Results 101 to 110 of about 12,596 (155)
Some of the next articles are maybe not open access.
Biochemistry and Cell Biology, 1991
The concept that there are human disease states that are associated with abnormal peroxisomal function is of recent origin. This is due in part to the relatively recent discovery of the organelle itself by de Duve in 1983, and to the earlier belief that it was a vestigial structure in mammals.
H W, Moser, A, Bergin, D, Cornblath
openaire +2 more sources
The concept that there are human disease states that are associated with abnormal peroxisomal function is of recent origin. This is due in part to the relatively recent discovery of the organelle itself by de Duve in 1983, and to the earlier belief that it was a vestigial structure in mammals.
H W, Moser, A, Bergin, D, Cornblath
openaire +2 more sources
Seminars in Neonatology, 2002
Peroxisomes are subcellular organelles catalyzing a number of indispensable functions in cellular metabolism. The importance of peroxisomes is stressed by the existence of an expanding number of genetic diseases in which there is an impairment of one or more peroxisomal functions.
Baumgartner, Matthias R +1 more
openaire +2 more sources
Peroxisomes are subcellular organelles catalyzing a number of indispensable functions in cellular metabolism. The importance of peroxisomes is stressed by the existence of an expanding number of genetic diseases in which there is an impairment of one or more peroxisomal functions.
Baumgartner, Matthias R +1 more
openaire +2 more sources
Microscopy Research and Technique, 2003
AbstractPeroxisomes are single membrane‐bound cell organelles performing numerous metabolic functions. The present article aims to give an overview of our current knowledge about inherited peroxisomal disorders in which these organelles are lacking or one or more of their functions are impaired.
Marianne, Depreter +2 more
openaire +2 more sources
AbstractPeroxisomes are single membrane‐bound cell organelles performing numerous metabolic functions. The present article aims to give an overview of our current knowledge about inherited peroxisomal disorders in which these organelles are lacking or one or more of their functions are impaired.
Marianne, Depreter +2 more
openaire +2 more sources
Hospital Practice, 1985
It is now recognized that absence of normal peroxisomal function is associated with far-reaching and devastating consequences. A group of diverse genetic disorders in which either defective formation of the peroxisome or deficiency of one or more of its constituent enzymes is the central pathogenetic feature has recently been described. Three principal
H W, Moser, S L, Goldfischer
openaire +2 more sources
It is now recognized that absence of normal peroxisomal function is associated with far-reaching and devastating consequences. A group of diverse genetic disorders in which either defective formation of the peroxisome or deficiency of one or more of its constituent enzymes is the central pathogenetic feature has recently been described. Three principal
H W, Moser, S L, Goldfischer
openaire +2 more sources
2013
The peroxisomal disorders represent a group of genetic diseases in man in which there is an impairment in one or more peroxisomal functions. The peroxisomal disorders are subdivided into three subgroups comprising: (1) the peroxisome biogenesis disorders (PBDs); (2) the single peroxisomal (enzyme-) protein deficiencies; and (3) the single peroxisomal ...
Patrick, Aubourg, Ronald, Wanders
openaire +2 more sources
The peroxisomal disorders represent a group of genetic diseases in man in which there is an impairment in one or more peroxisomal functions. The peroxisomal disorders are subdivided into three subgroups comprising: (1) the peroxisome biogenesis disorders (PBDs); (2) the single peroxisomal (enzyme-) protein deficiencies; and (3) the single peroxisomal ...
Patrick, Aubourg, Ronald, Wanders
openaire +2 more sources
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 ...
Masanori, Honsho +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
Current Opinion in Pediatrics, 1999
Peroxisomes, subcellular organelles found in nearly all eukaryotic cells, are involved in numerous biochemical functions within the cell. There has been an increasing understanding of the genetic mechanism of the diseases of the single peroxisomal enzyme abnormalities as well as defects of peroxisome biogenesis.
openaire +3 more sources
Peroxisomes, subcellular organelles found in nearly all eukaryotic cells, are involved in numerous biochemical functions within the cell. There has been an increasing understanding of the genetic mechanism of the diseases of the single peroxisomal enzyme abnormalities as well as defects of peroxisome biogenesis.
openaire +3 more sources
The Journal of Pediatrics, 1986
Peroxisomal disorders occur more frequently and have a wider range of clinical manifestations than has been realized in the past. Precise diagnosis can be achieved with non-invasive biochemical assays and all can be diagnosed prenatally, thus providing the option of genetic counseling.
openaire +4 more sources
Peroxisomal disorders occur more frequently and have a wider range of clinical manifestations than has been realized in the past. Precise diagnosis can be achieved with non-invasive biochemical assays and all can be diagnosed prenatally, thus providing the option of genetic counseling.
openaire +4 more sources
Brain and Development, 1987
The different types of adrenoleukodystrophy are considered with their clinical and biochemical features, particularly the excess of very-long-chain fatty acids. Then other conditions which show this latter finding are described, including the Zellweger cerebrohepatorenal syndrome, hyperpipecolic acidemia and Refsum disease.
openaire +2 more sources
The different types of adrenoleukodystrophy are considered with their clinical and biochemical features, particularly the excess of very-long-chain fatty acids. Then other conditions which show this latter finding are described, including the Zellweger cerebrohepatorenal syndrome, hyperpipecolic acidemia and Refsum disease.
openaire +2 more sources