(2023). Peroxisome Biogenesis Disorder (PBD): Types 1-14, A (Zellweger) and B. In: Rezaei, N. (eds) Genetic Syndromes. Springer, Cham. https://doi.org/10.1007/978-3-319-66816-1_1781-1 Download citation .RIS .ENW .BIB DOIhttps://doi.org/10.1007/978-3-319-66816-1_1781-1 ...
Peroxisomal-type ATPase 1 peroxisome Peroxisome assembly factor 1 peroxisome assembly factor 2 Peroxisome assembly factor 3 peroxisome assembly factor-1 Peroxisome assembly protein 10 peroxisome assembly protein 12 Peroxisome Biogenesis Peroxisome Biogenesis Disorder ...
The peroxisome biogenesis disorder group 4 gene, PXAAA1, encodes a cytoplasmic ATPase required for stability of the PTS1 receptor. In humans, defects in peroxisome assembly result in the peroxisome biogenesis disorders (PBDs), a group of genetically heterogeneous, lethal recessive dise... T Yahrau...
Xavier-Castellanos-Girouard/Peroxisome-biogenesis-initiated-by-protein-phase-separation: Droplet_Fusion v0.1. Zenodo https://doi.org/10.5281/zenodo.7702890 (2023). Download references Acknowledgements We thank M. Schuldiner for seamless SWAT strains and advice on the VPS1 knockouts, J. Vogel for...
Peroxisome biogenesis and peroxisome biogenesis disorders - ScienceDirect Peroxisome assembly in mammals requires more than 15 genes. Two isoforms of the peroxisome targeting signal type 1 (PTS1) receptor, Pex5pS and Pex5pL, are ... Y Fujiki - 《International Congress》 被引量: 221发表: 2000年...
PBD peroxisomal biogenesis disorder PED peroxisomal enzyme deficiency PEX peroxin PHYH phytanoyl-CoA 2-hydoxylase PrDH pristanal dehydrogenase SCPx SCPx sVLCFA saturated very long chain fatty acids THCA trihydroxycholestanoic acid unVLCFA unsaturated very long chain fatty acids VLCFA very long chain fatt...
Proteins required for various aspects of peroxisome (microbody) biogenesis, including assembly of the peroxisomal membrane, import of peroxisomal matrix proteins, peroxisome proliferation and peroxisome inheritance. mPTS1 Peroxisomal membrane targeting signal 1 for post-translational targeting of peroxisomal memb...
Novel Mutations in the PEX2 Gene of Four Unrelated Patients with a Peroxisome Biogenesis Disorder JEANNETTE GOOTJES, ORLY ELPELEG, FRANÇOIS EYSKENS, HANNA MANDEL, DELPHINE MITANCHEZ, NOBOYUKI SHIMOZAWA, YASUYUKI SUZUKI, HANS R. WATERHAM, AND RONALD J.A. WANDERS Lab. Genetic Metabolic Diseases...
Peroxisome biogenesis disorder type 3 (also known asPEX12-related Zellweger syndrome spectrum, ZSS) is an inherited disease that stops part of the body's cells, called a peroxisome, from forming correctly. Peroxisomes normally break down waste products in a cell. Not everyone with ZSS will have...
The severe structural and functional abnormalities of the central nervous system (CNS) seen in patients with peroxisome biogenesis disorders (PBDs) (Evrard et al.1978; Powers et al.1985) (Table1) demonstrate the important role of peroxisomes in normal development and function of the brain. This ...