Results 71 to 80 of about 1,816 (142)

A common PEX1 frameshift mutation in patients with disorders of peroxisome biogenesis correlates with the severe Zellweger syndrome phenotype

, 1999
Peroxisome biogenesis disorders are a heterogeneous group of human neurodegenerative diseases caused by peroxisomal metabolic dysfunction. At the molecular level, these disorders arise from mutations in PEX genes that encode proteins required for the ...
Maxwell, Megan A., Carey, W. F., Crane, Denis I., Chin, SJ, Paton, BC, Carey, WF, Crane, DI, Paton, Barbara Cleland, Nelson, P. V., Chin, S. J., Maxwell, MA, Nelson, PV   +11 more
core   +1 more source

Novel PEX1 mutations and genotype-phenotype correlations in Australasian peroxisome biogenesis disorder patients

, 2002
The peroxisome biogenesis disorders (PBDs) are a group of neuronal migration/neurodegenerative disorders that arise from defects in PEX genes. A major subgroup of the PBDs includes Zellweger syndrome (ZS), neonatal adrenoleukodystrophy (NALD), and ...
Svingen, T, Paton, BC, Crane, DI, Allen, T, Maxwell, MA, Solly, PB   +5 more
core  

Structure of the peroxisomal Pex1/Pex6 ATPase complex bound to a substrate

The double-ring AAA+ ATPase Pex1/Pex6 is required for peroxisomal receptor recycling and is essential for peroxisome formation. Pex1/Pex6 mutations cause severe peroxisome associated developmental disorders.
Lill, P. (Pascal), Rüttermann, M. (Maximilian), Klink, B.U. (Björn), Koci, M. (Michelle), Kaschani, F. (Farnusch), Gatsogiannis, C. (Christos), Erdmann, R. (Ralf), Geladas, E.D. (Ermis)   +7 more
core   +1 more source

Analysis of the PEX1 gene of patients with Zellweger syndrome: Identification of a novel deletion and characterization of polymorphisms in the 5' untranslated region

, 2011
Erkrankungen des Zellweger-Spektrums sind autosomal rezessiv vererbte peroxisomale Stoffwechselerkrankungen. Mutationen im PEX1-Gen sind die häufigste Ursache.
Rabenau, Jana
core   +1 more source

Structure of the N-terminal Domain of PEX1 AAA-ATPase [PDF]

Journal of Biological Chemistry, 2004
K. Shiozawa, N. Maita, K. Tomii, A. Seto, N. Goda, Y. Akiyama, T. Shimizu, M. Shirakawa, H. Hiroaki   +8 more
openaire   +2 more sources

PEX1 Mutations in Complementation Group 1 of Zellweger Spectrum Patients Correlate with Severity of Disease

, 2002
The peroxisome biogenesis disorders (PBD) are a group of autosomal-recessive diseases with complex developmental and metabolic phenotypes, including the Zellweger spectrum and rhizomelic chondrodysplasia punctata.
Ernst Conzelmann, Ania C Muntau, Martina Biermanns, Preuss, N., Biermanns, M., Jutta Gärtner, Muntau, Ania C., Ute Brosius, Conzelmann, E., Gärtner, Jutta, Brosius, U., Natalie Preuss   +11 more
core   +1 more source

Deficiency of the exportomer components Pex1, Pex6, and Pex15 causes enhanced pexophagy in Saccharomyces cerevisiae

, 2014
Turnover of damaged, dysfunctional, or excess organelles is critical to cellular homeostasis. We screened mutants disturbed in peroxisomal protein import, and found that a deficiency in the exportomer subunits Pex1, Pex6, and Pex15 results in enhanced ...
James M Nuttall (816424), Ewald H Hettema (816426), Alison M Motley (816425)   +2 more
core   +1 more source

The Pex1/Pex6 AAA-ATPase Machinery: The Role of the Pex6 N1 and Pex1 D2 ATPase Domains in Peroxisomal Matrix Protein Import

Peroxisomes are membrane-bound organelles that house enzymes essential for specialized metabolic processes, including the β-oxidation of very long-chain fatty acids. Their biogenesis and maintenance rely on approximately 35 Pex proteins.
Ali, Bashir
core  

Whole exome sequencing and polygenic risk assessment for kidney functions and clinical management in both hospital-based cohort and population-based Asian cohorts

Journal of Biomedical Science
Background Taiwan has the highest prevalence of chronic kidney disease (CKD) and end-stage kidney disease (ESKD) globally, making them major public health concerns with significant morbidity, mortality, and healthcare burden.
Min-Rou Lin, I-Wen Wu, Wan-Hsuan Chou, Yung-Feng Lin, Kuan-Yu Hung, Kaname Kojima, Kosuke Shido, Kengo Kinoshita, Wei-Chiao Chang, Mai-Szu Wu   +9 more
doaj   +1 more source

Temperature-sensitive mutation of PEX6 in peroxisome biogenesis disorders in complementation group C (CG-C): comparative study of PEX6 and PEX1

, 2000
Peroxisome biogenesis disorders (PBD), including Zellweger syndrome, neonatal adrenoleukodystrophy, and infantile Refsum disease, are a group of genetically heterogeneous autosomal-recessive diseases caused by mutations in PEX genes that encode peroxins,
Osumi, T., Naomi Kondo, Imamura, A., Yasuyuki Suzuki, Fujiki, Y., Nobuyuki Shimozawa, Zhang, Z., Zhongyi Zhang, Ronald J A Wanders, Atsushi Imamura, Toshiro Tsukamoto, Suzuki, Y., Tadao Orii, Shimozawa, N., Takashi Osumi, Kondo, N., Yukio Fujiki, Orii, T., Wanders, R. J., Tsukamoto, T.   +19 more
core   +1 more source