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Literature DB >> 9585609

Temperature-sensitive phenotypes of peroxisome-assembly processes represent the milder forms of human peroxisome-biogenesis disorders.

A Imamura, T Tsukamoto, N Shimozawa, Y Suzuki, Z Zhang, T Imanaka, Y Fujiki, T Orii, N Kondo, T Osumi.

Abstract

Entities: Mutation Species

Mesh：

Year: 1998 PMID： 9585609 PMCID： PMC1377160 DOI： 10.1086/301881

Source DB: PubMed Journal: Am J Hum Genet ISSN： 0002-9297 Impact factor: 11.025

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9 in total

1. Phenotype-genotype relationships in peroxisome biogenesis disorders of PEX1-defective complementation group 1 are defined by Pex1p-Pex6p interaction.

Authors: S Tamura; N Matsumoto; A Imamura; N Shimozawa; Y Suzuki; N Kondo; Y Fujiki
Journal: Biochem J Date: 2001-07-15 Impact factor: 3.857

Review 2. Clinical, biochemical and genetic aspects and neuronal migration in peroxisome biogenesis disorders.

Authors: Y Suzuki; N Shimozawa; A Imamura; S Fukuda; Z Zhang; T Orii; N Kondo
Journal: J Inherit Metab Dis Date: 2001-04 Impact factor: 4.982

3. The PEX1 ATPase Stabilizes PEX6 and Plays Essential Roles in Peroxisome Biology.

Authors: Mauro A Rinaldi; Wendell A Fleming; Kim L Gonzalez; Jaeseok Park; Meredith J Ventura; Ashish B Patel; Bonnie Bartel
Journal: Plant Physiol Date: 2017-06-09 Impact factor: 8.340

4. Disorders of peroxisome biogenesis due to mutations in PEX1: phenotypes and PEX1 protein levels.

Authors: C Walter; J Gootjes; P A Mooijer; H Portsteffen; C Klein; H R Waterham; P G Barth; J T Epplen; W H Kunau; R J Wanders; G Dodt
Journal: Am J Hum Genet Date: 2001-06-01 Impact factor: 11.025

5. A PEX6-defective peroxisomal biogenesis disorder with severe phenotype in an infant, versus mild phenotype resembling Usher syndrome in the affected parents.

Authors: Annick Raas-Rothschild; Ronald J A Wanders; Petra A W Mooijer; Jeannette Gootjes; Hans R Waterham; Alisa Gutman; Yasuyuki Suzuki; Nobuyuki Shimozawa; Naomi Kondo; Gideon Eshel; Marc Espeel; Frank Roels; Stanley H Korman
Journal: Am J Hum Genet Date: 2002-02-28 Impact factor: 11.025

6. Mutations in novel peroxin gene PEX26 that cause peroxisome-biogenesis disorders of complementation group 8 provide a genotype-phenotype correlation.

Authors: Naomi Matsumoto; Shigehiko Tamura; Satomi Furuki; Non Miyata; Ann Moser; Nobuyuki Shimozawa; Hugo W Moser; Yasuyuki Suzuki; Naomi Kondo; Yukio Fujiki
Journal: Am J Hum Genet Date: 2003-07-08 Impact factor: 11.025