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Genetics of parkin-linked disease.

Publication ,  Journal Article
West, AB; Maidment, NT
Published in: Hum Genet
March 2004

Research into Parkinson's disease (PD), once considered the archetypical non-genetic neurodegenerative disorder, has been revolutionized by the identification of a number of genes, mutations of which underlie various familial forms of the disease. Whereas such mutations appear to exist in a relatively small number of individuals from a few families, the study of the function of these genes promises to reveal the fundamental disease pathogenesis, not only of familial forms of the disease, but also of the much more common sporadic PD. The observation that mutations in the second identified PD locus (parkin) are common in juvenile- and early-onset PD and increasing evidence supporting a direct role for parkin in late-onset disease make this gene a particularly compelling candidate for intensified investigation. The determination of the frequency and effect of parkin mutations in various subsets of PD will be crucial for understanding the way in which parkin is related to neurodegenerative mechanisms, and whether these subsets might be effectively identified and treated. In addition, many aspects of parkin-linked disease, originally thought to be well defined, have now been obscured both by genetic studies that preclude a simple model of disease transmission and by clinical and pathological studies that demonstrate broad variability in cases with parkin mutations. Future studies that address the issues in question should have a far-reaching impact in downstream biochemical studies and our understanding of parkin's role in PD.

Duke Scholars

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Published In

Hum Genet

DOI

ISSN

0340-6717

Publication Date

March 2004

Volume

114

Issue

4

Start / End Page

327 / 336

Location

Germany

Related Subject Headings

  • Ubiquitin-Protein Ligases
  • Parkinsonian Disorders
  • Parkinson Disease
  • Mutation
  • Mice
  • Male
  • Humans
  • Genetics & Heredity
  • Genetic Linkage
  • Genes, Dominant
 

Citation

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Chicago
ICMJE
MLA
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West, A. B., & Maidment, N. T. (2004). Genetics of parkin-linked disease. Hum Genet, 114(4), 327–336. https://doi.org/10.1007/s00439-003-1074-6
West, Andrew B., and Nigel T. Maidment. “Genetics of parkin-linked disease.Hum Genet 114, no. 4 (March 2004): 327–36. https://doi.org/10.1007/s00439-003-1074-6.
West AB, Maidment NT. Genetics of parkin-linked disease. Hum Genet. 2004 Mar;114(4):327–36.
West, Andrew B., and Nigel T. Maidment. “Genetics of parkin-linked disease.Hum Genet, vol. 114, no. 4, Mar. 2004, pp. 327–36. Pubmed, doi:10.1007/s00439-003-1074-6.
West AB, Maidment NT. Genetics of parkin-linked disease. Hum Genet. 2004 Mar;114(4):327–336.
Journal cover image

Published In

Hum Genet

DOI

ISSN

0340-6717

Publication Date

March 2004

Volume

114

Issue

4

Start / End Page

327 / 336

Location

Germany

Related Subject Headings

  • Ubiquitin-Protein Ligases
  • Parkinsonian Disorders
  • Parkinson Disease
  • Mutation
  • Mice
  • Male
  • Humans
  • Genetics & Heredity
  • Genetic Linkage
  • Genes, Dominant