A missense allele of PEX5 is responsible for the defective import of PTS2 cargo proteins into peroxisomes-Reference-Cited by-同舟云学术

A missense allele of PEX5 is responsible for the defective import of PTS2 cargo proteins into peroxisomes

Published:2021-01-02 Issue:4 Volume:140 Page:649-666
ISSN:0340-6717
Container-title:Human Genetics
language:en
Short-container-title:Hum Genet

Author:

Ali Muhammad,Khan Shahid Y.,Rodrigues Tony A.,Francisco Tânia,Jiao Xiaodong,Qi Hang,Kabir Firoz,Irum Bushra,Rauf Bushra,Khan Asma A.,Mehmood Azra,Naeem Muhammad Asif,Assir Muhammad Zaman,Ali Muhammad Hassaan,Shahzad Mohsin,Abu-Amero Khaled K.,Akram Shehla Javed,Akram Javed,Riazuddin Sheikh,Riazuddin Saima,Robinson Michael L.,Baes Myriam,Azevedo Jorge E.,Hejtmancik J. Fielding,Riazuddin S. Amer

Funder

National Eye Institute

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://link.springer.com/content/pdf/10.1007/s00439-020-02238-z.pdf

Reference60 articles.

1. Alencastre IS, Rodrigues TA, Grou CP, Fransen M, Sa-Miranda C, Azevedo JE (2009) Mapping the cargo protein membrane translocation step into the PEX5 cycling pathway. J Biol Chem 284:27243–27251

2. Baes M, Dewerchin M, Janssen A, Collen D, Carmeliet P (2002) Generation of Pex5-loxP mice allowing the conditional elimination of peroxisomes. Genesis 32:177–178

3. Baroy T, Koster J, Stromme P, Ebberink MS, Misceo D, Ferdinandusse S, Holmgren A, Hughes T, Merckoll E, Westvik J, Woldseth B, Walter J, Wood N, Tvedt B, Stadskleiv K, Wanders RJ, Waterham HR, Frengen E (2015) A novel type of rhizomelic chondrodysplasia punctata, RCDP5, is caused by loss of the PEX5 long isoform. Hum Mol Genet 24:5845–5854