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PEX1 gene

Known as: peroxisomal biogenesis factor 1, PEX1, PEROXIN 1 
National Institutes of Health

Related topics

Related topics

1 relation
PEX5L gene

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2020
2020
The Peroxisomal PTS1-Import Defect of PEX1- Deficient Cells Is Independent of Pexophagy in Saccharomyces cerevisiae
The important physiologic role of peroxisomes is shown by the occurrence of peroxisomal biogenesis disorders (PBDs) in humans… 
2017
2017
Exome sequencing reveals novel genetic loci influencing obesity related traits in Hispanic children
To perform whole exome sequencing in 928 Hispanic children and identify variants and genes associated with childhood obesity. 
Highly Cited
2016
Highly Cited
2016
Spectrum of PEX1 and PEX6 variants in Heimler syndrome
Heimler syndrome (HS) consists of recessively inherited sensorineural hearing loss, amelogenesis imperfecta (AI) and nail… 
2015
2015
Reevaluation of the role of Pex1 and dynamin-related proteins in peroxisome membrane biogenesis
Analysis of Pex1 and dynamin-related protein function indicates peroxisomes multiply mainly by growth and division in… 
Highly Cited
2015
Highly Cited
2015
The Pex1/Pex6 complex is a heterohexameric AAA+ motor with alternating and highly coordinated subunits.
2014
2014
Decreased expression and DNA methylation levels of GATAD1 in preeclamptic placentas.
Highly Cited
2002
Highly Cited
2002
The TRIM37 gene encodes a peroxisomal RING-B-box-coiled-coil protein: classification of mulibrey nanism as a new peroxisomal disorder.
Mulibrey nanism is a rare growth disorder of prenatal onset caused by mutations in the TRIM37 gene, which encodes a RING-B-box… 
Highly Cited
1998
Highly Cited
1998
Temperature-sensitive mutation in PEX1 moderates the phenotypes of peroxisome deficiency disorders.
The peroxisome biogenesis disorders (PBDs), including Zellweger syndrome (ZS), neonatal adrenoleukodystrophy (NALD) and infantile… 
Highly Cited
1997
Highly Cited
1997
Human PEX1 is mutated in complementation group 1 of the peroxisome biogenesis disorders
Human peroxisome biogenesis disorders (PBDs) are a group of genetically heterogeneous autosomal-recessive diseases caused by… 
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