Ergoren, Mahmut erkezNear East UniversityIsmail, Aya BadeeaNear East UniversityKose, MelisEge UniversityTemel, Sehime GulsunBursa Uludag UniversitySpringer, Cham
Peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD, ZSS) are constituted of three different phenotypically disorders: Zellweger syndrome (ZS), the most severe; neonatal adrenoleukodystrophy (NALD); and infantile refsum disease (IRD), the least severe, that have been originally described ...
Peroxisome Biogenesis Disorders , Zellweger Syndrome Spectrum. Excerpt DISEASE CHARACTERISTICS: Peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD, ZSS) is a continuum of three phenotypes 鈥 Zellweger sy... SJ Steinberg,GV Raymond,NE Braverman,... - 《University of Washington Seattle》 被...
cancer, and neurodegenerative diseases, as well as peroxisome biogenesis disorders (PBDs)2. Zellweger syndrome, one of the three PBDs, is a rare congenital disorder characterized by a reduction in the number of or absence of functional peroxisomes in the cells of an individual. Zellweger syndrome...
Peroxisome biogenesis Fig. 1: Schematics of the peroxisome biogenesis and degradation systems. The number of peroxisomes is regulated by de novo biogenesis and the growth and division of pre-existing organelles. First, peroxisomes can be formed by the maturation of preperoxisomal vesicles that emerge...
(Pediatr Res 48: 541–545, 2000) Abbreviations ts, temperature sensitive AAA, ATPases associated with diverse cellular activities CG, complementation group PBD, peroxisome biogenesis disorders ZS, Zellweger syndrome NALD, neonatal adrenoleukodystrophy IRD, infantile Refsum disease RT-PCR, reverse ...
Peroxisome biogenesis disorders in the Zellweger spectrum: an overview of current diagnosis, clinical manifesta- tions, and treatment guidelines. Mol Genet Metab 2016;117(3):313-21.Braverman NE, Raymond GV, Rizzo WB et al (2016) Peroxisome biogenesis disorders in the Zellweger ...
Zellweger syndrome (ZS) is the severest variety of peroxisomal biogenesis disorder (PBD). This is a fatal hereditary, autosomal recessive disorder. It is characterized by the absence of peroxisomes in the cells ...
PEX1 mutations in the zellweger spectrum of the peroxisome biogenesis disorders. Hum Mutat. 2005;26(3):167-75.D.I. Crane, M.A. Maxwell, B.C. Paton, PEX1 mutations in the Zellweger spectrum of the peroxisome biogenesis disorders, Hum. Mutat. 26 (2005) 167-175....
(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 ...