Results 221 to 230 of about 1,353,029 (249)
Peroxisomal disorders I: biochemistry and genetics of peroxisome biogenesis disorders
Clinical Genetics, 2005 The peroxisomal disorders represent a group of genetic diseases in humans in which there is an impairment in one or more peroxisomal functions. The peroxisomal disorders are usually subdivided into two subgroups including (i) the peroxisome biogenesis ...
Hans Waterham +2 more
exaly +5 more sources
Some of the next articles are maybe not open access.
Related searches:
Related searches:
Peroxisome Biogenesis Disorders
2020Peroxisomes are presented in all eukaryotic cells and play essential roles in many of lipid metabolic pathways, including β-oxidation of fatty acids and synthesis of ether-linked glycerophospholipids, such as plasmalogens. Impaired peroxisome biogenesis, including defects of membrane assembly, import of peroxisomal matrix proteins, and division of ...
Peter K Kim
exaly +4 more sources
Genetics and molecular basis of human peroxisome biogenesis disorders [PDF]
Biochimica Et Biophysica Acta - Molecular Basis of Disease, 2012 Human peroxisome biogenesis disorders (PBDs) are a heterogeneous group of autosomal recessive disorders comprised of two clinically distinct subtypes: the Zellweger syndrome spectrum (ZSS) disorders and rhizomelic chondrodysplasia punctata (RCDP) type 1.
Hans Waterham, Merel S Ebberink
exaly +2 more sources
Molecular insights into peroxisome homeostasis and peroxisome biogenesis disorders
Biochimica Et Biophysica Acta - Molecular Cell Research, 2022Peroxisomes are single-membrane organelles essential for cell metabolism including the β-oxidation of fatty acids, synthesis of etherlipid plasmalogens, and redox homeostasis. Investigations into peroxisome biogenesis and the human peroxisome biogenesis disorders (PBDs) have identified 14 PEX genes encoding peroxins involved in peroxisome biogenesis ...
Kanji Okumoto +2 more
exaly +3 more sources
Therapeutic developments in peroxisome biogenesis disorders
Expert Opinion on Investigational Drugs, 2000Clinically, peroxisome biogenesis disorders (PBDs) are a group of lethal diseases with a continuum of severity of clinical symptoms ranging from the most severe form, Zellweger syndrome, to the milder forms, infantile Refsum disease and rhizomelic chondrodysplasia punctata.
M C McGuinness, K D Smith, Kirby D Smith
exaly +3 more sources
Disorders of peroxisome biogenesis
Human Molecular Genetics, 1995The peroxisome is a ubiquitous, subcellular organelle containing more than 50 matrix enzymes that participate in a diverse array of metabolic pathways. Failure to assemble normal peroxisomes is the cellular hallmark of Zellweger syndrome and other human disorders of peroxisome biogenesis.
N, Braverman +3 more
openaire +2 more sources
Peroxisome Biogenesis Disorders
Annual Review of Genomics and Human Genetics, 2003The peroxisome biogenesis disorders (PBDs) comprise 12 autosomal recessive complementation groups (CGs). The multisystem clinical phenotype varies widely in severity and results from disturbances in both development and metabolic homeostasis. Progress over the last several years has lead to identification of the genes responsible for all of these ...
Sabine, Weller +2 more
openaire +2 more sources
Peroxisome Biogenesis and Molecular Defects in Peroxisome Assembly Disorders
Cell Biochemistry and Biophysics, 2000Peroxisome assembly in mammals requires more than 14 genes. So far, we have isolated seven complementation groups (CGs) of peroxisome biogenesis-defective Chinese hamster ovary (CHO) cell mutants, Z65, Z24/ZP107, ZP92, ZP105/ZP139, ZP109, ZP110, ZP114. Two peroxin cDNAs, PEX2 and PEX6, were first cloned by genetic phenotype-complementation assay using ...
Y, Fujiki +3 more
openaire +2 more sources
Mouse Models for Peroxisome Biogenesis Disorders
Cell Biochemistry and Biophysics, 2000The gene knockout technology has been applied to generate mice lacking functional peroxisomes. These mice are a model for Zellweger syndrome and other peroxisome biogenesis disorders that are lethal in early life. Extensive biochemical, ultrastructural, and neurodevelopmental analyses indicate that the peroxisome deficient mice closely mimic the ...
openaire +2 more sources
Zellweger syndrome — a lethal peroxisome biogenesis disorder
Journal of Pediatric Endocrinology and Metabolism, 2013Zellweger 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 which are essential for many metabolic functions especially beta oxidation of very long chain fatty acids (VLCFAs).
Muhammad, Rafique +3 more
openaire +2 more sources