Intranuclear inclusions in oculopharyngeal muscular dystrophy contain poly(A) binding protein 2

Mark W. Becher; Joyce A. Kotzuk; Larry E. Davis; David G. Bear

doi:10.1002/1531-8249(200011)48:5<812::AID-ANA20>3.0.CO;2-2

Intranuclear inclusions in oculopharyngeal muscular dystrophy contain poly(A) binding protein 2

Mark W. Becher
, Joyce A. Kotzuk
, Larry E. Davis
, David G. Bear

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

39 Scopus citations

Abstract

Intranuclear inclusions are one of the ultrastructural hallmarks of oculopharyngeal muscular dystrophy (OPMD), a disorder caused by small polyalanine (GCG) expansions in the gene that codes for a ubiquitous nuclear protein called poly(A) binding protein 2 (PABP2). We studied OPMD skeletal muscle and found that 1.0 to 10.0% of myocyte nuclei contained discreet PABP2 immunoreactive intranuclear inclusions, providing the first direct evidence of the relation between the proposed gene for OPMD and the pathology of OPMD.

Original language	English (US)
Pages (from-to)	812-815
Number of pages	4
Journal	Annals of Neurology
Volume	48
Issue number	5
DOIs	https://doi.org/10.1002/1531-8249(200011)48:5<812::AID-ANA20>3.0.CO;2-2
State	Published - 2000
Externally published	Yes

ASJC Scopus subject areas

Neurology
Clinical Neurology

Access to Document

10.1002/1531-8249(200011)48:5<812::AID-ANA20>3.0.CO;2-2

Cite this

@article{3c332e8b397541eb8a17e5ce52c8bf34,

title = "Intranuclear inclusions in oculopharyngeal muscular dystrophy contain poly(A) binding protein 2",

abstract = "Intranuclear inclusions are one of the ultrastructural hallmarks of oculopharyngeal muscular dystrophy (OPMD), a disorder caused by small polyalanine (GCG) expansions in the gene that codes for a ubiquitous nuclear protein called poly(A) binding protein 2 (PABP2). We studied OPMD skeletal muscle and found that 1.0 to 10.0\% of myocyte nuclei contained discreet PABP2 immunoreactive intranuclear inclusions, providing the first direct evidence of the relation between the proposed gene for OPMD and the pathology of OPMD.",

author = "Becher, \{Mark W.\} and Kotzuk, \{Joyce A.\} and Davis, \{Larry E.\} and Bear, \{David G.\}",

year = "2000",

doi = "10.1002/1531-8249(200011)48:5<812::AID-ANA20>3.0.CO;2-2",

language = "English (US)",

volume = "48",

pages = "812--815",

journal = "Annals of Neurology",

issn = "0364-5134",

publisher = "John Wiley \& Sons Inc.",

number = "5",

}

TY - JOUR

T1 - Intranuclear inclusions in oculopharyngeal muscular dystrophy contain poly(A) binding protein 2

AU - Becher, Mark W.

AU - Kotzuk, Joyce A.

AU - Davis, Larry E.

AU - Bear, David G.

PY - 2000

Y1 - 2000

N2 - Intranuclear inclusions are one of the ultrastructural hallmarks of oculopharyngeal muscular dystrophy (OPMD), a disorder caused by small polyalanine (GCG) expansions in the gene that codes for a ubiquitous nuclear protein called poly(A) binding protein 2 (PABP2). We studied OPMD skeletal muscle and found that 1.0 to 10.0% of myocyte nuclei contained discreet PABP2 immunoreactive intranuclear inclusions, providing the first direct evidence of the relation between the proposed gene for OPMD and the pathology of OPMD.

AB - Intranuclear inclusions are one of the ultrastructural hallmarks of oculopharyngeal muscular dystrophy (OPMD), a disorder caused by small polyalanine (GCG) expansions in the gene that codes for a ubiquitous nuclear protein called poly(A) binding protein 2 (PABP2). We studied OPMD skeletal muscle and found that 1.0 to 10.0% of myocyte nuclei contained discreet PABP2 immunoreactive intranuclear inclusions, providing the first direct evidence of the relation between the proposed gene for OPMD and the pathology of OPMD.

UR - https://www.scopus.com/pages/publications/0033764563

UR - https://www.scopus.com/pages/publications/0033764563#tab=citedBy

U2 - 10.1002/1531-8249(200011)48:5<812::AID-ANA20>3.0.CO;2-2

DO - 10.1002/1531-8249(200011)48:5<812::AID-ANA20>3.0.CO;2-2

M3 - Article

C2 - 11079550

AN - SCOPUS:0033764563

SN - 0364-5134

VL - 48

SP - 812

EP - 815

JO - Annals of Neurology

JF - Annals of Neurology

IS - 5

ER -

Intranuclear inclusions in oculopharyngeal muscular dystrophy contain poly(A) binding protein 2

Abstract

ASJC Scopus subject areas

Access to Document

Other files and links

Fingerprint

Cite this