ATAXIN-2 intermediate-length polyglutamine expansions elicit ALS-associated metabolic and immune phenotypes

Renata Vieira de Sá; Emma Sudria-Lopez; Marta Cañizares Luna; Oliver Harschnitz; Dianne M A van den Heuvel; Sandra Kling; Danielle Vonk; Henk-Jan Westeneng; Henk Karst; Lauri Bloemenkamp; Suzy Varderidou-Minasian; Domino K Schlegel; Mayte Mars; Mark H Broekhoven; Nicky C H van Kronenburg; Youri Adolfs; Vamshidhar R Vangoor; Rianne de Jongh; Tijana Ljubikj; Lianne Peeters; Sabine Seeler; Enric Mocholi; Onur Basak; David Gordon; Fabrizio Giuliani; Tessa Verhoeff; Giel Korsten; Teresa Calafat Pla; Morten T Venø; Jørgen Kjems; Kevin Talbot; Michael A van Es; Jan H Veldink; Leonard H van den Berg; Pavol Zelina; R Jeroen Pasterkamp

doi:10.1038/s41467-024-51676-0

ATAXIN-2 intermediate-length polyglutamine expansions elicit ALS-associated metabolic and immune phenotypes

Renata Vieira de Sá
, Emma Sudria-Lopez
, Marta Cañizares Luna
, Oliver Harschnitz
, Dianne M A van den Heuvel
, Sandra Kling
, Danielle Vonk
, Henk-Jan Westeneng
, Henk Karst
, Lauri Bloemenkamp
, Suzy Varderidou-Minasian
, Domino K Schlegel
, Mayte Mars
, Mark H Broekhoven
, Nicky C H van Kronenburg
, Youri Adolfs
, Vamshidhar R Vangoor
, Rianne de Jongh
, Tijana Ljubikj
, Lianne Peeters

Sabine Seeler, Enric Mocholi, Onur Basak, David Gordon, Fabrizio Giuliani, Tessa Verhoeff, Giel Korsten, Teresa Calafat Pla, Morten T Venø, Jørgen Kjems, Kevin Talbot, Michael A van Es, Jan H Veldink, Leonard H van den Berg, Pavol Zelina, R Jeroen Pasterkamp^*

^*Corresponding author for this work

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

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Abstract

Intermediate-length repeat expansions in ATXN-2 are the strongest genetic risk factor for ALS. Here, the authors combine patient-derived motor neurons and organoids with mouse models to dissect the pathogenic effects of ATXN2 intermediate expansions.

Original language	English
Article number	7484
Journal	Nature Communications
Volume	15
Issue number	1
DOIs	https://doi.org/10.1038/s41467-024-51676-0
Publication status	Published - 29 Aug 2024

Keywords

Amyotrophic Lateral Sclerosis/genetics
Animals
Ataxin-2/genetics
DNA-Binding Proteins/genetics
Disease Models, Animal
Female
Humans
Induced Pluripotent Stem Cells/metabolism
Male
Mice
Mice, Transgenic
Mitochondria/metabolism
Motor Neurons/metabolism
Neurites/metabolism
Peptides/metabolism
Phenotype

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Vieira de Sá, R., Sudria-Lopez, E., Cañizares Luna, M., Harschnitz, O., van den Heuvel, D. M. A., Kling, S., Vonk, D., Westeneng, H.-J., Karst, H., Bloemenkamp, L., Varderidou-Minasian, S., Schlegel, D. K., Mars, M., Broekhoven, M. H., van Kronenburg, N. C. H., Adolfs, Y., Vangoor, V. R., de Jongh, R., Ljubikj, T., ... Pasterkamp, R. J. (2024). ATAXIN-2 intermediate-length polyglutamine expansions elicit ALS-associated metabolic and immune phenotypes. Nature Communications, 15(1), Article 7484. https://doi.org/10.1038/s41467-024-51676-0

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title = "ATAXIN-2 intermediate-length polyglutamine expansions elicit ALS-associated metabolic and immune phenotypes",

abstract = "Intermediate-length repeat expansions in ATXN-2 are the strongest genetic risk factor for ALS. Here, the authors combine patient-derived motor neurons and organoids with mouse models to dissect the pathogenic effects of ATXN2 intermediate expansions.",

keywords = "Amyotrophic Lateral Sclerosis/genetics, Animals, Ataxin-2/genetics, DNA-Binding Proteins/genetics, Disease Models, Animal, Female, Humans, Induced Pluripotent Stem Cells/metabolism, Male, Mice, Mice, Transgenic, Mitochondria/metabolism, Motor Neurons/metabolism, Neurites/metabolism, Peptides/metabolism, Phenotype",

