Literature DB >> 26611709

Human disorders of peroxisome metabolism and biogenesis.

Hans R Waterham1, Sacha Ferdinandusse2, Ronald J A Wanders2.   

Abstract

Peroxisomes are dynamic organelles that play an essential role in a variety of cellular catabolic and anabolic metabolic pathways, including fatty acid alpha- and beta-oxidation, and plasmalogen and bile acid synthesis. Defects in genes encoding peroxisomal proteins can result in a large variety of peroxisomal disorders either affecting specific metabolic pathways, i.e., the single peroxisomal enzyme deficiencies, or causing a generalized defect in function and assembly of peroxisomes, i.e., peroxisome biogenesis disorders. In this review, we discuss the clinical, biochemical, and genetic aspects of all human peroxisomal disorders currently known.
Copyright © 2015 Elsevier B.V. All rights reserved.

Entities:  

Keywords:  Biogenesis; Enzyme deficiencies; Metabolism; PEX genes; Peroxisomes; Zellweger spectrum disorders

Mesh：

Substances：

Year:  2015        PMID： 26611709     DOI： 10.1016/j.bbamcr.2015.11.015

Source DB:  PubMed          Journal:  Biochim Biophys Acta        ISSN： 0006-3002


  111 in total

Review 1.  Antenatal manifestations of inborn errors of metabolism: biological diagnosis.

Authors:  Christine Vianey-Saban; Cécile Acquaviva; David Cheillan; Sophie Collardeau-Frachon; Laurent Guibaud; Cécile Pagan; Magali Pettazzoni; Monique Piraud; Antonin Lamazière; Roseline Froissart
Journal:  J Inherit Metab Dis       Date:  2016-07-08       Impact factor: 4.982

2.  Pejvakin-mediated pexophagy protects auditory hair cells against noise-induced damage.

Authors:  Jean Defourny; Alain Aghaie; Isabelle Perfettini; Paul Avan; Sedigheh Delmaghani; Christine Petit
Journal:  Proc Natl Acad Sci U S A       Date:  2019-04-01       Impact factor: 11.205

3.  Peroxisomal monoubiquitinated PEX5 interacts with the AAA ATPases PEX1 and PEX6 and is unfolded during its dislocation into the cytosol.

Authors:  Ana G Pedrosa; Tânia Francisco; Diana Bicho; Ana F Dias; Aurora Barros-Barbosa; Vera Hagmann; Gabriele Dodt; Tony A Rodrigues; Jorge E Azevedo
Journal:  J Biol Chem       Date:  2018-06-08       Impact factor: 5.157

4.  An integrative systems genetic analysis of mammalian lipid metabolism.

Authors:  Benjamin L Parker; Anna C Calkin; Marcus M Seldin; Michael F Keating; Elizabeth J Tarling; Pengyi Yang; Sarah C Moody; Yingying Liu; Eser J Zerenturk; Elise J Needham; Matthew L Miller; Bethan L Clifford; Pauline Morand; Matthew J Watt; Ruth C R Meex; Kang-Yu Peng; Richard Lee; Kaushala Jayawardana; Calvin Pan; Natalie A Mellett; Jacquelyn M Weir; Ross Lazarus; Aldons J Lusis; Peter J Meikle; David E James; Thomas Q de Aguiar Vallim; Brian G Drew
Journal:  Nature       Date:  2019-02-27       Impact factor: 49.962

Review 5.  Peroxisome biogenesis, membrane contact sites, and quality control.

Authors:  Jean-Claude Farré; Shanmuga S Mahalingam; Marco Proietto; Suresh Subramani
Journal:  EMBO Rep       Date:  2018-12-10       Impact factor: 8.807

6.  Towards the molecular architecture of the peroxisomal receptor docking complex.

Authors:  Pascal Lill; Tobias Hansen; Daniel Wendscheck; Bjoern Udo Klink; Tomasz Jeziorek; Dimitrios Vismpas; Jonas Miehling; Julian Bender; Andreas Schummer; Friedel Drepper; Wolfgang Girzalsky; Bettina Warscheid; Ralf Erdmann; Christos Gatsogiannis
Journal:  Proc Natl Acad Sci U S A       Date:  2020-12-15       Impact factor: 11.205

7.  Localization of Protein Kinase NDR2 to Peroxisomes and Its Role in Ciliogenesis.

Authors:  Shoko Abe; Tomoaki Nagai; Moe Masukawa; Kanji Okumoto; Yuta Homma; Yukio Fujiki; Kensaku Mizuno
Journal:  J Biol Chem       Date:  2017-01-25       Impact factor: 5.157

Review 8.  Antenatal manifestations of inborn errors of metabolism: prenatal imaging findings.

Authors:  Laurent Guibaud; Sophie Collardeau-Frachon; Audrey Lacalm; Mona Massoud; Massimiliano Rossi; Marie Pierre Cordier; Christine Vianey-Saban
Journal:  J Inherit Metab Dis       Date:  2016-11-16       Impact factor: 4.982

9.  Receptor recognition by the peroxisomal AAA complex depends on the presence of the ubiquitin moiety and is mediated by Pex1p.

Authors:  Daniel Schwerter; Immanuel Grimm; Wolfgang Girzalsky; Ralf Erdmann
Journal:  J Biol Chem       Date:  2018-08-10       Impact factor: 5.157

10.  Anesthesia in a child with suspected peroxisomal disorder.

Authors:  J S Englbrecht; M Maas
Journal:  Anaesthesist       Date:  2017-11-08       Impact factor: 1.041
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