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dc.contributor.authorCrane, DI
dc.contributor.authorMaxwell, MA
dc.contributor.authorPaton, BC
dc.date.accessioned2017-05-03T11:01:46Z
dc.date.available2017-05-03T11:01:46Z
dc.date.issued2005
dc.date.modified2007-03-19T21:47:45Z
dc.identifier.issn1059-7794
dc.identifier.urihttp://hdl.handle.net/10072/4445
dc.description.abstractDiseases of the Zellweger spectrum represent a major subgroup of the peroxisome biogenesis disorders, a group of autosomal-recessive diseases that are characterized by widespread tissue pathology, including neurodegeneration. The Zellweger spectrum represents a clinical continuum, with Zellweger syndrome (ZS) having the most severe phenotype, and neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD) having progressively milder phenotypes. Mutations in the PEX1 gene, which encodes a 143-kDa AAA ATPase protein required for peroxisome biogenesis, are the most common cause of the Zellweger spectrum diseases. The PEX1 mutations identified to date comprise insertions, deletions, nonsense, missense, and splice site mutations. Mutations that produce premature truncation codons (PTCs) are distributed throughout the PEX1 gene, whereas the majority of missense mutations segregate with the two essential AAA domains of the PEX1 protein. Severity at the two ends of the Zellweger spectrum correlates broadly with mutation type and impact (i.e., the severe ZS correlates with PTCs on both alleles, and the milder phenotypes correlate with missense mutations), but exceptions to these general correlations exist. This article provides an overview of the currently known PEX1 mutations, and includes, when necessary, revised mutation nomenclature and genotype-phenotype correlations that may be useful for clinical diagnosis.
dc.description.peerreviewedYes
dc.description.publicationstatusYes
dc.languageEnglish
dc.language.isoeng
dc.publisherJohn Wiley & Sons, Inc.
dc.publisher.placeHobroken, N.J.
dc.relation.ispartofstudentpublicationN
dc.relation.ispartofpagefrom167
dc.relation.ispartofpageto175
dc.relation.ispartofissue3
dc.relation.ispartofjournalHuman Mutation
dc.relation.ispartofvolume26
dc.rights.retentionY
dc.subject.fieldofresearchGenetics
dc.subject.fieldofresearchClinical sciences
dc.subject.fieldofresearchcode3105
dc.subject.fieldofresearchcode3202
dc.titlePEX1 mutations in the Zellweger spectrum of the peroxisome biogenesis disorders
dc.typeJournal article
dc.type.descriptionC1 - Articles
dc.type.codeC - Journal Articles
gro.facultyGriffith Sciences, School of Natural Sciences
gro.date.issued2005
gro.hasfulltextNo Full Text
gro.griffith.authorCrane, Denis I.
gro.griffith.authorMaxwell, Megan


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