Molecular basis of neurodegeneration and neurodevelopmental defects in Menkes disease
نویسندگان
چکیده
منابع مشابه
Molecular pathogenesis of Wilson and Menkes disease: correlation of mutations with molecular defects and disease phenotypes.
The trace metal copper is essential for a variety of biological processes, but extremely toxic when present in excessive amounts. Therefore, concentrations of this metal in the body are kept under tight control. Central regulators of cellular copper metabolism are the copper-transporting P-type ATPases ATP7A and ATP7B. Mutations in ATP7A or ATP7B disrupt the homeostatic copper balance, resultin...
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Molecular basis of the brindled mouse mutant (Mo(br)): a murine model of Menkes disease.
The brindled mouse mutant (Mo(br)) is the closest animal model of the human genetic copper deficiency, Menkes disease, which is presumed to be due to a mutation at the X-linked mottled locus (Mo). The mutant mice are hypopigmented and die at around 15 days after birth, but can be saved by treatment with copper before the 10th postnatal day. Menkes disease has been shown to be due to mutations o...
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Rapid progress in understanding the molecular basis of neurodegeneration has been tightly linked with recent discoveries in the field of programmed cell death (PCD). Analysis of PCD in neuronal demise has led to identification of several associated phenomena, such as re-initiation of the cell cycle and the key role of oxidative stress, although putative causal relationships between these events...
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ژورنال
عنوان ژورنال: Neurobiology of Disease
سال: 2015
ISSN: 0969-9961
DOI: 10.1016/j.nbd.2014.12.024