Journal ArticleDOI
Plectin deficiency results in muscular dystrophy with epidermolysis bullosa
Fjd Smith,Robin A.J. Eady,Irene M. Leigh,James R. McMillan,E.L. Rugg,David P. Kelsell,Stephen P. Bryant,Nigel K. Spurr,J.F. Geddes,G. Kirtschig,G. Milana,A.G. de Bono,Katsushi Owaribe,Gerhard Wiche,Leena Pulkkinen,Jouni Uitto,Whi McLean,E. B. Lane +17 more
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TLDR
It is reported that mutation in the gene for plectin, a cytoskeleton–membrane anchorage protein, is a cause of autosomal recessive muscular dystrophy associated with skin blistering associated withepidermolysis bullosa simplex.Abstract:
We report that mutation in the gene for plectin, a cytoskeleton–membrane anchorage protein, is a cause of autosomal recessive muscular dystrophy associated with skin blistering (epidermolysis bullosa simplex). The evidence comes from absence of plectin by antibody staining in affected individuals from four families, supportive genetic analysis (localization of the human plectin gene to chromosome 8q24.13–qter and evidence for disease segregation with markers in this region) and finally the identification of a homozygous frameshift mutation detected in plectin cDNA. Absence of the large multifunctional cytoskeleton protein plectin can simultaneously account for structural failure in both muscle and skin.read more
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A census of human RNA-binding proteins.
TL;DR: This work presents a census of 1,542 manually curated RBPs that are analysed for their interactions with different classes of RNA, their evolutionary conservation, their abundance and their tissue-specific expression, a critical step towards the comprehensive characterization of proteins involved in human RNA metabolism.
Journal ArticleDOI
A Structural Scaffolding of Intermediate Filaments in Health and Disease
Elaine Fuchs,Don W. Cleveland +1 more
TL;DR: Evidence is reviewed here that intermediate filaments provide a flexible intracellular scaffolding whose function is to structure cytoplasm and to resist stresses externally applied to the cell.
Journal ArticleDOI
The classification of inherited epidermolysis bullosa (EB): Report of the Third International Consensus Meeting on Diagnosis and Classification of EB.
Jo-David Fine,Robin A.J. Eady,Eugene A. Bauer,Johann W. Bauer,Leena Bruckner-Tuderman,A.H.M. Heagerty,Helmut Hintner,Alain Hovnanian,Marcel F. Jonkman,Irene M. Leigh,John A. McGrath,Jemima E. Mellerio,Jemima E. Mellerio,Dedee F. Murrell,Hiroshi Shimizu,Jouni Uitto,Anders Vahlquist,David T. Woodley,Giovanna Zambruno +18 more
TL;DR: A revised classification system that takes into account the new advances, as well as encompassing other inherited diseases that should also be included within the EB spectrum, based on the presence of blistering and mechanical fragility is presented.
Journal ArticleDOI
Structure and Function of Hemidesmosomes: More Than Simple Adhesion Complexes
Luca Borradori,Arnoud Sonnenberg +1 more
TL;DR: The aims of this review are to highlight the recent progresses of knowledge on the organization and assembly of hemidesmosomes, their involvement in signaling pathways as well as their participation in clinical pathologic conditions.
Journal ArticleDOI
Molecular basis of muscular dystrophies.
Ronald D. Cohn,Kevin P. Campbell +1 more
TL;DR: A large number of genes involved in muscular dystrophy encode components of the dystrophin‐glycoprotein complex (DGC) which normally links the intracellular cytoskeleton to the extracellular matrix, which is thought to lead to loss of sarcolemmal integrity and render muscle fibers more susceptible to damage.
References
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Journal ArticleDOI
par-1, a Gene Required for Establishing Polarity in C. Elegans Embryos, Encodes a Putative Ser/Thr Kinase That Is Asymmetrically Distributed
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TL;DR: It is reported here that par-1 encodes a putative Ser/Thr kinase with similarity to kinases from yeasts and mammals, suggesting that kinase activity is essential for par-2 function and in establishing embryonic polarity.