Results 11 to 20 of about 1,135,071 (192)

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

Acute Late-Onset Cirrhosis in Zellweger Spectrum Disorder

Case Reports in Gastroenterology, 2023
Zellweger spectrum disorders (ZSDs) are known to present with variable hepatic manifestations ranging from benign hepatosplenomegaly and elevated liver enzymes to advanced liver cirrhosis with hepatocellular carcinoma.
Mark Hsu, Amith Subhash
doaj   +1 more source

Saudi patient with peroxisome biogenesis disorder with novel variant: a case report

Journal of Biochemical and Clinical Genetics, 2021
Background: Peroxisomes are cells' organelles that responsible for the metabolism of branched-chain and very-long-chain fatty acids (VLCFA), polyamines, and amino acids.
Ahmed Awad AbuAlreesh, Rayah Mohamed Asiri, Abeer Awad AbuAlreesh, Zuhair Rahbeeni   +3 more
doaj   +1 more source

Ophthalmic Diagnosis and Novel Management of Infantile Refsum Disease with Combination Docosahexaenoic Acid and Cholic Acid

Case Reports in Ophthalmological Medicine, 2021
Infantile Refsum disease is a rare peroxisomal biogenesis disorder characterized by impaired alpha-oxidation and accumulation of phytanic acid in the tissues. Patients often present with fundus changes resembling retinitis pigmentosa, developmental delay,
Omar Elghawy, Alice Y. Zhang, Ryan Duong, William G. Wilson, Eugene Y. Shildkrot   +4 more
doaj   +1 more source

A homozygous mutation in PEX16 identified by whole-exome sequencing ending a diagnostic odyssey

Molecular Genetics and Metabolism Reports, 2015
We present a patient with a unique neurological phenotype with a progressive neurodegenerative. An 18-year diagnostic odyssey for the patient ended when exome sequencing identified a homozygous PEX16 mutation suggesting an atypical peroxisomal biogenesis
Carlos A. Bacino, Yu-Hsin Chao, Elaine Seto, Tim Lotze, Fan Xia, Richard O. Jones, Ann Moser, Michael F. Wangler   +7 more
doaj   +1 more source

Pmp27 Promotes Peroxisomal Proliferation [PDF]

, 1995
Peroxisomes perform many essential functions in eukaryotic cells. The weight of evidence indicates that these organelles divide by budding from preexisting peroxisomes. This process is not understood at the molecular level.
J M Goodman, Lark, Richard H.,, Krimkevich,, Y. I., Y I Krimkevich, J M Dyer, P A Marshall, Goodman, J. M., M Veenhuis, Krimkevich, Yelena I.,, Veenhuis, Marten,, Dyer, J. M., Veenhuis, M., Marshall, Pamela A.,, Goodman, Joel M.,, Lark, R. H., Dyer, John M.,, Marshall, P. A., R H Lark   +17 more
core   +2 more sources

Autosomal recessive cerebellar ataxia caused by mutations in the PEX2 gene

Orphanet Journal of Rare Diseases, 2011
Objective To expand the spectrum of genetic causes of autosomal recessive cerebellar ataxia (ARCA). Case report Two brothers are described who developed progressive cerebellar ataxia at 3 1/2 and 18 years, respectively.
Wanders Ronald J, Waterham Hans R, Ferdinandusse Sacha, Sevin Caroline, Aubourg Patrick   +4 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

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