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 Katsanis; Bjarne Udd

doi:10.1038/ng.1103

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 journal › Article › Scientific › peer-review

Original language	English
Journal	Nature Genetics
Volume	44
Issue number	4
Pages (from-to)	450-U136
Number of pages	8
ISSN	1061-4036
DOIs	https://doi.org/10.1038/ng.1103
Publication status	Published - 2012
MoE publication type	A1 Journal article-refereed

Fields of Science

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

Access to Document

10.1038/ng.1103

Cite this

Sarparanta, J., Jonson, P. H., Golzio, C., Sandell, S., Luque, H., Screen, M., McDonald, K., Stajich, J. M., Mahjneh, I., Vihola, A., Raheem, O., Penttila, S., Lehtinen, S., Huovinen, S., Palmio, J., Tasca, G., Ricci, E., Hackman, P., Hauser, M., ... Udd, B. (2012). Mutations affecting the cytoplasmic functions of the co-chaperone DNAJB6 cause limb-girdle muscular dystrophy. Nature Genetics, 44(4), 450-U136. https://doi.org/10.1038/ng.1103

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 journal › Article › Scientific › peer-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 -