Mutations in Novel Peroxin Gene PEX26 That Cause Peroxisome-Biogenesis Disorders of Complementation Group 8 Provide a Genotype-Phenotype Correlation-Reference-Cited by-同舟云学术

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Mutations in Novel Peroxin Gene PEX26 That Cause Peroxisome-Biogenesis Disorders of Complementation Group 8 Provide a Genotype-Phenotype Correlation

Published:2003-08 Issue:2 Volume:73 Page:233-246
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Matsumoto Naomi,Tamura Shigehiko,Furuki Satomi,Miyata Non,Moser Ann,Shimozawa Nobuyuki,Moser Hugo W.,Suzuki Yasuyuki,Kondo Naomi,Fujiki Yukio

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics

Reference28 articles.

1. Human PEX7 encodes the peroxisomal PTS2 receptor and is responsible for rhizomelic chondrodysplasia punctata;Braverman;Nat Genet,1997

2. Mutations in the PTS1 receptor gene, PXR1, define complementation group 2 of the peroxisome biogenesis disorders;Dodt;Nat Genet,1995

3. Peroxisome biogenesis and peroxisome biogenesis disorders;Fujiki;FEBS Lett,2000

4. PEX3 is the causal gene responsible for peroxisome membrane assembly–defective Zellweger syndrome of complementation group G;Ghaedi;Am J Hum Genet,2000

5. Newly identified Chinese hamster ovary cell mutants defective in peroxisome assembly represent complementation group A of human peroxisome biogenesis disorders and one novel group in mammals;Ghaedi;Exp Cell Res,1999

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1. Biallelic Deletion of <i>PEX26</i> Exon 4 in a Boy with Phenotypic Features of both Zellweger Syndrome and Infantile Refsum Disease;Molecular Syndromology;2024-04-30

2. Identification of a novel heterozygous variant in the PEX26 gene in an infant: a case report;Translational Pediatrics;2024-01

3. Comparison of human PEX knockout cell lines suggests a dual role of PEX1 in peroxisome biogenesis;Biological Chemistry;2022-12-19

4. Insights into the Structure and Function of the Pex1/Pex6 AAA-ATPase in Peroxisome Homeostasis;Cells;2022-06-29

5. Genome-Wide Association Study Candidate Genes on Mammary System-Related Teat-Shape Conformation Traits in Chinese Holstein Cattle;Genes;2021-12-19

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