A dystroglycan mutation (p.Cys667Phe) associated to muscle-eye-brain disease with multicystic leucodystrophy results in ER-retention of the mutant protein-Reference-Cited by-同舟云学术

A dystroglycan mutation (p.Cys667Phe) associated to muscle-eye-brain disease with multicystic leucodystrophy results in ER-retention of the mutant protein

Published:2017-12-07 Issue:2 Volume:39 Page:266-280
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Signorino Giulia¹,Covaceuszach Sonia²^ORCID,Bozzi Manuela¹³,Hübner Wolfgang⁴,Mönkemöller Viola⁴,Konarev Petr V.⁵,Cassetta Alberto²,Brancaccio Andrea³⁶^ORCID,Sciandra Francesca³^ORCID

Affiliation:

1. Istituto di Biochimica e Biochimica Clinica; Università Cattolica del Sacro Cuore; Roma Italy

2. Istituto di Cristallografia - CNR; Trieste Outstation; Trieste Italy

3. Istituto di Chimica del Riconoscimento Molecolare - CNR c/o Istituto di Biochimica e Biochimica Clinica, Università Cattolica del Sacro Cuore; Roma Italy

4. Biomolecular Photonics; University of Bielefeld; Bielefeld Germany

5. A.V. Shubnikov Institute of Crystallography of Federal Scientific Research Centre “Crystallography and Photonics” of Russian Academy of Sciences, Leninsky prospect 59; Moscow Russia

6. School of Biochemistry; University of Bristol; Bristol United Kingdom

Funder

Association Française contre les Myopathies

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/humu.23370/fullpdf

Reference65 articles.

1. SEA domain proteolysis determines the functional composition of dystroglycan;Akhavan;FASEB Journal,2008

2. Biochemical characterization of MLC1 protein in astrocytes and its association with the dystrophin-glycoprotein complex;Ambrosini;Molecular and Cellular Neuroscience,2008