Literature DB >> 1519480

Dystrophin or a "related protein" in Duchenne muscular dystrophy?

L V Nicholson1, M A Johnson, K Davison, E O'Donnell, G Falkous, M Barron, J B Harris.   

Abstract

Previously we have shown low levels of dystrophin immunoreactivity in muscle from patients with DMD. According to the "frame-shift hypothesis" DMD muscle should not synthesize any dystrophin through to the C-terminus and it has been suggested that the protein detected is not dystrophin, but a related autosomal homologue. We have labelled serial sections of DMD muscle with specific monoclonal antibodies to the amino, rod and C-terminal domains of dystrophin and find labelling on the same individual fibres, allowing us to conclude that the protein detected is Xp21-encoded dystrophin. This has an impact on the interpretation of myoblast transfer experiments. The abundance (on blots) of "C-terminal dystrophin" appears lower than "rod dystrophin" in both BMD and DMD.

Entities:  

Mesh:

Substances:

Year:  1992        PMID: 1519480     DOI: 10.1111/j.1600-0404.1992.tb08046.x

Source DB:  PubMed          Journal:  Acta Neurol Scand        ISSN: 0001-6314            Impact factor:   3.209


  16 in total

Review 1.  Genetic and clinical correlations of Xp21 muscular dystrophy.

Authors:  K M Bushby
Journal:  J Inherit Metab Dis       Date:  1992       Impact factor: 4.982

2.  The effects of glucocorticoid therapy on the inflammatory and dendritic cells in muscular dystrophies.

Authors:  Mahmoud R Hussein; Sherifa A Hamed; Mohammed G Mostafa; Eman E Abu-Dief; Nageh Fouly Kamel; Mahmoud R Kandil
Journal:  Int J Exp Pathol       Date:  2006-12       Impact factor: 1.925

3.  Differential expression of dystrophin isoforms and utrophin during dibutyryl-cAMP-induced morphological differentiation of rat brain astrocytes.

Authors:  M Imamura; E Ozawa
Journal:  Proc Natl Acad Sci U S A       Date:  1998-05-26       Impact factor: 11.205

4.  Expression of agrin, dystroglycan, and utrophin in normal renal tissue and in experimental glomerulopathies.

Authors:  C J Raats; J van den Born; M A Bakker; B Oppers-Walgreen; B J Pisa; H B Dijkman; K J Assmann; J H Berden
Journal:  Am J Pathol       Date:  2000-05       Impact factor: 4.307

5.  Functional significance of dystrophin positive fibres in Duchenne muscular dystrophy.

Authors:  L V Nicholson; M A Johnson; K M Bushby; D Gardner-Medwin
Journal:  Arch Dis Child       Date:  1993-05       Impact factor: 3.791

6.  Exon skipping and translation in patients with frameshift deletions in the dystrophin gene.

Authors:  T G Sherratt; T Vulliamy; V Dubowitz; C A Sewry; P N Strong
Journal:  Am J Hum Genet       Date:  1993-11       Impact factor: 11.025

7.  Predicted and observed sizes of dystrophin in some patients with gene deletions that disrupt the open reading frame.

Authors:  L V Nicholson; K M Bushby; M A Johnson; J T den Dunnen; I B Ginjaar; G J van Ommen
Journal:  J Med Genet       Date:  1992-12       Impact factor: 6.318

8.  The clinical, genetic and dystrophin characteristics of Becker muscular dystrophy. II. Correlation of phenotype with genetic and protein abnormalities.

Authors:  K M Bushby; D Gardner-Medwin; L V Nicholson; M A Johnson; I D Haggerty; N J Cleghorn; J B Harris; S S Bhattacharya
Journal:  J Neurol       Date:  1993-02       Impact factor: 4.849

9.  Sarcoglycan complex is selectively lost in dystrophic hamster muscle.

Authors:  Y Mizuno; S Noguchi; H Yamamoto; M Yoshida; I Nonaka; S Hirai; E Ozawa
Journal:  Am J Pathol       Date:  1995-02       Impact factor: 4.307

10.  Deletions in the 5' region of dystrophin and resulting phenotypes.

Authors:  F Muntoni; P Gobbi; C Sewry; T Sherratt; J Taylor; S K Sandhu; S Abbs; R Roberts; S V Hodgson; M Bobrow
Journal:  J Med Genet       Date:  1994-11       Impact factor: 6.318

View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.