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 T. Potter; Christopher A. Ross; Russell L. Margolis

doi:10.1038/ng760

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 T. Potter, Christopher A. Ross, Russell L. Margolis

School of Medicine

Research output: Contribution to journal › Article › peer-review

230 Scopus citations

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 language	English (US)
Pages (from-to)	377-378
Number of pages	2
Journal	Nature genetics
Volume	29
Issue number	4
DOIs	https://doi.org/10.1038/ng760
State	Published - Dec 2001

ASJC Scopus subject areas

Genetics

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

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.",

author = "Holmes, {Susan E.} and Elizabeth O{\textquoteright}hearn and Adam Rosenblatt and Colleen Callahan and Hwang, {Hyon S.} and Ingersoll-Ashworth, {Roxann G.} and Adam Fleisher and Giovanni Stevanin and Alexis Brice and Potter, {Nicholas T.} and Ross, {Christopher A.} and Margolis, {Russell L.}",

year = "2001",

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T1 - A repeat expansion in the gene encoding junctophilin-3 is associated with Huntington disease-like 2

AU - Holmes, Susan E.

AU - O’hearn, Elizabeth

AU - Rosenblatt, Adam

AU - Callahan, Colleen

AU - Hwang, Hyon S.

AU - Ingersoll-Ashworth, Roxann G.

AU - Fleisher, Adam

AU - Stevanin, Giovanni

AU - Brice, Alexis

AU - Potter, Nicholas T.

AU - Ross, Christopher A.

AU - Margolis, Russell L.

PY - 2001/12

Y1 - 2001/12

N2 - 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.

AB - 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.

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JF - Nature genetics

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ER -

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

Abstract

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