarri. RNA silencing; J. Grabarek. Imprinting; M. De Rycke. Histone Modifications-Marks for Gene Expression? A. Imhof. A paradigm for gene regulation: inflammation, NF-kB and PPAR; W. Vanden Berghe, et al.
* Investigative Techniques. Methods: DNA methylation; O. El-Maarri. RNA interference in mammalian systems: A practical approach; J. Grabarek, M. Zernicka-Goetz. Histone modifications: methods and techniques; A. Imhof. Characterization of the peroxisomal cycling receptor Pex5p import pathway; A. Gouveia, et al. Interaction of PEX3 and PEX19 visualized by fluorescence resonance energy transfer (FRET); A. Muntau, et al.
* Regulation Of Peroxisome Expression. Gene Regulation of Peroxisomal Enzymes by Nutrients, Hormones and Nuclear Signalling Factors in Animal and Human Species; N. Latruffe, et al. Regulation of peroxisomal genes by dehydroepiandosterone and vit D; M. Depreter, et al. Effect of DHEA supplementation on fatty acid and hormone levels in patients with X-linked adrenoleukodystrophy; J. Assies, et al. Dehydroepiandrosterone induction of the Abcd2 and Abcd3 genes encoding peroxisomal ABC transporters: implications for X-linked adrenoleukodystrophy; F. Gueugnon, et al. Phytanic and pristanic acids are naturally occurring ligands; A. Zomer, et al. Modifying the peroxisomes by cell & tissue culture: I. Modified peroxisomes in primary hepayte cultures; M. Depreter, et al. II. Fibroblasts; M. Giros, M. Ruiz. III. Peroxisomes and PPAR in cultured neural cells; A. Cimini, et al. Pharmacological induction of redundant genes for a therapy

Read More Show Less

Customer Reviews

Be the first to write a review
( 0 )
Rating Distribution

5 Star


4 Star


3 Star


2 Star


1 Star


Your Rating:

Your Name: Create a Pen Name or

Barnes & Review Rules

Our reader reviews allow you to share your comments on titles you liked, or didn't, with others. By submitting an online review, you are representing to Barnes & that all information contained in your review is original and accurate in all respects, and that the submission of such content by you and the posting of such content by Barnes & does not and will not violate the rights of any third party. Please follow the rules below to help ensure that your review can be posted.

Reviews by Our Customers Under the Age of 13

We highly value and respect everyone's opinion concerning the titles we offer. However, we cannot allow persons under the age of 13 to have accounts at or to post customer reviews. Please see our Terms of Use for more details.

What to exclude from your review:

Please do not write about reviews, commentary, or information posted on the product page. If you see any errors in the information on the product page, please send us an email.

Reviews should not contain any of the following:

  • - HTML tags, profanity, obscenities, vulgarities, or comments that defame anyone
  • - Time-sensitive information such as tour dates, signings, lectures, etc.
  • - Single-word reviews. Other people will read your review to discover why you liked or didn't like the title. Be descriptive.
  • - Comments focusing on the author or that may ruin the ending for others
  • - Phone numbers, addresses, URLs
  • - Pricing and availability information or alternative ordering information
  • - Advertisements or commercial solicitation


  • - By submitting a review, you grant to Barnes & and its sublicensees the royalty-free, perpetual, irrevocable right and license to use the review in accordance with the Barnes & Terms of Use.
  • - Barnes & reserves the right not to post any review -- particularly those that do not follow the terms and conditions of these Rules. Barnes & also reserves the right to remove any review at any time without notice.
  • - See Terms of Use for other conditions and disclaimers.
Search for Products You'd Like to Recommend

Recommend other products that relate to your review. Just search for them below and share!

Create a Pen Name

Your Pen Name is your unique identity on It will appear on the reviews you write and other website activities. Your Pen Name cannot be edited, changed or deleted once submitted.

Your Pen Name can be any combination of alphanumeric characters (plus - and _), and must be at least two characters long.

Continue Anonymously

    If you find inappropriate content, please report it to Barnes & Noble
    Why is this product inappropriate?
    Comments (optional)