Mutations affecting the cytoplasmic functions of the co-chaperone DNAJB6 cause limb-girdle muscular...
Mutations affecting the cytoplasmic functions of the co-chaperone DNAJB6 cause limb-girdle muscular dystrophy
About this item
Full title
Author / Creator
Sarparanta, Jaakko , Jonson, Per Harald , Golzio, Christelle , Sandell, Satu , Luque, Helena , Screen, Mark , McDonald, Kristin , Stajich, Jeffrey M , Mahjneh, Ibrahim , Vihola, Anna , Raheem, Olayinka , Penttilä, Sini , Lehtinen, Sara , Huovinen, Sanna , Palmio, Johanna , Tasca, Giorgio , Ricci, Enzo , Hackman, Peter , Hauser, Michael , Katsanis, Nicholas and Udd, Bjarne
Publisher
New York: Nature Publishing Group US
Journal title
Language
English
Formats
Publication information
Publisher
New York: Nature Publishing Group US
Subjects
More information
Scope and Contents
Contents
Bjarne Udd and colleagues show that mutations affecting the cytoplasmic functions of the co-chaperone DNAJB6 result in limb-girdle muscular dystrophy. Their studies suggest that the mutations reduce the protective anti-aggregation effects of DNAJB6, leading to protein accumulation and autophagic pathology.
Limb-girdle muscular dystrophy type 1D...
Alternative Titles
Full title
Mutations affecting the cytoplasmic functions of the co-chaperone DNAJB6 cause limb-girdle muscular dystrophy
Authors, Artists and Contributors
Author / Creator
Jonson, Per Harald
Golzio, Christelle
Sandell, Satu
Luque, Helena
Screen, Mark
McDonald, Kristin
Stajich, Jeffrey M
Mahjneh, Ibrahim
Vihola, Anna
Raheem, Olayinka
Penttilä, Sini
Lehtinen, Sara
Huovinen, Sanna
Palmio, Johanna
Tasca, Giorgio
Ricci, Enzo
Hackman, Peter
Hauser, Michael
Katsanis, Nicholas
Udd, Bjarne
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_3315599
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_3315599
Other Identifiers
ISSN
1061-4036
E-ISSN
1546-1718
DOI
10.1038/ng.1103
