Literature DB >> 10377290

Muscular dystrophies: alterations in a limited number of cellular pathways?

D Toniolo1, C Minetti.   

Abstract

Identification of new genes involved in muscle disorders has dramatically changed the traditional clinical classification of the large and heterogeneous group of the muscular dystrophies. Results obtained in recent years by positional candidate cloning have demonstrated the role of the sarcolemma and of the nuclear envelope in normal muscle function and have elucidated molecular pathways perturbed by mutations that lead to muscular dystrophy.

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Year:  1999        PMID: 10377290     DOI: 10.1016/s0959-437x(99)80041-0

Source DB:  PubMed          Journal:  Curr Opin Genet Dev        ISSN: 0959-437X            Impact factor:   5.578


  2 in total

1.  Different mutations in the LMNA gene cause autosomal dominant and autosomal recessive Emery-Dreifuss muscular dystrophy.

Authors:  M Raffaele Di Barletta; E Ricci; G Galluzzi; P Tonali; M Mora; L Morandi; A Romorini; T Voit; K H Orstavik; L Merlini; C Trevisan; V Biancalana; I Housmanowa-Petrusewicz; S Bione; R Ricotti; K Schwartz; G Bonne; D Toniolo
Journal:  Am J Hum Genet       Date:  2000-03-16       Impact factor: 11.025

2.  Indications for a novel muscular dystrophy pathway. gamma-filamin, the muscle-specific filamin isoform, interacts with myotilin.

Authors:  P F van der Ven; S Wiesner; P Salmikangas; D Auerbach; M Himmel; S Kempa; K Hayess; D Pacholsky; A Taivainen; R Schröder; O Carpén; D O Fürst
Journal:  J Cell Biol       Date:  2000-10-16       Impact factor: 10.539

  2 in total

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