title: Molecular and neurologic findings of peroxisome biogenesis disorders.
abstract: Peroxisomal disorders, an expanding group of genetic disorders in humans, can be grouped into three categories: peroxisome biogenesis disorders, single peroxisomal enzyme deficiencies, and contiguous gene syndrome. At present, 13 complementation groups of peroxisome biogenesis disorders and their responsible genes have been identified, including our newly identified group with a PEX14 defect. We describe neuronal abnormalities related to deficiencies in peroxisomes and the phenotype-genotype relationship in peroxisome biogenesis disorders. We also identified 32 Japanese patients with peroxisome biogenesis disorders, subdivided into six complementation groups. Our institution acts as the only diagnostic center for studies on peroxisomal disorders in Japan.
authors.affiliation: Division of Genomics Research, Life Science Research Center, Gifu University, Gifu, Japan. nshim@cc.gifu-u.ac.jp
authors.forename: Nobuyuki
authors.initials: N
authors.lastname: Shimozawa
authors.forename: Tomoko
authors.initials: T
authors.lastname: Nagase
authors.forename: Yasuhiko
authors.initials: Y
authors.lastname: Takemoto
authors.forename: Michinori
authors.initials: M
authors.lastname: Funato
authors.forename: Naomi
authors.initials: N
authors.lastname: Kondo
authors.forename: Yasuyuki
authors.initials: Y
authors.lastname: Suzuki
mesh_terms: D044466:Asian People / Q000235:genetics; D018740:Genetic Heterogeneity; D005838:Genotype; D006801:Humans; D009154:Mutation / Q000235:genetics; D053402:PHEX Phosphate Regulating Neutral Endopeptidase; D018901:Peroxisomal Disorders / Q000150:complications* / Q000235:genetics*; D010641:Phenotype; D011506:Proteins / Q000235:genetics
chemical_list: D011506:Proteins; D053402:PHEX Phosphate Regulating Neutral Endopeptidase; C506231:PHEX protein, human