TIA1 variant drives myodegeneration in multisystem proteinopathy with SQSTM1 mutations

YouJin Lee; Per Harald Jonson; Jaakko Sarparanta; Johanna Palmio; Mohona Sarkar; Anna Vihola; Anni Evilä; Tiina Suominen; Sini Penttila; Marco Savarese; Mridul Johari; Marie-Christine Minot; David Hilton-Jones; Paul Maddison; Patrick Chinnery; Jens Reimann; Cornelia Kornblum; Torsten Kraya; Stephan Zierz; Carolyn Sue; Hans Goebel; Asim Azfer; Stuart H. Ralston; Peter Hackman; Robert C. Bucelli; J. Paul Taylor; Conrad C. Weihl; Bjarne Udd

doi:10.1172/JCI97103

TIA1 variant drives myodegeneration in multisystem proteinopathy with SQSTM1 mutations

YouJin Lee, Per Harald Jonson, Jaakko Sarparanta, Johanna Palmio, Mohona Sarkar, Anna Vihola, Anni Evilä, Tiina Suominen, Sini Penttila, Marco Savarese, Mridul Johari, Marie-Christine Minot, David Hilton-Jones, Paul Maddison, Patrick Chinnery, Jens Reimann, Cornelia Kornblum, Torsten Kraya, Stephan Zierz, Carolyn SueHans Goebel, Asim Azfer, Stuart H. Ralston, Peter Hackman, Robert C. Bucelli, J. Paul Taylor, Conrad C. Weihl, Bjarne Udd

Forskningsoutput: Tidskriftsbidrag › Artikel › Vetenskaplig › Peer review

Originalspråk	engelska
Tidskrift	Journal of Clinical Investigation
Volym	128
Nummer	3
Sidor (från-till)	1164-1177
Antal sidor	14
ISSN	0021-9738
DOI	https://doi.org/10.1172/JCI97103
Status	Publicerad - 1 mars 2018
MoE-publikationstyp	A1 Tidskriftsartikel-refererad

Vetenskapsgrenar

3111 Biomedicinska vetenskaper

Åtkomst av dokument

10.1172/JCI97103

Citera det här

Lee, Y., Jonson, P. H., Sarparanta, J., Palmio, J., Sarkar, M., Vihola, A., Evilä, A., Suominen, T., Penttila, S., Savarese, M., Johari, M., Minot, M-C., Hilton-Jones, D., Maddison, P., Chinnery, P., Reimann, J., Kornblum, C., Kraya, T., Zierz, S., ... Udd, B. (2018). TIA1 variant drives myodegeneration in multisystem proteinopathy with SQSTM1 mutations. Journal of Clinical Investigation, 128(3), 1164-1177. https://doi.org/10.1172/JCI97103

@article{b8bfaea5751f428a80f163cdead67597,

title = "TIA1 variant drives myodegeneration in multisystem proteinopathy with SQSTM1 mutations",

keywords = "AMYOTROPHIC-LATERAL-SCLEROSIS, VALOSIN-CONTAINING PROTEIN, INCLUSION-BODY MYOPATHY, SPORADIC PAGETS-DISEASE, FRONTOTEMPORAL DEMENTIA, STRESS GRANULES, PHASE-SEPARATION, BONE, AUTOPHAGY, TDP-43, 3111 Biomedicine",

author = "YouJin Lee and Jonson, {Per Harald} and Jaakko Sarparanta and Johanna Palmio and Mohona Sarkar and Anna Vihola and Anni Evil{\"a} and Tiina Suominen and Sini Penttila and Marco Savarese and Mridul Johari and Marie-Christine Minot and David Hilton-Jones and Paul Maddison and Patrick Chinnery and Jens Reimann and Cornelia Kornblum and Torsten Kraya and Stephan Zierz and Carolyn Sue and Hans Goebel and Asim Azfer and Ralston, {Stuart H.} and Peter Hackman and Bucelli, {Robert C.} and Taylor, {J. Paul} and Weihl, {Conrad C.} and Bjarne Udd",

year = "2018",

month = mar,

day = "1",

doi = "10.1172/JCI97103",

language = "English",

volume = "128",

pages = "1164--1177",

journal = "Journal of Clinical Investigation",

issn = "0021-9738",

publisher = "AMERICAN SOCIETY FOR CLINICAL INVESTIGATION",

number = "3",

}

Lee, Y, Jonson, PH, Sarparanta, J, Palmio, J, Sarkar, M, Vihola, A, Evilä, A, Suominen, T, Penttila, S, Savarese, M , Johari, M, Minot, M-C, Hilton-Jones, D, Maddison, P, Chinnery, P, Reimann, J, Kornblum, C, Kraya, T, Zierz, S, Sue, C, Goebel, H, Azfer, A, Ralston, SH, Hackman, P, Bucelli, RC, Taylor, JP, Weihl, CC & Udd, B 2018, 'TIA1 variant drives myodegeneration in multisystem proteinopathy with SQSTM1 mutations', Journal of Clinical Investigation, vol. 128, nr. 3, s. 1164-1177. https://doi.org/10.1172/JCI97103

TY - JOUR

T1 - TIA1 variant drives myodegeneration in multisystem proteinopathy with SQSTM1 mutations

AU - Lee, YouJin

AU - Jonson, Per Harald

AU - Sarparanta, Jaakko

AU - Palmio, Johanna

AU - Sarkar, Mohona

AU - Vihola, Anna

AU - Evilä, Anni

AU - Suominen, Tiina

AU - Penttila, Sini

AU - Savarese, Marco

AU - Johari, Mridul

AU - Minot, Marie-Christine

AU - Hilton-Jones, David

AU - Maddison, Paul

AU - Chinnery, Patrick

AU - Reimann, Jens

AU - Kornblum, Cornelia

AU - Kraya, Torsten

AU - Zierz, Stephan

AU - Sue, Carolyn

AU - Goebel, Hans

AU - Azfer, Asim

AU - Ralston, Stuart H.

AU - Hackman, Peter

AU - Bucelli, Robert C.

AU - Taylor, J. Paul

AU - Weihl, Conrad C.

AU - Udd, Bjarne

PY - 2018/3/1

Y1 - 2018/3/1

KW - AMYOTROPHIC-LATERAL-SCLEROSIS

KW - VALOSIN-CONTAINING PROTEIN

KW - INCLUSION-BODY MYOPATHY

KW - SPORADIC PAGETS-DISEASE

KW - FRONTOTEMPORAL DEMENTIA

KW - STRESS GRANULES

KW - PHASE-SEPARATION

KW - BONE

KW - AUTOPHAGY

KW - TDP-43

KW - 3111 Biomedicine

U2 - 10.1172/JCI97103

DO - 10.1172/JCI97103

M3 - Article

VL - 128

SP - 1164

EP - 1177

JO - Journal of Clinical Investigation

JF - Journal of Clinical Investigation

SN - 0021-9738

IS - 3

ER -