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Mitochrondrial dysfunction in idiopathic Parkinson disease

Article Abstract:

Mitochondrial dysfunction is an especially attractive place to look for explanations in the case of idiopathic Parkinson disease (PD). Defective mitochondrial metabolism may have an important role in various idiopathic neurodegenerative disorders. Unique genetic properties of mitochondria, among them heteroplasmy and replicative segregation, make them worth considering for a pathogenetic role various late-onset, sporadic neurodegenerative disorders.

Author: Parker, W. Davis, Jr., Swedlow, Russell H.
Publisher: University of Chicago Press
Publication Name: American Journal of Human Genetics
Subject: Biological sciences
ISSN: 0002-9297
Year: 1998

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Protein fate in neurodegenerative proteinopathies: polyglutamine diseases join the (mis)fold

Article Abstract:

Protein misfolding is central to neurodegenerative diseases. In this disease group a certain protein or group of proteins misfolds and aggregates. Mutations in a greater and greater number of genes have been found for certain types of neurodegeneration. Destinies of mutant proteins in neurons and the role, potentially, of posttranslational events in pathogenesis is considered, with focus especially on polyglutamine (polygln) diseases. .

Author: Paulson, Henry L.
Publisher: University of Chicago Press
Publication Name: American Journal of Human Genetics
Subject: Biological sciences
ISSN: 0002-9297
Year: 1999
Health aspects, Gene mutations, Gene mutation, Dementia, Alzheimer's disease, Amyloidosis, Mutation (Biology), Mutation, Prions, Prions (Proteins), Protein folding, Nerve proteins, Nerve tissue proteins, Amyotrophic lateral sclerosis

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Novel locus for autosomal dominant hereditary spastic paraplegia, on chromosome 8q

Article Abstract:

Autosomal dominant hereditary spastic paraplegia (HSP) has been shown, through analysis of a Caucasian kindred, to have a novel locus on chromosome 8q23-24. The locus takes in 6.2 cM between D8S1804 and D8S1774, and several potential candidate genes exist. Genetic loci exist on chromosomes 2p, 14q and 15q, but those loci are not a fit in 45% of autosomal dominant HSP kindreds.

Publisher: University of Chicago Press
Publication Name: American Journal of Human Genetics
Subject: Biological sciences
ISSN: 0002-9297
Year: 1999
Spasticity, Axonal transport, Paraplegia

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Subjects list: Research, United States, Physiological aspects, Genetic aspects, Mitochondria, Genetic disorders, Parkinson's disease, Parkinson disease, Usage, Nervous system, Chromosome mapping, Nerve degeneration
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