Mutations in the vesicular trafficking protein annexin A11 are associated with amyotrophic lateral sclerosis

Bradley N. Smith; Simon D. Topp; Claudia Fallini; Hideki Shibata; Han-Jou Chen; Claire Troakes; Andrew King; Nicola Ticozzi; Kevin P. Kenna; Athina Soragia-Gkazi; Jack W. Miller; Akane Sato; Diana Marques Dias; Maryangel Jeon; Caroline Vance; Chun Hao Wong; Martina de Majo; Wejdan Kattuah; Jacqueline C. Mitchell; Emma L. Scotter; Nicholas W. Parkin; Peter C. Sapp; Matthew Nolan; Peter J. Nestor; Michael Simpson; Michael Weale; Monkel Lek; Frank Baas; J. M. Vianney de Jong; Anneloor L. M. A. ten Asbroek; Alberto Garcia Redondo; Jesús Esteban-Pérez; Cinzia Tiloca; Federico Verde; Stefano Duga; Nigel Leigh; Hardev Pall; Karen E. Morrison; Ammar Al-Chalabi; Pamela J. Shaw; Janine Kirby; Martin R. Turner; Kevin Talbot; Orla Hardiman; Jonathan D. Glass; Jacqueline de Belleroche; Masatoshi Maki; Stephen E. Moss; Christopher Miller; Cinzia Gellera; Antonia Ratti; Safa Al-Sarraj; Robert H. Brown; Vincenzo Silani; John E. Landers; Christopher E. Shaw

doi:https://doi.org/10.1126/scitranslmed.aad9157

Mutations in the vesicular trafficking protein annexin A11 are associated with amyotrophic lateral sclerosis

Bradley N. Smith, Simon D. Topp, Claudia Fallini, Hideki Shibata, Han-Jou Chen, Claire Troakes, Andrew King, Nicola Ticozzi, Kevin P. Kenna, Athina Soragia-Gkazi, Jack W. Miller, Akane Sato, Diana Marques Dias, Maryangel Jeon, Caroline Vance, Chun Hao Wong, Martina de Majo, Wejdan Kattuah, Jacqueline C. Mitchell, Emma L. ScotterNicholas W. Parkin, Peter C. Sapp, Matthew Nolan, Peter J. Nestor, Michael Simpson, Michael Weale, Monkel Lek, Frank Baas, J. M. Vianney de Jong, Anneloor L. M. A. ten Asbroek, Alberto Garcia Redondo, Jesús Esteban-Pérez, Cinzia Tiloca, Federico Verde, Stefano Duga, Nigel Leigh, Hardev Pall, Karen E. Morrison, Ammar Al-Chalabi, Pamela J. Shaw, Janine Kirby, Martin R. Turner, Kevin Talbot, Orla Hardiman, Jonathan D. Glass, Jacqueline de Belleroche, Masatoshi Maki, Stephen E. Moss, Christopher Miller, Cinzia Gellera, Antonia Ratti, Safa Al-Sarraj, Robert H. Brown, Vincenzo Silani, John E. Landers, Christopher E. Shaw

Research output: Contribution to journal › Article › Academic › peer-review

108 Citations (Scopus)

Abstract

ANXA11are associated with ALS and implicate defective intracellular protein trafficking in disease pathogenesis

Original language	English
Pages (from-to)	eaad9157
Journal	Science Translational Medicine
Volume	9
Issue number	388
Early online date	2017
DOIs	https://doi.org/10.1126/scitranslmed.aad9157
Publication status	Published - 2017

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https://doi.org/10.1126/scitranslmed.aad9157

Cite this

Smith, B. N., Topp, S. D., Fallini, C., Shibata, H., Chen, H.-J., Troakes, C., King, A., Ticozzi, N., Kenna, K. P., Soragia-Gkazi, A., Miller, J. W., Sato, A., Dias, D. M., Jeon, M., Vance, C., Wong, C. H., de Majo, M., Kattuah, W., Mitchell, J. C., ... Shaw, C. E. (2017). Mutations in the vesicular trafficking protein annexin A11 are associated with amyotrophic lateral sclerosis. Science Translational Medicine, 9(388), eaad9157. https://doi.org/10.1126/scitranslmed.aad9157

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title = "Mutations in the vesicular trafficking protein annexin A11 are associated with amyotrophic lateral sclerosis",

abstract = "ANXA11are associated with ALS and implicate defective intracellular protein trafficking in disease pathogenesis",

