Abnormal expression of mu-crystallin in facioscapulohumeral muscular dystrophy.

Abnormal expression of mu-crystallin in facioscapulohumeral muscular dystrophy. Research Abstract Details 

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Abnormal expression of mu-crystallin in facioscapulohumeral muscular dystrophy. Abstract Text:

Patrick W Reed,Andrea M Corse,Neil C Porter,Kevin M Flanigan,Robert J Bloch,

To identify proteins expressed abnormally in facioscapulohumeral muscular dystrophy (FSHD), we extracted soluble proteins from deltoid muscle biopsies from unaffected control and FSHD patients and analyzed them using two-dimensional electrophoresis, mass spectrometry and immunoblotting. Muscles from patients with FSHD showed large increases over controls in a single soluble, 34 kDa protein (pI=5.08) identified by mass spectrometry and immunoblotting as mu-crystallin (CRYM). Soluble fractions of biopsies of several other myopathies and muscular dystrophies showed no appreciable increases in mu-crystallin. Mu-crystallin has thyroid hormone and NADPH binding activity and so may influence differentiation and oxidative stress responses, reported to be altered in FSHD. It is also linked to retinal and inner ear defects, common in FSHD, suggesting that its up-regulation may play a specific and important role in pathogenesis of FSHD.

Abnormal expression of mu-crystallin in facioscapulohumeral muscular dystrophy. Publishing Authors By Initials

PW Reed,AM Corse,NC Porter,KM Flanigan,RJ Bloch,

For similar genetic processes: gene expression regulation: up-regulation research abstracts see: genetic processes: gene expression regulation: up-regulation research

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Abnormal expression of mu-crystallin in facioscapulohumeral muscular dystrophy. Journal Published:

PUBLICATION TYPE: Research Support, Non-U.S. Gov

Journal: Experimental neurology

VOLUME: 205

Page Numbers: 583-6

Journal Abbreviation: Exp. Neurol.

ISSN: 0014-4886

DAY: 21

MONTH: 03

YEAR: 2007

Abnormal expression of mu-crystallin in facioscapulohumeral muscular dystrophy. Information

Number of References:

LANGUAGE: eng

NlmUniqueID: 370712

Abnormal expression of mu-crystallin in facioscapulohumeral muscular dystrophy. Keywords Mesh Terms:

KEYWORDS: Up-Regulation

MESH TERMS: physiology

Chemical & Substance for Abstract: Abnormal expression of mu-crystallin in facioscapulohumeral muscular dystrophy. Information

Substance Name: Coomassie blue

Registry Number: 78642-64-5

Grant and Affiliation Information for Abnormal expression of mu-crystallin in facioscapulohumeral muscular dystrophy.

AFFILIATION: Department of Physiology, University of Maryland School of Medicine, 660 W. Redwood Street, Baltimore, MD 21201, USA.

Country: United States

AGENCY: United States NINDS

GRANT: R21 NS43976

ACRONYM: NS

MEDLINETA: Exp Neurol

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