author = "\{Vieira de S{\'a}\}, Renata and Emma Sudria-Lopez and \{Ca{\~n}izares Luna\}, Marta and Oliver Harschnitz and \{van den Heuvel\}, \{Dianne M A\} and Sandra Kling and Danielle Vonk and Henk-Jan Westeneng and Henk Karst and Lauri Bloemenkamp and Suzy Varderidou-Minasian and Schlegel, \{Domino K\} and Mayte Mars and Broekhoven, \{Mark H\} and \{van Kronenburg\}, \{Nicky C H\} and Youri Adolfs and Vangoor, \{Vamshidhar R\} and \{de Jongh\}, Rianne and Tijana Ljubikj and Lianne Peeters and Sabine Seeler and Enric Mocholi and Onur Basak and David Gordon and Fabrizio Giuliani and Tessa Verhoeff and Giel Korsten and \{Calafat Pla\}, Teresa and Ven{\o}, \{Morten T\} and J{\o}rgen Kjems and Kevin Talbot and \{van Es\}, \{Michael A\} and Veldink, \{Jan H\} and \{van den Berg\}, \{Leonard H\} and Pavol Zelina and Pasterkamp, \{R Jeroen\}",

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year = "2024",

month = aug,

day = "29",

doi = "10.1038/s41467-024-51676-0",

language = "English",

volume = "15",

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Vieira de Sá, R, Sudria-Lopez, E, Cañizares Luna, M, Harschnitz, O, van den Heuvel, DMA, Kling, S, Vonk, D, Westeneng, H-J, Karst, H, Bloemenkamp, L, Varderidou-Minasian, S, Schlegel, DK, Mars, M, Broekhoven, MH, van Kronenburg, NCH, Adolfs, Y, Vangoor, VR , de Jongh, R, Ljubikj, T, Peeters, L, Seeler, S, Mocholi, E , Basak, O, Gordon, D, Giuliani, F, Verhoeff, T, Korsten, G, Calafat Pla, T, Venø, MT, Kjems, J, Talbot, K, van Es, MA , Veldink, JH , van den Berg, LH, Zelina, P & Pasterkamp, RJ 2024, 'ATAXIN-2 intermediate-length polyglutamine expansions elicit ALS-associated metabolic and immune phenotypes', Nature Communications, vol. 15, no. 1, 7484. https://doi.org/10.1038/s41467-024-51676-0

TY - JOUR

T1 - ATAXIN-2 intermediate-length polyglutamine expansions elicit ALS-associated metabolic and immune phenotypes

AU - Vieira de Sá, Renata

AU - Sudria-Lopez, Emma

AU - Cañizares Luna, Marta

AU - Harschnitz, Oliver

AU - van den Heuvel, Dianne M A

AU - Kling, Sandra

AU - Vonk, Danielle

AU - Westeneng, Henk-Jan

AU - Karst, Henk

AU - Bloemenkamp, Lauri

AU - Varderidou-Minasian, Suzy

AU - Schlegel, Domino K

AU - Mars, Mayte

AU - Broekhoven, Mark H

AU - van Kronenburg, Nicky C H

AU - Adolfs, Youri

AU - Vangoor, Vamshidhar R

AU - de Jongh, Rianne

AU - Ljubikj, Tijana

AU - Peeters, Lianne

AU - Seeler, Sabine

AU - Mocholi, Enric

AU - Basak, Onur

AU - Gordon, David

AU - Giuliani, Fabrizio

AU - Verhoeff, Tessa

AU - Korsten, Giel

AU - Calafat Pla, Teresa

AU - Venø, Morten T

AU - Kjems, Jørgen

AU - Talbot, Kevin

AU - van Es, Michael A

AU - Veldink, Jan H

AU - van den Berg, Leonard H

AU - Zelina, Pavol

AU - Pasterkamp, R Jeroen

PY - 2024/8/29

Y1 - 2024/8/29

N2 - Intermediate-length repeat expansions in ATXN-2 are the strongest genetic risk factor for ALS. Here, the authors combine patient-derived motor neurons and organoids with mouse models to dissect the pathogenic effects of ATXN2 intermediate expansions.

AB - Intermediate-length repeat expansions in ATXN-2 are the strongest genetic risk factor for ALS. Here, the authors combine patient-derived motor neurons and organoids with mouse models to dissect the pathogenic effects of ATXN2 intermediate expansions.

KW - Amyotrophic Lateral Sclerosis/genetics

KW - Animals

KW - Ataxin-2/genetics

KW - DNA-Binding Proteins/genetics

KW - Disease Models, Animal

KW - Female

KW - Humans

KW - Induced Pluripotent Stem Cells/metabolism

KW - Male

KW - Mice

KW - Mice, Transgenic

KW - Mitochondria/metabolism

KW - Motor Neurons/metabolism

KW - Neurites/metabolism

KW - Peptides/metabolism

KW - Phenotype

UR - https://www.scopus.com/pages/publications/85202874205

U2 - 10.1038/s41467-024-51676-0

DO - 10.1038/s41467-024-51676-0

M3 - Article

C2 - 39209824

SN - 2041-1723

VL - 15

JO - Nature Communications

JF - Nature Communications

IS - 1

M1 - 7484

ER -

ATAXIN-2 intermediate-length polyglutamine expansions elicit ALS-associated metabolic and immune phenotypes

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