A repeat expansion in the gene encoding junctophilin-3 is associated with Huntington disease-like 2

Susan E. Holmes, Elizabeth O’hearn, Adam Rosenblatt, Colleen Callahan, Hyon S. Hwang, Roxann G. Ingersoll-Ashworth, Adam Fleisher, Giovanni Stevanin, Alexis Brice, Nicholas Potter, Christopher A. Ross, Russell L. Margolis

Research output: Contribution to journalArticle

213 Citations (Scopus)

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)1. 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.

Original languageEnglish (US)
Pages (from-to)377-378
Number of pages2
JournalNature Genetics
Volume29
Issue number4
DOIs
StatePublished - Jan 1 2001

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Pedigree
Organism Cloning
Exons
Membranes
Genes
Huntington Disease-Like 2
junctophilin

All Science Journal Classification (ASJC) codes

  • Genetics

Cite this

Holmes, S. E., O’hearn, E., Rosenblatt, A., Callahan, C., Hwang, H. S., Ingersoll-Ashworth, R. G., ... Margolis, R. L. (2001). A repeat expansion in the gene encoding junctophilin-3 is associated with Huntington disease-like 2. Nature Genetics, 29(4), 377-378. https://doi.org/10.1038/ng760

A repeat expansion in the gene encoding junctophilin-3 is associated with Huntington disease-like 2. / Holmes, Susan E.; O’hearn, Elizabeth; Rosenblatt, Adam; Callahan, Colleen; Hwang, Hyon S.; Ingersoll-Ashworth, Roxann G.; Fleisher, Adam; Stevanin, Giovanni; Brice, Alexis; Potter, Nicholas; Ross, Christopher A.; Margolis, Russell L.

In: Nature Genetics, Vol. 29, No. 4, 01.01.2001, p. 377-378.

Research output: Contribution to journalArticle

Holmes, SE, O’hearn, E, Rosenblatt, A, Callahan, C, Hwang, HS, Ingersoll-Ashworth, RG, Fleisher, A, Stevanin, G, Brice, A, Potter, N, Ross, CA & Margolis, RL 2001, 'A repeat expansion in the gene encoding junctophilin-3 is associated with Huntington disease-like 2', Nature Genetics, vol. 29, no. 4, pp. 377-378. https://doi.org/10.1038/ng760
Holmes SE, O’hearn E, Rosenblatt A, Callahan C, Hwang HS, Ingersoll-Ashworth RG et al. A repeat expansion in the gene encoding junctophilin-3 is associated with Huntington disease-like 2. Nature Genetics. 2001 Jan 1;29(4):377-378. https://doi.org/10.1038/ng760
Holmes, Susan E. ; O’hearn, Elizabeth ; Rosenblatt, Adam ; Callahan, Colleen ; Hwang, Hyon S. ; Ingersoll-Ashworth, Roxann G. ; Fleisher, Adam ; Stevanin, Giovanni ; Brice, Alexis ; Potter, Nicholas ; Ross, Christopher A. ; Margolis, Russell L. / A repeat expansion in the gene encoding junctophilin-3 is associated with Huntington disease-like 2. In: Nature Genetics. 2001 ; Vol. 29, No. 4. pp. 377-378.
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