Results 21 to 30 of about 1,161,477 (260)

Genome sequencing identifies a rare case of moderate Zellweger spectrum disorder caused by a PEX3 defect: Case report and literature review

Molecular Genetics and Metabolism Reports, 2020
Defects in PEX3 are associated with a severe neonatal-lethal form of Zellweger spectrum disorder. We report two moderately affected siblings whose clinical and biochemical phenotypes expand the reported spectrum of PEX3-related disease. Genome sequencing
Whiwon Lee, Gregory Costain, Susan Blaser, Susan Walker, Christian R. Marshall, Hernan Gonorazky, Michal Inbar-Feigenberg   +6 more
doaj   +1 more source

LC-MS Based Platform Simplifies Access to Metabolomics for Peroxisomal Disorders

Metabolites, 2021
Peroxisomes are central hubs for cell metabolism and their dysfunction is linked to devastating human disorders, such as peroxisomal biogenesis disorders and single peroxisomal enzyme/protein deficiencies.
Henry Gerd Klemp, Matthias Kettwig, Frank Streit, Jutta Gärtner, Hendrik Rosewich, Ralph Krätzner   +5 more
doaj   +1 more source

AAV-mediated PEX1 gene augmentation improves visual function in the PEX1-Gly844Asp mouse model for mild Zellweger spectrum disorder

Molecular Therapy: Methods & Clinical Development, 2021
Patients with Zellweger spectrum disorder (ZSD) commonly present with vision loss due to mutations in PEX genes required for peroxisome assembly and function.
Catherine Argyriou, Anna Polosa, Ji Yun Song, Samy Omri, Bradford Steele, Bruno Cécyre, Devin S. McDougald, Erminia Di Pietro, Jean-François Bouchard, Jean Bennett, Joseph G. Hacia, Pierre Lachapelle, Nancy E. Braverman   +12 more
doaj   +1 more source

Genomic organization, expression analysis, and chromosomal localization of the mouse PEX3 gene encoding a peroxisomal assembly protein [PDF]

, 2000
The peroxin Pex3p has been identified as an integral peroxisomal membrane protein in yeast where pex3 mutants lack peroxisomal remnant structures.
Muntau, Anja C., Muntau, AC, Mayerhofer, Peter U., Albet, Sabrina, Bugaut, Maurice, Bugaut, M, Mayerhofer, PU, Roscher, AA, Albet, S, Kammerer, S, Schmid, Thomas E., Roscher, Adelbert A., Kammerer, Stefan, Schmid, TE   +13 more
core   +1 more source

Cholbam® and Zellweger spectrum disorders: treatment implementation and management

Orphanet Journal of Rare Diseases, 2021
Background Zellweger spectrum disorders (ZSDs) are a rare, heterogenous group of autosomal recessively inherited disorders characterized by reduced peroxisomes numbers, impaired peroxisomal formation, and/or defective peroxisomal functioning.
Janaina Nogueira Anderson, Zineb Ammous, Yasemen Eroglu, Erick Hernandez, James Heubi, Ryan Himes, Sirish Palle   +6 more
doaj   +1 more source

Peroxisome Biogenesis Disorders

Translational Science of Rare Diseases, 2016
The peroxisome biogenesis disorders (PBD) are a heterogeneous group of autosomal recessive disorders in which peroxisome assembly is impaired, leading to deficiencies of peroxisomal enzymes, complex developmental sequelae and progressive disabilities.
Argyriou, Catherine, D’Agostino, Maria Daniela, Braverman, Nancy   +2 more
openaire   +3 more sources

A comparative study of peroxisomal structures in Hansenula polymorpha pex mutants [PDF]

, 2007
In a recent study, we performed a systematic genome analysis for the conservation of genes involved in peroxisome biogenesis (PEX genes) in various fungi.
Koek, Anne,, Veenhuis, Marten,, Komori, Masayuki,, Komori, Masayuki, Klei, Ida J. van der,, Koek, Anne, Veenhuis, Marten, van der Klei, Ida J.; id_orcid, van der Klei, Ida J.   +8 more
core   +2 more sources

Identification of an unusual variant peroxisome biogenesis disorder caused by mutations in the PEX16 gene [PDF]

, 2010
International audienceZellweger syndrome spectrum disorders are caused by mutations in any of at least 12 different genes. This includes , which encodes an integral peroxisomal membrane protein involved in peroxisomal membrane assembly.
Wanders, Ronald, Mooijer, Petra, Denis, Simone, Clayton, Peter, Ebberink, Merel, Sharp, Peter, Fietz, Michael, Waterham, Hans, Ferdinandusse, Sacha, Csanyi, Barbara, Dekker, Conny   +10 more
core   +4 more sources

PEX6 Mutation in a Child with Infantile Refsum Disease—A Case Report and Literature Review

Children, 2023
The aim of this paper is to describe the temporal progression and clinical picture of a 2-year-old child with infantile Refsum disease, as well as the diagnostic procedures performed; this case presented multiple hematologic, metabolic, and developmental
Ana-Maria Slanina, Adorata-Elena Coman, Dana-Teodora Anton-Păduraru, Elena Popa, Carmen-Liliana Barbacariu, Otilia Novac, Antoneta Dacia Petroaie, Agnes-Iacinta Bacușcă, Mihaela Manole, Adriana Cosmescu   +9 more
doaj   +1 more source

Pex13 inactivation in the mouse disrupts peroxisome biogenesis and leads to a Zellweger syndrome phenotype [PDF]

, 2002
Zellweger syndrome is the archetypical peroxisome biogenesis disorder and is characterized by defective import of proteins into the peroxisome, leading to peroxisomal metabolic dysfunction and widespread tissue pathology.
Kay, Graham F., Crane, Denis I., C. Paton, Barbara, Maxwell, M., Crane, D., Paterson, Carol, Kay, G., Bjorkman, J., Paterson, C., Nguyen, Tam, Sharp, P., Finnie, J., Nguyen, T., F. Kay, Graham, Paton, B., Maxwell, Megan, Tonks, I., Sharp, Peter, Crane, Denis, Paton, Barbara C., Bjorkman, Jonas, Finnie, John, Tonks, Ian   +22 more
core   +1 more source