THE MOLECULAR AND BIOCHEMICAL BASIS OF DUCHENNE MUSCULAR-DYSTROPHY

被引：64

作者：

ANDERSON, MS ^{[1
]}

KUNKEL, LM ^{[1
]}

机构：

[1] HARVARD UNIV,CHILDRENS HOSP,SCH MED,DIV GENET,BOSTON,MA 02115

来源：

TRENDS IN BIOCHEMICAL SCIENCES | 1992年 / 17卷 / 08期

关键词：

D O I：

10.1016/0968-0004(92)90437-E

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

Duchenne and Becker muscular dystrophy (DMD, BMD) have both been clinically recognized for over 100 years, yet throughout much of that time nothing beyond clinical evaluation and supportive care during the disease course was available to patients. The identification of the molecular basis of DMD/BMD in 19861,2 paved the way for extensive progress toward the understanding, diagnosis and treatment of this disease.

引用

页码：289 / 292

页数：4

共 31 条

[1] HUMAN DYSTROPHIN EXPRESSION IN MDX MICE AFTER INTRAMUSCULAR INJECTION OF DNA CONSTRUCTS [J].

ACSADI, G ;

DICKSON, G ;

LOVE, DR ;

JANI, A ;

WALSH, FS ;

GURUSINGHE, A ;

WOLFF, JA ;

DAVIES, KE .

NATURE, 1991, 352 (6338) :815-818

[2] DYSTROPHIN DIAGNOSIS - COMPARISON OF DYSTROPHIN ABNORMALITIES BY IMMUNOFLUORESCENCE AND IMMUNOBLOT ANALYSES [J].

ARAHATA, K ;

HOFFMAN, EP ;

KUNKEL, LM ;

ISHIURA, S ;

TSUKAHARA, T ;

ISHIHARA, T ;

SUNOHARA, N ;

NONAKA, I ;

OZAWA, E ;

SUGITA, H .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1989, 86 (18) :7154-7158

[3] A NOVEL PRODUCT OF THE DUCHENNE MUSCULAR-DYSTROPHY GENE WHICH GREATLY DIFFERS FROM THE KNOWN ISOFORMS IN ITS STRUCTURE AND TISSUE DISTRIBUTION [J].

BAR, S ;

BARNEA, E ;

LEVY, Z ;

NEUMAN, S ;

YAFFE, D ;

NUDEL, U .

BIOCHEMICAL JOURNAL, 1990, 272 (02) :557-560

[4]

BECKER P E, 1955, Arch Psychiatr Nervenkr Z Gesamte Neurol Psychiatr, V193, P427, DOI 10.1007/BF00343141

[5]

BEGGS AH, 1990, HUM GENET, V86, P45

[6] POSSIBLE INFLUENCES ON THE EXPRESSION OF X-CHROMOSOME-LINKED DYSTROPHIN ABNORMALITIES BY HETEROZYGOSITY FOR AUTOSOMAL RECESSIVE FUKUYAMA CONGENITAL MUSCULAR-DYSTROPHY [J].

BEGGS, AH ;

NEUMANN, PE ;

ARAHATA, K ;

ARIKAWA, E ;

NONAKA, I ;

ANDERSON, MS ;

KUNKEL, LM .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1992, 89 (02) :623-627

[7] DYSTROPHIN IS TRANSCRIBED IN BRAIN FROM A DISTANT UPSTREAM PROMOTER [J].

BOYCE, FM ;

BEGGS, AH ;

FEENER, C ;

KUNKEL, LM .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1991, 88 (04) :1276-1280

[8] A CDNA CLONE FROM THE DUCHENNE BECKER MUSCULAR-DYSTROPHY GENE [J].

BURGHES, AHM ;

LOGAN, C ;

HU, XY ;

BELFALL, B ;

WORTON, RG ;

RAY, PN .

NATURE, 1987, 328 (6129) :434-437

[9] THE SUBCELLULAR-DISTRIBUTION OF DYSTROPHIN IN MOUSE SKELETAL, CARDIAC, AND SMOOTH-MUSCLE [J].

BYERS, TJ ;

KUNKEL, LM ;

WATKINS, SC .

JOURNAL OF CELL BIOLOGY, 1991, 115 (02) :411-421

[10] DELETION SCREENING OF THE DUCHENNE MUSCULAR-DYSTROPHY LOCUS VIA MULTIPLEX DNA AMPLIFICATION [J].

CHAMBERLAIN, JS ;

GIBBS, RA ;

RANIER, JE ;

NGUYEN, PN ;

CASKEY, CT .

NUCLEIC ACIDS RESEARCH, 1988, 16 (23) :11141-11156

← 1 2 3 4 →