A novel PEX1 mutation in a Moroccan family with Zellweger spectrum disorders-Reference-Cited by-同舟云学术

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A novel PEX1 mutation in a Moroccan family with Zellweger spectrum disorders

Published:2017-04-13 Issue:1 Volume:4 Page:
ISSN:2054-345X
Container-title:Human Genome Variation
language:en
Short-container-title:Hum Genome Var

Author:

Bousfiha Amale,Bakhchane Amina,Charoute Hicham,Riahi Zied,Snoussi Khalid,Rouba Hassan,Bonnet Crystel,Petit Christine,Barakat Abdelhamid

Publisher

Springer Science and Business Media LLC

Subject

Genetics,Molecular Biology,Biochemistry

Link

http://www.nature.com/articles/hgv20179.pdf

Reference21 articles.

1. Portsteffen H, Beyer A, Becker E, Epplen C, Pawlak A, Kunau WH et al. Human PEX1 is mutated in complementation group 1 of the peroxisome biogenesis disorders. Nat Genet 1997; 17: 449–452.

2. Reuber BE, Germain-Lee E, Collins CS, Morrell JC, Ameritunga R, Moser HW et al. Mutations in PEX1 are the most common cause of peroxisome biogenesis disorders. Nat Genet 1997; 17: 445–448.

3. Blok NB, Tan D, Wang RY-R, Penczek PA, Baker D, DiMaio F et al. Unique double-ring structure of the peroxisomal Pex1/Pex6 ATPase complex revealed by cryo-electron microscopy. Proc Natl Acad Sci USA 2015; 112: E4017–E4025.

4. Tamura S, Matsumoto N, Takeba R, Fujiki Y . AAA peroxins and their recruiter Pex26p modulate the interactions of peroxins involved in peroxisomal protein import. J Biol Chem 2014; 289: 24336–24346.

5. Wanders RJA, Waterham HR . Biochemistry of mammalian peroxisomes revisited. Annu Rev Biochem 2006; 75: 295–332.

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