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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
GenomicsZellweger Syndrome
Primitive humoral immunodeficiency in Zellweger Syndrome identified by newborn screening: a case report
PRJEB46602 | ENA
ProteomicsDysregulated lipid metabolism and hypomyelination in postnatal peroxisome-deficient Pex2 knockout Zellweger mice
In the project “Dysregulated lipid metabolism and hypomyelination in postnatal peroxisome-deficient Pex2 knockout Zellweger mice” label-free mass spectrometry proteomics was used to study the proteome in different regions of the central nervous system of wild-type and peroxisome-deficient Pex2 knock...
ORGANISM(S): Mus musculus (Mouse) 
2026-01-28 | PXD063585 | Pride
Peroxisomes Brain Pex2 knockout mouse Cerebral cortex Cholesterol Cerebellum Cns Myelination Brainstem Zellweger syndrome Spinal cord Lc-ms/ms 
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
UnknownZellweger syndrome with severe malnutrition, immunocompromised state and opportunistic infections.
Not available
S-EPMC4840729 | biostudies-literature
UnknownInsufficiency of ciliary cholesterol in hereditary Zellweger syndrome.
Not available
S-EPMC7298307 | biostudies-literature
UnknownIdentification of a novel PEX14 mutation in Zellweger syndrome.
Not available
S-EPMC3027610 | biostudies-literature
UnknownMultivariate analysis and model building for classifying patients in the peroxisomal disorders X-linked adrenoleukodystrophy and Zellweger syndrome in Chinese pediatric patients.
Not available
S-EPMC10186734 | biostudies-literature
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
UnknownDefective peroxisome membrane synthesis due to mutations in human PEX3 causes Zellweger syndrome, complementation group G.
Not available
S-EPMC1287898 | biostudies-literature
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