Defective peroxisome biogenesis with a neuromuscular disorder resembling Werdnig-Hoffman disease
نویسندگان
چکیده
منابع مشابه
Arginine improves peroxisome functioning in cells from patients with a mild peroxisome biogenesis disorder
BACKGROUND Zellweger spectrum disorders (ZSDs) are multisystem genetic disorders caused by a lack of functional peroxisomes, due to mutations in one of the PEX genes, encoding proteins involved in peroxisome biogenesis. The phenotypic spectrum of ZSDs ranges from an early lethal form to much milder presentations. In cultured skin fibroblasts from mildly affected patients, peroxisome biogenesis ...
متن کاملChronic generalized spinal muscular atrophy of infancy and childhood. Arrested Werdnig-Hoffman disease.
Pearn, J. H., and Wilson, J. (1973). Archives of Disease in Childhood, 48, 768. Chronic generalized spinal muscular atrophy of infancy and childhood: arrested Werdnig-Hoffmann disease. Recent studies have shown that the acute fatal form of infantile spinal muscular atrophy (acute Werdnig-Hoffmann disease or spinal muscular atrophy Type I) is a distinct genetic and clinical entity. This has prom...
متن کاملPeroxisome biogenesis and positioning.
Plant peroxisomes are extremely dynamic, moving and undergoing changes of shape in response to metabolic and environmental signals. Matrix proteins are imported via one of two import pathways, depending on the targeting signal within the protein. Each pathway has a specific receptor but utilizes common membrane-bound translocation machinery. Current models invoke receptor recycling, which may i...
متن کاملPeroxisome biogenesis and human peroxisome-deficiency disorders
Peroxisome is a single-membrane-bounded ubiquitous organelle containing a hundred different enzymes that catalyze various metabolic pathways such as β-oxidation of very long-chain fatty acids and synthesis of plasmalogens. To investigate peroxisome biogenesis and human peroxisome biogenesis disorders (PBDs) including Zellweger syndrome, more than a dozen different complementation groups of Chin...
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ژورنال
عنوان ژورنال: Neurology
سال: 1998
ISSN: 0028-3878,1526-632X
DOI: 10.1212/wnl.51.5.1427