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TranscriptomicsA Drosophila model for the Zellweger spectrum of peroxisome biogenesis disorders
Human peroxisome biogenesis disorders are lethal genetic disease in which abnormal peroxisome assembly compromises overall peroxisome and cellular function. Peroxisomes are ubiquitous membrane-bound organelles involved in several important biochemical processes, notably lipid metabolism and the use ...
ORGANISM(S): Drosophila melanogaster 
2011-07-02 | E-GEOD-30362 | biostudies-arrayexpress
TranscriptomicsRetinas from the Pex1-G844D mouse model of Zellweger spectrum disorder
Gene expression analysis of retinas from a mouse model of the mild form of Zellweger spectrum disorder (ZSD). Mice homozygous for the hypomorphic Pex1-G844D allele, the murine ortholog of the human PEX1-G843D mutation found in a subset of patients with autosomal recessive ZSD, develop phenotypes f...
ORGANISM(S): Mus musculus 
2013-12-15 | E-GEOD-52348 | biostudies-arrayexpress
ProteomicsThe biochemical basis of mitochondrial dysfunctionin Zellweger Spectrum Disorder
Peroxisomal Biogenesis Disorders (PBDs) are genetic disorders of peroxisome biogenesis and metabolism that are characterized by profound developmental and neurological phenotypes. The most severe class of PBDs—Zellweger Spectrum Disorder(ZSD)—is caused by mutations in peroxin genes that result in b...
ORGANISM(S): Saccharomyces cerevisiae (Baker's yeast) 
2021-05-10 | PXD025595 | Pride
Zellweger spectrum disorder Mitochondria Peroxisomal biogenesis disorders Lc-ms/ms 
TranscriptomicsDNA methylation profiles of fibroblasts and induced pluripotent stem cells (iPSCs) from individuals with Zellweger spectrum disorder (ZSD), a class of peroxisome biogenesis disorder, and healthy controls
Zellweger spectrum disorder (PBD-ZSD) is a disease continuum caused by mutations in a subset of PEX genes required for normal peroxisome assembly and function. Their clinical manifestations highlight the importance of peroxisomes in the development and functions of the central nervous system, liver,...
ORGANISM(S): Homo sapiens 
2015-05-19 | E-GEOD-68134 | biostudies-arrayexpress
GenomicsThe biochemical basis of mitochondrial dysfunction in Zellweger Spectrum Disorder
The biochemical basis of mitochondrial dysfunction in Zellweger Spectrum Disorder
PRJNA670703 | ENA
ProteomicsThe biochemical basis of mitochondrial dysfunction in Zellweger Spectrum Disorder
We identified that peroxins were still expressed in Zellweger Spectrum Disorder (ZSD) and a subset of them accumulated on the mitochondrial membrane, which resulted in gross mitochondrial abnormalities and impaired mitochondrial metabolic function. In this complexome analysis we detected several per...
ORGANISM(S): Saccharomyces cerevisiae (Baker's yeast) 
2021-06-25 | PXD024625 | Pride
Peroxisomes Mitocondrial quality control Mitochondria Peroxisomal biogenesis disorder Peroxisomal import Lc-msms Complexome profiling 
GenomicsPex1-G844D NMRI mouse model of mild Zellweger spectrum disorder: liver gene expression profiles
Pex1-G844D NMRI mouse model of mild Zellweger spectrum disorder: liver gene expression profiles
PRJNA607508 | ENA
TranscriptomicsRetinas from the Pex1-G844D mouse model of Zellweger spectrum disorder
Gene expression analysis of retinas from a mouse model of the mild form of Zellweger spectrum disorder (ZSD). Mice homozygous for the hypomorphic Pex1-G844D allele, the murine ortholog of the human PEX1-G843D mutation found in a subset of patients with autosomal recessive ZSD, develop phenotypes fou...
ORGANISM(S): Mus musculus 
2013-12-15 | GSE52348 | GEO
TranscriptomicsThe biochemical basis of mitochondrial dysfunction in Zellweger Spectrum Disorder 
Peroxisomal Biogenesis Disorders (PBDs) are genetic disorders of peroxisome biogenesis and metabolism that are characterized by profound developmental and neurological phenotypes. The most severe class of PBDs—Zellweger Spectrum Disorder (ZSD)—is caused by mutations in peroxin genes that result in b...
ORGANISM(S): Saccharomyces cerevisiae 
2021-06-13 | GSE159869 | GEO
TranscriptomicsGene expression profiles of fibroblasts and induced pluripotent stem cells (iPSCs) from individuals with Zellweger spectrum disorder (ZSD), a class of peroxisome biogenesis disorder, and healthy controls
Zellweger spectrum disorder (PBD-ZSD) is a disease continuum caused by mutations in a subset of PEX genes required for normal peroxisome assembly and function. Their clinical manifestations highlight the importance of peroxisomes in the development and functions of the central nervous system, liver,...
ORGANISM(S): Homo sapiens 
2015-03-24 | GSE43996 | GEO
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