Mutations affecting the cytoplasmic functions of the co-chaperone DNAJB6 cause limb-girdle muscular dystrophy

Jaakko Sarparanta, Per Harald Jonson, Christelle Golzio, Satu Sandell, Helena Luque, Mark Screen, Kristin McDonald, Jeffrey M. Stajich, Ibrahim Mahjneh, Anna Vihola, Olayinka Raheem, Sini Penttila, Sara Lehtinen, Sanna Huovinen, Johanna Palmio, Giorgio Tasca, Enzo Ricci, Peter Hackman, Michael Hauser, Nicholas KatsanisBjarne Udd

Research output: Contribution to journalArticleScientificpeer-review

Original languageEnglish
JournalNature Genetics
Volume44
Issue number4
Pages (from-to)450-U136
Number of pages8
ISSN1061-4036
DOIs
Publication statusPublished - 2012
MoE publication typeA1 Journal article-refereed

Fields of Science

  • T-CELLS
  • PROTEIN
  • MRJ
  • FAMILY
  • HSP70
  • IDENTIFICATION
  • AGGREGATION
  • SPECIFICITY
  • HUNTINGTIN
  • AUTOPHAGY
  • 3111 Biomedicine

Cite this

Sarparanta, Jaakko ; Jonson, Per Harald ; Golzio, Christelle ; Sandell, Satu ; Luque, Helena ; Screen, Mark ; McDonald, Kristin ; Stajich, Jeffrey M. ; Mahjneh, Ibrahim ; Vihola, Anna ; Raheem, Olayinka ; Penttila, Sini ; Lehtinen, Sara ; Huovinen, Sanna ; Palmio, Johanna ; Tasca, Giorgio ; Ricci, Enzo ; Hackman, Peter ; Hauser, Michael ; Katsanis, Nicholas ; Udd, Bjarne. / Mutations affecting the cytoplasmic functions of the co-chaperone DNAJB6 cause limb-girdle muscular dystrophy. In: Nature Genetics. 2012 ; Vol. 44, No. 4. pp. 450-U136.
@article{b122fdda5e4e41e7836bf108c0ecdfa9,
title = "Mutations affecting the cytoplasmic functions of the co-chaperone DNAJB6 cause limb-girdle muscular dystrophy",
keywords = "T-CELLS, PROTEIN, MRJ, FAMILY, HSP70, IDENTIFICATION, AGGREGATION, SPECIFICITY, HUNTINGTIN, AUTOPHAGY, 3111 Biomedicine",
author = "Jaakko Sarparanta and Jonson, {Per Harald} and Christelle Golzio and Satu Sandell and Helena Luque and Mark Screen and Kristin McDonald and Stajich, {Jeffrey M.} and Ibrahim Mahjneh and Anna Vihola and Olayinka Raheem and Sini Penttila and Sara Lehtinen and Sanna Huovinen and Johanna Palmio and Giorgio Tasca and Enzo Ricci and Peter Hackman and Michael Hauser and Nicholas Katsanis and Bjarne Udd",
year = "2012",
doi = "10.1038/ng.1103",
language = "English",
volume = "44",
pages = "450--U136",
journal = "Nature Genetics",
issn = "1061-4036",
publisher = "Nature Publishing Group",
number = "4",

}

Sarparanta, J, Jonson, PH, Golzio, C, Sandell, S, Luque, H, Screen, M, McDonald, K, Stajich, JM, Mahjneh, I, Vihola, A, Raheem, O, Penttila, S, Lehtinen, S, Huovinen, S, Palmio, J, Tasca, G, Ricci, E, Hackman, P, Hauser, M, Katsanis, N & Udd, B 2012, 'Mutations affecting the cytoplasmic functions of the co-chaperone DNAJB6 cause limb-girdle muscular dystrophy', Nature Genetics, vol. 44, no. 4, pp. 450-U136. https://doi.org/10.1038/ng.1103

Mutations affecting the cytoplasmic functions of the co-chaperone DNAJB6 cause limb-girdle muscular dystrophy. / Sarparanta, Jaakko; Jonson, Per Harald; Golzio, Christelle; Sandell, Satu; Luque, Helena; Screen, Mark; McDonald, Kristin; Stajich, Jeffrey M.; Mahjneh, Ibrahim; Vihola, Anna; Raheem, Olayinka; Penttila, Sini; Lehtinen, Sara; Huovinen, Sanna; Palmio, Johanna; Tasca, Giorgio; Ricci, Enzo; Hackman, Peter; Hauser, Michael; Katsanis, Nicholas; Udd, Bjarne.

In: Nature Genetics, Vol. 44, No. 4, 2012, p. 450-U136.

Research output: Contribution to journalArticleScientificpeer-review

TY - JOUR

T1 - Mutations affecting the cytoplasmic functions of the co-chaperone DNAJB6 cause limb-girdle muscular dystrophy

AU - Sarparanta, Jaakko

AU - Jonson, Per Harald

AU - Golzio, Christelle

AU - Sandell, Satu

AU - Luque, Helena

AU - Screen, Mark

AU - McDonald, Kristin

AU - Stajich, Jeffrey M.

AU - Mahjneh, Ibrahim

AU - Vihola, Anna

AU - Raheem, Olayinka

AU - Penttila, Sini

AU - Lehtinen, Sara

AU - Huovinen, Sanna

AU - Palmio, Johanna

AU - Tasca, Giorgio

AU - Ricci, Enzo

AU - Hackman, Peter

AU - Hauser, Michael

AU - Katsanis, Nicholas

AU - Udd, Bjarne

PY - 2012

Y1 - 2012

KW - T-CELLS

KW - PROTEIN

KW - MRJ

KW - FAMILY

KW - HSP70

KW - IDENTIFICATION

KW - AGGREGATION

KW - SPECIFICITY

KW - HUNTINGTIN

KW - AUTOPHAGY

KW - 3111 Biomedicine

U2 - 10.1038/ng.1103

DO - 10.1038/ng.1103

M3 - Article

VL - 44

SP - 450-U136

JO - Nature Genetics

JF - Nature Genetics

SN - 1061-4036

IS - 4

ER -