Characterization of two common 5' polymorphisms in
BMC Medical Genetics, 2011 Background Mutations in PEX1 are the most common primary cause of Zellweger syndrome. In addition to exonic mutations, deletions and splice site mutations two 5' polymorphisms at c.-137 and c.-53 with a potential influence on PEX1 protein levels have ...
Thoms Sven +5 more
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Spectrum of genetic alterations in patients with peroxisome biogenesis defects in the Iranian population: a case series study [PDF]
BMC Medical GenomicsPeroxisomal disorders are a group of hereditary metabolic disorders that happen when peroxisomes are defective. Around 80% of individuals affected by peroxisomal disorders are classified within the spectrum of Zellweger syndromes with autosomal recessive
Sheyda Khalilian +6 more
doaj +2 more sources
Zellweger syndrome; identification of mutations in PEX19 and PEX26 gene in Saudi families [PDF]
Annals of MedicineBackground Peroxisome biogenesis disorders (PBD) affect multiple organ systems. It is characterized by neurological dysfunction, hypotonia, ocular anomalies, craniofacial abnormalities, and absence of peroxisomes in fibroblasts.
Abdulfatah M. Alayoubi +5 more
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Identification of a new frameshift homozygous variant of PEX3 gene in a preterm infant with profound global developmental delay and bilateral ptosis: a case report and updated literature review [PDF]
BMC PediatricsBackground Loss-of-function mutations in PEX3 have been associated with Zellweger syndrome (ZS), a severe form of peroxisome biogenesis disorder (PBD) characterized by significant global developmental delay, muscle weakness with bilateral ptosis ...
Jinfeng Su +3 more
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Neonate with classic Zellweger syndrome. [PDF]
Int J Pediatr Adolesc Med, 2019 Kashgari A.
europepmc +3 more sources
Drosophila carrying pex3 or pex16 mutations are models of Zellweger syndrome that reflect its symptoms associated with the absence of peroxisomes. [PDF]
PLoS ONE, 2011 The peroxisome biogenesis disorders (PBDs) are currently difficult-to-treat multiple-organ dysfunction disorders that result from the defective biogenesis of peroxisomes. Genes encoding Peroxins, which are required for peroxisome biogenesis or functions,
Minoru Nakayama +9 more
doaj +1 more source
Perioperative care of a child with Zellweger syndrome. [PDF]
Pediatric Anesthesia and Critical Care Journal (PACCJ), 2022 Zellweger syndrome (ZS) is an autosomal recessive dis- order characterized by defects in the structure, function, or number of peroxisomes, which are essential for the β- oxidation of very-long-chain fatty acids. Disordered pe- roxisome function leads to
A. Gibbs, J. D. Tobias
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The Hansenula polymorpha PER8 Gene Encodes a Novel Peroxisomal Integral Membrane Protein Involved in Proliferation [PDF]
, 1995 We previously described the isolation of mutants of the methylotrophic yeast Hansenula polymorpha that are defective in peroxisome biogenesis. Here, we describe the characterization of one of these mutants, per8, and the cloning of the PER8 gene.
Cregg, James M., +3 more
core +7 more sources
Successful Treatment of Severe Hepatopulmonary Syndrome as a Rare Complication of Zellweger Spectrum Disorder. [PDF]
JIMD RepABSTRACT We report the case of an 11‐year‐old girl who developed hepatopulmonary syndrome (HPS) as a rare complication of Zellweger spectrum disorder and was successfully treated with liver transplantation. Our patient presented with neonatal sensorineural hearing loss.
Tharakan RM, Rajwal S, Schwahn BC.
europepmc +2 more sources
Failure of microtubule-mediated peroxisome division and trafficking in disorders with reduced peroxisome abundance [PDF]
, 2006 In contrast to peroxisomes in normal cells, remnant peroxisomes in cultured skin fibroblasts from a subset of the clinically severe peroxisomal disorders that includes the biogenesis disorder Zellweger syndrome and the single-enzyme defect D-bifunctional
Bjorkman, Jonas +3 more
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