Contact and support
Need help, have a question, or want to contact the ResearchHub team?
© 2026 ResearchHub. Built for responsible scholarly connection.
Privacy-aware community infrastructureResearch graph
References from PEX6 Mutations in Peroxisomal Biogenesis Disorders. Local targets link to admitted publications; unresolved targets remain external evidence.
Recent insights into peroxisome biogenesis and associated diseases
10.1242/jcs.236943 · 2020 · External reference
Mild form of Zellweger spectrum disorders (ZSD) due to variants in PEX1: detailed clinical investigation in a 9-years-old female
2020 · External reference
Diagnosis of a mild peroxisomal phenotype with next-generation sequencing
2016 · External reference
Peroxisome biogenesis: something old, something new, something borrowed
2010 · External reference
Peroxisome-mediated metabolism is required for immune response to microbial infection
10.1016/j.immuni.2017.06.016 · 2017 · External reference
Clinical and neuroimaging spectrum of peroxisomal disorders
10.1097/rmr.0000000000000172 · 2018 · External reference
A founder mutation in the PEX6 gene is responsible for increased incidence of Zellweger syndrome in a French Canadian population
10.1186/1471-2350-13-72 · 2012 · External reference
The peroxisomal AAA ATPase complex prevents pexophagy and development of peroxisome biogenesis disorders
10.1080/15548627.2017.1291470 · 2017 · External reference
The PEX Gene Screen: molecular diagnosis of peroxisome biogenesis disorders in the Zellweger syndrome spectrum
10.1016/j.ymgme.2004.08.008 · 2004 · External reference
ACMG Laboratory Quality Assurance Committee. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology
10.1038/gim.2015.30 · 2015 · External reference
The biogenesis protein PEX14 is an optimal marker for the identification and localization of peroxisomes in different cell types, tissues, and species in morphological studies
10.1007/s00418-013-1133-6 · 2013 · External reference
Mechanistic insights into PTS2-mediated peroxisomal protein import: the co-receptor PEX5L drastically increases the interaction strength between the cargo protein and the receptor PEX7
10.1074/jbc.m114.601575 · 2015 · External reference
A mechanistic perspective on PEX1 and PEX6, two AAA+ proteins of the peroxisomal protein import machinery
10.3390/ijms20215246 · 2019 · External reference
The peroxisomal disorder spectrum and Heimler syndrome: deep phenotyping and review of the literature
10.1002/ajmg.c.31823 · 2020 · External reference
Novel peroxisomal protease Tysnd1 processes PTS1- and PTS2-containing enzymes involved in beta-oxidation of fatty acids
10.1038/sj.emboj.7601525 · 2007 · External reference
Arginine improves peroxisome functioning in cells from patients with a mild peroxisome biogenesis disorder
10.1186/1750-1172-8-138 · 2013 · External reference
Heimler syndrome is caused by hypomorphic mutations in the peroxisome-biogenesis genes PEX1 and PEX6
10.1016/j.ajhg.2015.08.011 · 2015 · External reference
Effect of 1-arginine in one patient with peroxisome biogenesis disorder due to PEX12 deficiency
10.1055/s-0036-1578798 · 2016 · External reference
A newly identified mutation in the PEX26 gene is associated with a milder form of Zellweger spectrum disorder
10.1101/mcs.a003483 · 2019 · External reference
Late-onset Zellweger spectrum disorder caused by PEX6 mutations mimicking X-linked adrenoleukodystrophy
10.1016/j.pediatrneurol.2014.03.020 · 2014 · External reference
Novel PEX1 coding mutations and 5’ UTR regulatory polymorphisms
10.1002/humu.9356 · 2005 · External reference
Zellweger spectrum disorder. December 12, 2003 (updated December 21, 2017).
1993 · External reference
Unresolved reference
External reference
Human induced pluripotent stem-derived retinal pigment epithelium (RPE) cells exhibit ion transport, membrane potential, polarized vascular endothelial growth factor secretion, and gene expression pattern similar to native RPE
10.1002/stem.635 · 2011 · External reference
Carrier frequency estimation of Zellweger spectrum disorder using ExAC database and bioinformatics tools
10.1038/s41436-019-0468-3 · 2019 · External reference
A PEX6-defective peroxisomal biogenesis disorder with severe phenotype in an infant, versus mild phenotype resembling Usher syndrome in the affected parents
10.1086/339766 · 2002 · External reference