author = "Smith, {Bradley N.} and Topp, {Simon D.} and Claudia Fallini and Hideki Shibata and Han-Jou Chen and Claire Troakes and Andrew King and Nicola Ticozzi and Kenna, {Kevin P.} and Athina Soragia-Gkazi and Miller, {Jack W.} and Akane Sato and Dias, {Diana Marques} and Maryangel Jeon and Caroline Vance and Wong, {Chun Hao} and {de Majo}, Martina and Wejdan Kattuah and Mitchell, {Jacqueline C.} and Scotter, {Emma L.} and Parkin, {Nicholas W.} and Sapp, {Peter C.} and Matthew Nolan and Nestor, {Peter J.} and Michael Simpson and Michael Weale and Monkel Lek and Frank Baas and {Vianney de Jong}, {J. M.} and {ten Asbroek}, {Anneloor L. M. A.} and Redondo, {Alberto Garcia} and Jes{\'u}s Esteban-P{\'e}rez and Cinzia Tiloca and Federico Verde and Stefano Duga and Nigel Leigh and Hardev Pall and Morrison, {Karen E.} and Ammar Al-Chalabi and Shaw, {Pamela J.} and Janine Kirby and Turner, {Martin R.} and Kevin Talbot and Orla Hardiman and Glass, {Jonathan D.} and {de Belleroche}, Jacqueline and Masatoshi Maki and Moss, {Stephen E.} and Christopher Miller and Cinzia Gellera and Antonia Ratti and Safa Al-Sarraj and Brown, {Robert H.} and Vincenzo Silani and Landers, {John E.} and Shaw, {Christopher E.}",

year = "2017",

doi = "https://doi.org/10.1126/scitranslmed.aad9157",

language = "English",

volume = "9",

pages = "eaad9157",

journal = "Science Translational Medicine",

issn = "1946-6242",

publisher = "American Association for the Advancement of Science",

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Smith, BN, Topp, SD, Fallini, C, Shibata, H, Chen, H-J, Troakes, C, King, A, Ticozzi, N, Kenna, KP, Soragia-Gkazi, A, Miller, JW, Sato, A, Dias, DM, Jeon, M, Vance, C, Wong, CH, de Majo, M, Kattuah, W, Mitchell, JC, Scotter, EL, Parkin, NW, Sapp, PC, Nolan, M, Nestor, PJ, Simpson, M, Weale, M, Lek, M, Baas, F, Vianney de Jong, JM, ten Asbroek, ALMA, Redondo, AG, Esteban-Pérez, J, Tiloca, C, Verde, F, Duga, S, Leigh, N, Pall, H, Morrison, KE, Al-Chalabi, A, Shaw, PJ, Kirby, J, Turner, MR, Talbot, K, Hardiman, O, Glass, JD, de Belleroche, J, Maki, M, Moss, SE, Miller, C, Gellera, C, Ratti, A, Al-Sarraj, S, Brown, RH, Silani, V, Landers, JE & Shaw, CE 2017, 'Mutations in the vesicular trafficking protein annexin A11 are associated with amyotrophic lateral sclerosis', Science Translational Medicine, vol. 9, no. 388, pp. eaad9157. https://doi.org/10.1126/scitranslmed.aad9157

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T1 - Mutations in the vesicular trafficking protein annexin A11 are associated with amyotrophic lateral sclerosis

AU - Smith, Bradley N.

AU - Topp, Simon D.

AU - Fallini, Claudia

AU - Shibata, Hideki

AU - Chen, Han-Jou

AU - Troakes, Claire

AU - King, Andrew

AU - Ticozzi, Nicola

AU - Kenna, Kevin P.

AU - Soragia-Gkazi, Athina

AU - Miller, Jack W.

AU - Sato, Akane

AU - Dias, Diana Marques

AU - Jeon, Maryangel

AU - Vance, Caroline

AU - Wong, Chun Hao

AU - de Majo, Martina

AU - Kattuah, Wejdan

AU - Mitchell, Jacqueline C.

AU - Scotter, Emma L.

AU - Parkin, Nicholas W.

AU - Sapp, Peter C.

AU - Nolan, Matthew

AU - Nestor, Peter J.

AU - Simpson, Michael

AU - Weale, Michael

AU - Lek, Monkel

AU - Baas, Frank

AU - Vianney de Jong, J. M.

AU - ten Asbroek, Anneloor L. M. A.

AU - Redondo, Alberto Garcia

AU - Esteban-Pérez, Jesús

AU - Tiloca, Cinzia

AU - Verde, Federico

AU - Duga, Stefano

AU - Leigh, Nigel

AU - Pall, Hardev

AU - Morrison, Karen E.

AU - Al-Chalabi, Ammar

AU - Shaw, Pamela J.

AU - Kirby, Janine

AU - Turner, Martin R.

AU - Talbot, Kevin

AU - Hardiman, Orla

AU - Glass, Jonathan D.

AU - de Belleroche, Jacqueline

AU - Maki, Masatoshi

AU - Moss, Stephen E.

AU - Miller, Christopher

AU - Gellera, Cinzia

AU - Ratti, Antonia

AU - Al-Sarraj, Safa

AU - Brown, Robert H.

AU - Silani, Vincenzo

AU - Landers, John E.

AU - Shaw, Christopher E.

PY - 2017

Y1 - 2017

N2 - ANXA11are associated with ALS and implicate defective intracellular protein trafficking in disease pathogenesis

AB - ANXA11are associated with ALS and implicate defective intracellular protein trafficking in disease pathogenesis

U2 - https://doi.org/10.1126/scitranslmed.aad9157

DO - https://doi.org/10.1126/scitranslmed.aad9157

M3 - Article

C2 - 28469040

SN - 1946-6242

VL - 9

SP - eaad9157

JO - Science Translational Medicine

JF - Science Translational Medicine

IS - 388

ER -