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.
-
An update on the neurological short tandem repeat expansion disorders and the emergence of long-read sequencing diagnostics.Acta Neuropathol Commun. 2021 May 25;9(1):98. doi: 10.1186/s40478-021-01201-x. Acta Neuropathol Commun. 2021. PMID: 34034831 Free PMC article. Review.
-
Profiling human pathogenic repeat expansion regions by synergistic and multi-level impacts on molecular connections.Hum Genet. 2023 Feb;142(2):245-274. doi: 10.1007/s00439-022-02500-6. Epub 2022 Nov 7. Hum Genet. 2023. PMID: 36344696 Free PMC article.
-
Cognitive Dysfunction in Repeat Expansion Diseases: A Review.Front Aging Neurosci. 2022 Apr 11;14:841711. doi: 10.3389/fnagi.2022.841711. eCollection 2022. Front Aging Neurosci. 2022. PMID: 35478698 Free PMC article. Review.
Publication types
MeSH terms
Substances
Associated data
- Actions
Grants and funding
LinkOut - more resources
Full Text Sources
Other Literature Sources
Medical
Molecular Biology Databases
