Huntingtin and DRPLA proteins selectively interact with the enzyme GAPDH

James R. Burke; Jan J. Enghild; Margaret E. Martin; Yuh Shan Jou; Richard M. Myers; Allen D. Roses; Jeffery M. Vance; Warren J. Strittmatter

doi:10.1038/nm0396-347

Huntingtin and DRPLA proteins selectively interact with the enzyme GAPDH

James R. Burke, Jan J. Enghild, Margaret E. Martin, Yuh Shan Jou, Richard M. Myers, Allen D. Roses, Jeffery M. Vance, Warren J. Strittmatter

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

388 Scopus citations

Abstract

At least five adult-onset neurodegenerative diseases, including Huntington disease (HD), and dentatorubral-pallidoluysian atrophy (DRPLA) are produced by genes containing a variably increased CAG repeat within the coding region ^1-4. The size range of the repeats is similar in all diseases; unaffected individuals have fewer than 30 CAG repeats, whereas affected patients usually have more than 40 repeats. The size of the inherited CAG repeat correlates with the severity and age of disease onset^1,5-7. The CAG triplet repeat produces a polyglutamine domain in the expressed proteins^3,8-10. All of these diseases are inherited in a dominant fashion, and a pathologic gain of function in gene carriers has been proposed. We sought to identify proteins in the brain that selectively interact with polyglutamine-domain proteins, hypothesizing that the polyglutamine domain may determine protein-protein interactions.

Original language	English (US)
Pages (from-to)	347-350
Number of pages	4
Journal	Nature medicine
Volume	2
Issue number	3
DOIs	https://doi.org/10.1038/nm0396-347
State	Published - 1996
Externally published	Yes

ASJC Scopus subject areas

Biochemistry, Genetics and Molecular Biology(all)

Access to Document

10.1038/nm0396-347

Cite this

@article{0654ab5cf01246b18a57a8836be5a3a4,

title = "Huntingtin and DRPLA proteins selectively interact with the enzyme GAPDH",

abstract = "At least five adult-onset neurodegenerative diseases, including Huntington disease (HD), and dentatorubral-pallidoluysian atrophy (DRPLA) are produced by genes containing a variably increased CAG repeat within the coding region 1-4. The size range of the repeats is similar in all diseases; unaffected individuals have fewer than 30 CAG repeats, whereas affected patients usually have more than 40 repeats. The size of the inherited CAG repeat correlates with the severity and age of disease onset1,5-7. The CAG triplet repeat produces a polyglutamine domain in the expressed proteins3,8-10. All of these diseases are inherited in a dominant fashion, and a pathologic gain of function in gene carriers has been proposed. We sought to identify proteins in the brain that selectively interact with polyglutamine-domain proteins, hypothesizing that the polyglutamine domain may determine protein-protein interactions.",

author = "Burke, {James R.} and Enghild, {Jan J.} and Martin, {Margaret E.} and Jou, {Yuh Shan} and Myers, {Richard M.} and Roses, {Allen D.} and Vance, {Jeffery M.} and Strittmatter, {Warren J.}",

year = "1996",

doi = "10.1038/nm0396-347",

language = "English (US)",

volume = "2",

pages = "347--350",

journal = "Nature Medicine",

issn = "1078-8956",

publisher = "Nature Publishing Group",

number = "3",

}

TY - JOUR

T1 - Huntingtin and DRPLA proteins selectively interact with the enzyme GAPDH

AU - Burke, James R.

AU - Enghild, Jan J.

AU - Martin, Margaret E.

AU - Jou, Yuh Shan

AU - Myers, Richard M.

AU - Roses, Allen D.

AU - Vance, Jeffery M.

AU - Strittmatter, Warren J.

PY - 1996

Y1 - 1996

N2 - At least five adult-onset neurodegenerative diseases, including Huntington disease (HD), and dentatorubral-pallidoluysian atrophy (DRPLA) are produced by genes containing a variably increased CAG repeat within the coding region 1-4. The size range of the repeats is similar in all diseases; unaffected individuals have fewer than 30 CAG repeats, whereas affected patients usually have more than 40 repeats. The size of the inherited CAG repeat correlates with the severity and age of disease onset1,5-7. The CAG triplet repeat produces a polyglutamine domain in the expressed proteins3,8-10. All of these diseases are inherited in a dominant fashion, and a pathologic gain of function in gene carriers has been proposed. We sought to identify proteins in the brain that selectively interact with polyglutamine-domain proteins, hypothesizing that the polyglutamine domain may determine protein-protein interactions.

AB - At least five adult-onset neurodegenerative diseases, including Huntington disease (HD), and dentatorubral-pallidoluysian atrophy (DRPLA) are produced by genes containing a variably increased CAG repeat within the coding region 1-4. The size range of the repeats is similar in all diseases; unaffected individuals have fewer than 30 CAG repeats, whereas affected patients usually have more than 40 repeats. The size of the inherited CAG repeat correlates with the severity and age of disease onset1,5-7. The CAG triplet repeat produces a polyglutamine domain in the expressed proteins3,8-10. All of these diseases are inherited in a dominant fashion, and a pathologic gain of function in gene carriers has been proposed. We sought to identify proteins in the brain that selectively interact with polyglutamine-domain proteins, hypothesizing that the polyglutamine domain may determine protein-protein interactions.

UR - http://www.scopus.com/inward/record.url?scp=0029664992&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0029664992&partnerID=8YFLogxK

U2 - 10.1038/nm0396-347

DO - 10.1038/nm0396-347

M3 - Article

C2 - 8612237

AN - SCOPUS:0029664992

VL - 2

SP - 347

EP - 350

JO - Nature Medicine

JF - Nature Medicine

SN - 1078-8956

IS - 3

ER -

Huntingtin and DRPLA proteins selectively interact with the enzyme GAPDH

Abstract

ASJC Scopus subject areas

Access to Document

Other files and links

Fingerprint

Cite this