Results 1 to 10 of about 9,582 (153)

Variant analysis of PEX11B gene from a family with peroxisome biogenesis disorder 14B by whole exome sequencing [PDF]

Molecular Genetics & Genomic Medicine, 2020
Background Peroxisome biogenesis disorder 14B (PBD14B) is an autosomal recessive peroxisome biogenesis disorder characterized clinically by mild intellectual disability, congenital cataracts, progressive hearing loss, and polyneuropathy peroxisome ...
Yuan Tian, Linlin Zhang, Ying Li, Jinshuang Gao, Haiyang Yu, Yaqing Guo, Liting Jia   +6 more
doaj   +3 more sources

Early hypotonia and visual regression as presenting features of peroxisome biogenesis disorder: an Egyptian case report [PDF]

BMC Pediatrics
Introduction Peroxisome biogenesis disorders (PBDs) are rare autosomal recessive neurodegenerative diseases caused by variants in Peroxin (PEX) genes, leading to defective peroxisome assembly and multisystem dysfunction.
Abdelrahim A. Sadek, Mohammed A. Aladawy, Khaled Hassan, Tarek M. M. Mansour, Mohamed Naser, Mohamed M. Elmoursy, Sohieb Hedewy, Ahmed Hagag, Kawashty Ragab Mohamed, Elsayed Abdelkreem   +9 more
doaj   +2 more sources

Autophagy Inhibitors Do Not Restore Peroxisomal Functions in Cells With the Most Common Peroxisome Biogenesis Defect

Frontiers in Cell and Developmental Biology, 2021
Peroxisome biogenesis disorders within the Zellweger spectrum (PBD-ZSDs) are most frequently associated with the c.2528G>A (p.G843D) mutation in the PEX1 gene (PEX1-G843D), which results in impaired import of peroxisomal matrix proteins and ...
Femke C. C. Klouwer, Femke C. C. Klouwer, Kim D. Falkenberg, Rob Ofman, Janet Koster, Démi van Gent, Sacha Ferdinandusse, Ronald J. A. Wanders, Hans R. Waterham   +8 more
doaj   +3 more sources

Peroxisome biogenesis and peroxisome biogenesis disorders

FEBS Letters, 2000
Peroxisome assembly in mammals requires more than 15 genes. Two isoforms of the peroxisome targeting signal type 1 (PTS1) receptor, Pex5pS and Pex5pL, are identified in mammals. Pex5pS and Pex5pL bind PTS1 proteins. Pex5pL, but not Pex5pS, directly interacts with the PTS2 receptor, Pex7p, carrying its cargo PTS2 protein in the cytosol.
Yukio Fujiki
exaly   +4 more sources

Genetic analysis of the X-linked adrenoleukodystrophy gene ABCD1 in Drosophila uncovers a conserved phenotype [PDF]

Communications Biology
X-linked adrenoleukodystrophy (X-ALD) is a progressive neurodegenerative disorder caused by a loss-of-function (LOF) mutation in the ATP-binding cassette subfamily D member 1 (ABCD1) gene, leading to the accumulation of very long-chain fatty acids ...
Joshua Manor, Sharayu V. Jangam, Hyung-lok Chung, Pranjali Bhagwat, Jonathan C. Andrews, Hillary Chester, Shu Kondo, Saurabh Srivastav, Juan Botas, Ann B. Moser, Suzette M. Huguenin, Michael F. Wangler   +11 more
doaj   +2 more sources

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 Pediatrics
Background 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, Yingbo Tao, Lian Zhang, Jun Luo   +3 more
doaj   +2 more sources

Peroxisomes as emerging clinical targets in neuroinflammatory diseases [PDF]

Frontiers in Molecular Neuroscience
Peroxisomes are membrane-bounded organelles that contribute to a range of physiological functions in eukaryotic cells. In the central nervous system (CNS), peroxisomes are implicated in several vital homeostatic functions including, but not limited to ...
Andrej Roczkowsky, Richard A. Rachubinski, Tom C. Hobman, Tom C. Hobman, Christopher Power, Christopher Power   +5 more
doaj   +2 more sources

Detection of a Novel Homozygous PEX5 Stop-Loss Variant Associated with Zellweger Syndrome in a Highly Endogamic Family [PDF]

The Application of Clinical Genetics
Ingrid Tatyana Bernal-Bonilla,1 Juan Sebastian Arias-Florez,1 Sandra Ximena Ramirez,2 Bibiana Alejandra Bayona-Gomez,3 Lina Castro-Castillo,3 Valeria Correa-Martinez,4 Yasmín Sanchez-Gomez,5 Natalia Santiago-Tovar,6 Cristian Camilo Gaviria-Sabogal,6 Nora
Bernal-Bonilla IT, Arias-Florez JS, Ramirez SX, Bayona-Gomez BA, Castro-Castillo L, Correa-Martinez V, Sanchez-Gomez Y, Santiago-Tovar N, Gaviria-Sabogal CC, Contreras Bravo NC, Cabrera R, Morel A, Fonseca-Mendoza DJ, Restrepo CM   +13 more
doaj   +2 more sources

Novel PEX11B Mutations Extend the Peroxisome Biogenesis Disorder 14B Phenotypic Spectrum and Underscore Congenital Cataract as an Early Feature [PDF]

Invest Ophthalmol Vis Sci, 2017
Mark Handley, Graeme Black, Rachel L Taylor   +2 more
exaly   +2 more sources

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