RPS25 is required for efficient RAN translation of C9orf72 and other neurodegenerative disease-associated nucleotide repeats

Shizuka B. Yamada; Tania F. Gendron; Teresa Niccoli; Naomi R. Genuth; Rosslyn Grosely; Yingxiao Shi; Idoia Glaria; Nicholas J. Kramer; Lisa Nakayama; Shirleen Fang; Tai J.I. Dinger; Annora Thoeng; Gabriel Rocha; Maria Barna; Joseph D. Puglisi; Linda Partridge; Justin K. Ichida; Adrian M. Isaacs; Leonard Petrucelli; Aaron D. Gitler

doi:10.1038/s41593-019-0455-7

RPS25 is required for efficient RAN translation of C9orf72 and other neurodegenerative disease-associated nucleotide repeats

Shizuka B. Yamada, Tania F. Gendron, Teresa Niccoli, Naomi R. Genuth, Rosslyn Grosely, Yingxiao Shi, Idoia Glaria, Nicholas J. Kramer, Lisa Nakayama, Shirleen Fang, Tai J.I. Dinger, Annora Thoeng, Gabriel Rocha, Maria Barna, Joseph D. Puglisi, Linda Partridge, Justin K. Ichida, Adrian M. Isaacs, Leonard Petrucelli, Aaron D. Gitler

Neuroscience

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

32 Scopus citations

Abstract

Nucleotide repeat expansions in the C9orf72 gene are the most common cause of amyotrophic lateral sclerosis and frontotemporal dementia. Unconventional translation (RAN translation) of C9orf72 repeats generates dipeptide repeat proteins that can cause neurodegeneration. We performed a genetic screen for regulators of RAN translation and identified small ribosomal protein subunit 25 (RPS25), presenting a potential therapeutic target for C9orf72-related amyotrophic lateral sclerosis and frontotemporal dementia and other neurodegenerative diseases caused by nucleotide repeat expansions.

Original language	English (US)
Pages (from-to)	1383-1388
Number of pages	6
Journal	Nature Neuroscience
Volume	22
Issue number	9
DOIs	https://doi.org/10.1038/s41593-019-0455-7
State	Published - Sep 1 2019

ASJC Scopus subject areas

General Neuroscience

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Yamada, S. B., Gendron, T. F., Niccoli, T., Genuth, N. R., Grosely, R., Shi, Y., Glaria, I., Kramer, N. J., Nakayama, L., Fang, S., Dinger, T. J. I., Thoeng, A., Rocha, G., Barna, M., Puglisi, J. D., Partridge, L., Ichida, J. K., Isaacs, A. M., Petrucelli, L., & Gitler, A. D. (2019). RPS25 is required for efficient RAN translation of C9orf72 and other neurodegenerative disease-associated nucleotide repeats. Nature Neuroscience, 22(9), 1383-1388. https://doi.org/10.1038/s41593-019-0455-7

Yamada, SB, Gendron, TF, Niccoli, T, Genuth, NR, Grosely, R, Shi, Y, Glaria, I, Kramer, NJ, Nakayama, L, Fang, S, Dinger, TJI, Thoeng, A, Rocha, G, Barna, M, Puglisi, JD, Partridge, L, Ichida, JK, Isaacs, AM, Petrucelli, L & Gitler, AD 2019, 'RPS25 is required for efficient RAN translation of C9orf72 and other neurodegenerative disease-associated nucleotide repeats', Nature Neuroscience, vol. 22, no. 9, pp. 1383-1388. https://doi.org/10.1038/s41593-019-0455-7

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title = "RPS25 is required for efficient RAN translation of C9orf72 and other neurodegenerative disease-associated nucleotide repeats",

abstract = "Nucleotide repeat expansions in the C9orf72 gene are the most common cause of amyotrophic lateral sclerosis and frontotemporal dementia. Unconventional translation (RAN translation) of C9orf72 repeats generates dipeptide repeat proteins that can cause neurodegeneration. We performed a genetic screen for regulators of RAN translation and identified small ribosomal protein subunit 25 (RPS25), presenting a potential therapeutic target for C9orf72-related amyotrophic lateral sclerosis and frontotemporal dementia and other neurodegenerative diseases caused by nucleotide repeat expansions.",

author = "Yamada, {Shizuka B.} and Gendron, {Tania F.} and Teresa Niccoli and Genuth, {Naomi R.} and Rosslyn Grosely and Yingxiao Shi and Idoia Glaria and Kramer, {Nicholas J.} and Lisa Nakayama and Shirleen Fang and Dinger, {Tai J.I.} and Annora Thoeng and Gabriel Rocha and Maria Barna and Puglisi, {Joseph D.} and Linda Partridge and Ichida, {Justin K.} and Isaacs, {Adrian M.} and Leonard Petrucelli and Gitler, {Aaron D.}",

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AU - Gendron, Tania F.

AU - Niccoli, Teresa

AU - Genuth, Naomi R.

AU - Grosely, Rosslyn

AU - Shi, Yingxiao

AU - Glaria, Idoia

AU - Kramer, Nicholas J.

AU - Nakayama, Lisa

AU - Fang, Shirleen

AU - Dinger, Tai J.I.

AU - Thoeng, Annora

AU - Rocha, Gabriel

AU - Barna, Maria

AU - Puglisi, Joseph D.

AU - Partridge, Linda

AU - Ichida, Justin K.

AU - Isaacs, Adrian M.

AU - Petrucelli, Leonard

AU - Gitler, Aaron D.

PY - 2019/9/1

Y1 - 2019/9/1

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AB - Nucleotide repeat expansions in the C9orf72 gene are the most common cause of amyotrophic lateral sclerosis and frontotemporal dementia. Unconventional translation (RAN translation) of C9orf72 repeats generates dipeptide repeat proteins that can cause neurodegeneration. We performed a genetic screen for regulators of RAN translation and identified small ribosomal protein subunit 25 (RPS25), presenting a potential therapeutic target for C9orf72-related amyotrophic lateral sclerosis and frontotemporal dementia and other neurodegenerative diseases caused by nucleotide repeat expansions.

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RPS25 is required for efficient RAN translation of C9orf72 and other neurodegenerative disease-associated nucleotide repeats

Abstract

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