Molecular genetics: Unmasking polyglutamine triggers in neurodegenerative disease
Top Cited Papers
- 1 November 2000
- journal article
- review article
- Published by Springer Nature in Nature Reviews Neuroscience
- Vol. 1 (2) , 109-115
- https://doi.org/10.1038/35039051
Abstract
Two decades ago, molecular genetic analysis provided a new approach for defining the roots of inherited disorders. This strategy has proved particularly powerful because, with only a description of the inheritance pattern, it can uncover previously unsuspected mechanisms of pathogenesis that are not implicated by known biological pathways or by the disease manifestations. Nowhere has the impact of molecular genetics been more evident than in the dominantly inherited neurodegenerative disorders, where eight unrelated diseases have been revealed to possess the same type of mutation — an expanded polyglutamine encoding sequence — affecting different genes.Keywords
This publication has 93 references indexed in Scilit:
- Chaperones Hsp70 and Hsp40 Suppress Aggregate Formation and Apoptosis in Cultured Neuronal Cells Expressing Truncated Androgen Receptor Protein with Expanded Polyglutamine TractJournal of Biological Chemistry, 2000
- Mutant Huntingtin Forms in Vivo Complexes with Distinct Context-Dependent Conformations of the Polyglutamine SegmentNeurobiology of Disease, 1999
- Transgenic mice harboring a full-length human mutant DRPLA gene exhibit age-dependent intergenerational and somatic instabilities of CAG repeats comparable with those in DRPLA patientsHuman Molecular Genetics, 1999
- Spinocerebellar ataxia type 6: CAG trinucleotide expansion, clinical characteristics and sperm analysisEuropean Journal of Neurology, 1998
- Aggregation of Huntingtin in Neuronal Intranuclear Inclusions and Dystrophic Neurites in BrainScience, 1997
- SCA2 trinucleotide expansion in German SCA patientsneurogenetics, 1997
- Exon 1 of the HD Gene with an Expanded CAG Repeat Is Sufficient to Cause a Progressive Neurological Phenotype in Transgenic MiceCell, 1996
- Homozygosity for Machado-Joseph disease gene enhances phenotypic severity.Journal of Neurology, Neurosurgery & Psychiatry, 1996
- Relationship between trinucliotide repeats and neuropathological changes in Huntington's dieaseAnnals of Neurology, 1996
- Stability of an expanded trinucleotide repeat in the androgen receptor gene in transgenic miceNature Genetics, 1995