지원사업
학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
커뮤니티
연구자들이 자신의 연구와 전문성을 널리 알리고, 새로운 협력의 기회를 만들 수 있는 네트워킹 공간이에요.
논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 저널정보
- 대한치매학회 Dementia and Neurocognitive Disorders(대한치매학회지) Dementia and Neurocognitive Disorders(대한치매학회지) 제11권 제1호
- 발행연도
- 2012.1
- 수록면
- 1 - 12 (12page)
이용수
초록· 키워드
오류제보하기
The majority of neurodegenerative dementias are thought to result primarily from the misfolding, aggregation and accumulation of proteins which interfere with protein homeostasis in the brain. Some of them are caused by the expansion of unstable nucleotide repeats, which include Huntington’s disease as a prototype. Other neurodevelopmental or neurodegenerative disorders, such as fragile X syndrome, some spinocerebellar ataxias and myotonic dystrophies exhibit cognitive or behavioral deficits as parts of their clinical manifestations. Unstable repeat expansions include trinucleotide, tetranucleotide, and pentanucleotide. Recently hexanucleotide repeat expansion in frontotemporal dementia and amyotrophic lateral sclerosis was identified. The pathogenic mechanisms for these repeat disorders include either loss of protein function or gain of function at the protein or RNA levels. The aim of this article is to review proposed mechanisms by which unstable repeat expansions give rise to degeneration of brain with the hope of understanding the diseases and providing insights into the areas of therapeutic intervention. We will review these potential mechanisms in the context of fragile X syndrome, Huntington’s disease, spinocerebellar ataxias, myotonic dystrophy, and frontotemporal dementia and amyotrophic lateral sclerosis. We will also discuss the potential targets for therapeutic intervention.
목차
등록된 정보가 없습니다.
참고문헌 (26)
참고문헌 신청
Ashizawa T / 2001 / Spinocerebellar ataxia type 10 (SCA10): a disease caused by a novel pentanucleotide repeat expansion / Rinsho Shinkeigaku 41 : 1120 ~ 1122
Bauer P / 2004 / Trinucleotide repeat expansion in SCA17/TBP in white patients with Huntington’s disease-like phenotype / J Med Genet 41 : 230 ~ 232
Brook JD / 1992 / Molecular basis of myotonic dystrophy: expansion of a trinucleotide (CTG) repeat at the 3’ end of a transcript encoding a protein kinase family member / C
Burk K / 2003 / Cognitive deficits in spinocerebellar ataxia type 1, 2, and 3 / J Neurol 250 : 207 ~ 211
DeJesus-Hernandez M / 2011 / Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS / Neuron 72 : 245 ~ 256
Bauer P / 2004 / Trinucleotide repeat expansion in SCA17/TBP in white patients with Huntington’s disease-like phenotype / J Med Genet 41 : 230 ~ 232
Brook JD / 1992 / Molecular basis of myotonic dystrophy: expansion of a trinucleotide (CTG) repeat at the 3’ end of a transcript encoding a protein kinase family member / C
Burk K / 2003 / Cognitive deficits in spinocerebellar ataxia type 1, 2, and 3 / J Neurol 250 : 207 ~ 211
DeJesus-Hernandez M / 2011 / Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS / Neuron 72 : 245 ~ 256
이 논문의 저자 정보
최근 본 자료
댓글(0)
0