Unstable expansion of CAG repeat in hereditary dentatorubral–pallidoluysian atrophy (DRPLA)
Explore this paper's citation graph
Summary
It is proposed that the wide variety of clinical manifestations of DRPLA can now be explained by the variable unstable expansion of the CAG repeat.
- Type
- article
- Published
- 1994-01-01
- Cited by
- 1,126
- References
- 31
- OpenAlex
- https://openalex.org/W2012481532
- Semantic Scholar
- https://api.semanticscholar.org/CorpusID:27241147
Keywords
Trinucleotide repeat expansion, Biology, Spinocerebellar ataxia, Myoclonus, Progressive myoclonus epilepsy
References
- Variation of the CGG repeat at the fragile X site results in genetic instability: resolution of the Sherman paradox.
- Supercoil sequencing: a fast method for sequencing plasmid DNA
- Relationship between trinucleotide repeat expansion and phenotypic variation in Huntington's disease
- Novel triplet repeat containing genes in human brain: cloning, expression, and length polymorphisms.
- An unstable triplet repeat in a gene related to myotonic muscular dystrophy.
- The relationship between trinucleotide (CAG) repeat length and clinical features of Huntington's disease
- Anticipation in spinocerebellar ataxia type 2
- Trinucleotide repeat length instability and age of onset in Huntington's disease
- Dentato-rubro-pallido-luysian atrophy: a clinico-pathological study.
- Chromosomal assignment of the second locus for autosomal dominant cerebellar ataxia (SCA2) to chromosome 12q23–24.1
- Human genes containing polymorphic trinucleotide repeats
- Expansion of an unstable DNA region and phenotypic variation in myotonic dystrophy
- Supercoil Sequencing: A Fast and Simple Method for Sequencing Plasmid DNA
- Hereditary dentatorubral‐pallidoluysian atrophy
- Construction of T-vectors, a rapid and general system for direct cloning of unmodified PCR products.
- Unusual form of cerebellar ataxia
- Progressive myoclonus epilepsy: dentato-rubro-pallido-luysian atrophy (DRPLA) in childhood.
- Myotonic dystrophy mutation: an unstable CTG repeat in the 3' untranslated region of the gene.
- Detection of an unstable fragment of DNA specific to individuals with myotonic dystrophy
- Familial myoclonus epilepsy and choreoathetosis
Cited by
- Dentatorubral-pallidoluysian atrophy (DRPLA).
- Chorea Huntington Tiermodelle eröffnen neue Hypothesen zu Pathophysiologie und Therapie
- Comparative sequence analysis of the human and pufferfish Huntington's disease genes
- Epidemiology and population genetics of degenerative ataxias.
- Dentatorubral-pallidoluysian atrophy (DRPLA): clinical, genetic, and neuroradiologic studies in a family.
- Long, polymorphic microsatellites in simple organisms
- Dentatorubral-pallidoluysian atrophy proteins in lymphoblastoid cells
- Reduced androgen receptor gene expression with first exon CAG repeat expansion.
- Regional and cellular expression of the dentatorubral‐pallidoluysian atrophy gene in brains of normal and affected individuals
- A cellular model that recapitulates major pathogenic steps of Huntington's disease.
- Patterns of instability of expanded CAG repeats at the ERDA1 locus in general populations.
- Differences in evoked potential characteristics between DRPLA patients and patients with progressive myoclonic epilepsy: preliminary findings indicating usefulness for differential diagnosis.
- Unique characteristics of ubiquitin-bonded complex play a pathological role in dentatorubral-pallidoluysian atrophy.
- Metabolic characterization of spinocerebellar ataxia type 6.
- Oligomerization of polyalanine expanded PABPN1 facilitates nuclear protein aggregation that is associated with cell death.
- Trinucleotide repeats: mechanisms and pathophysiology.
- Pathological accumulation of atrophin-1 in dentatorubralpallidoluysian atrophy.
- Transglutaminase and diseases of the central nervous system.
- Anomalous protein-DNA interactions behind neurological disorders.
- DRPLA: recent advances in research using transgenic mouse models.
Related papers
- Amelioration of disabling myoclonus in a case of DRPLA by levetiracetam.
- An expanded CAG repeat sequence in spinocerebellar ataxia type 7.
- Levetiracetam in progressive myoclonic epilepsy
- Levetiracetam in three cases of progressive myoclonus epilepsy
- Myoclonus improvement after seizures in progressive myoclonic epilepsy type 7: a case report
- Progressive Myoclonus Epilepsy with Adolescent Onset: Clinical Features and Diagnosis
- Instability of expanded CAG/CAA repeats in spinocerebellar ataxia type 17
- Progressive Myoclonus Epilepsies
- Progressive myoclonus epilepsy and ceroidolipofuscinosis 14: The multifaceted phenotypic spectrum of KCTD7-related disorders.