doi: 10.1038/ng760.
A repeat expansion in the gene encoding junctophilin-3 is associated with Huntington disease-like 2
Affiliations
- PMID: 11694876
- DOI: 10.1038/ng760
Item in Clipboard
A repeat expansion in the gene encoding junctophilin-3 is associated with Huntington disease-like 2
Nat Genet.
2001 Dec.
Erratum in
- Nat Genet 2002 Jan;30(1):123
Abstract
We recently described a disorder termed Huntington disease-like 2 (HDL2) that completely segregates with an unidentified CAG/CTG expansion in a large pedigree (W). We now report the cloning of this expansion and its localization to a variably spliced exon of JPH3 (encoding junctophilin-3), a gene involved in the formation of junctional membrane structures.
Similar articles
-
Huntington's disease-like phenotype due to trinucleotide repeat expansions in the TBP and JPH3 genes.Brain. 2003 Jul;126(Pt 7):1599-603. doi: 10.1093/brain/awg155. Epub 2003 May 6. Brain. 2003. PMID: 12805114
-
Huntington's Disease-like 2 (HDL2) in North America and Japan.Ann Neurol. 2004 Nov;56(5):670-4. doi: 10.1002/ana.20248. Ann Neurol. 2004. PMID: 15468075
-
Junctophilin 3 (JPH3) expansion mutations causing Huntington disease like 2 (HDL2) are common in South African patients with African ancestry and a Huntington disease phenotype.Am J Med Genet B Neuropsychiatr Genet. 2015 Oct;168(7):573-85. doi: 10.1002/ajmg.b.32332. Epub 2015 Jun 16. Am J Med Genet B Neuropsychiatr Genet. 2015. PMID: 26079385 Free PMC article.
-
Predictive testing for Huntington disease: interpretation and significance of intermediate alleles.Clin Genet. 2006 Oct;70(4):283-94. doi: 10.1111/j.1399-0004.2006.00668.x. Clin Genet. 2006. PMID: 16965319 Review.
-
[Hereditary chorea--update].Rinsho Shinkeigaku. 2004 Nov;44(11):932-4. Rinsho Shinkeigaku. 2004. PMID: 15651335 Review. Japanese.
Cited by
-
Pathogenic mechanisms of myotonic dystrophy.Biochem Soc Trans. 2009 Dec;37(Pt 6):1281-6. doi: 10.1042/BST0371281. Biochem Soc Trans. 2009. PMID: 19909263 Free PMC article. Review.
-
The junctophilin family of proteins: from bench to bedside.Trends Mol Med. 2014 Jun;20(6):353-62. doi: 10.1016/j.molmed.2014.02.004. Epub 2014 Mar 14. Trends Mol Med. 2014. PMID: 24636942 Free PMC article. Review.
-
Recent advances in genetics of chorea.Curr Opin Neurol. 2016 Aug;29(4):486-95. doi: 10.1097/WCO.0000000000000352. Curr Opin Neurol. 2016. PMID: 27257945 Free PMC article. Review.
-
Huntington disease-like 2: insight into neurodegeneration from an African disease.Nat Rev Neurol. 2024 Jan;20(1):36-49. doi: 10.1038/s41582-023-00906-y. Epub 2023 Dec 19. Nat Rev Neurol. 2024. PMID: 38114648 Review.
-
Mutation of junctophilin type 2 associated with hypertrophic cardiomyopathy.J Hum Genet. 2007;52(6):543-548. doi: 10.1007/s10038-007-0149-y. Epub 2007 May 3. J Hum Genet. 2007. PMID: 17476457
Publication types
MeSH terms
Substances
Associated data
- Actions
Grants and funding
LinkOut - more resources
Full Text Sources
Other Literature Sources
Medical
Molecular Biology Databases
