Mutations in the endosomal ESCRTIII-complex subunit CHMP2B in frontotemporal dementia

G Skibinski; NJ Parkinson; JM Brown; L Chakrabarti; SL Lloyd; H Hummerich; JE Nielsen; JR Hodges; MG Spillantini; T Thusgaard; S Brandner; Arne Brun; MN Rossor; A Gade; P Johannsen; SA Sorensen; S Gydesen; EMC Fisher; J Collinge

doi:10.1038/ng1609

Mutations in the endosomal ESCRTIII-complex subunit CHMP2B in frontotemporal dementia

G Skibinski, NJ Parkinson, JM Brown, L Chakrabarti, SL Lloyd, H Hummerich, JE Nielsen, JR Hodges, MG Spillantini, T Thusgaard, S Brandner, Arne Brun, MN Rossor, A Gade, P Johannsen, SA Sorensen, S Gydesen, EMC Fisher, J Collinge

Tumor microenvironment

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

Abstract

We have previously reported a large Danish pedigree with autosomal dominant frontotemporal dementia (FTD) linked to chromosome 3 (FTD3). Here we identify a mutation in CHMP2B, encoding a component of the endosomal ESCRTIII complex, and show that it results in aberrant mRNA splicing in tissue samples from affected members of this family. We also describe an additional missense mutation in an unrelated individual with FTD. Aberration in the endosomal ESCRTIII complex may result in FTD and neurodegenerative disease.

Original language	English
Pages (from-to)	806-808
Journal	Nature Genetics
Volume	37
Issue number	8
DOIs	https://doi.org/10.1038/ng1609
Publication status	Published - 2005

Bibliographical note

The information about affiliations in this record was updated in December 2015.
The record was previously connected to the following departments: Pathology, (Lund) (013030000)

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Cancer and Oncology

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

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10.1038/ng1609

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Skibinski, G., Parkinson, NJ., Brown, JM., Chakrabarti, L., Lloyd, SL., Hummerich, H., Nielsen, JE., Hodges, JR., Spillantini, MG., Thusgaard, T., Brandner, S., Brun, A., Rossor, MN., Gade, A., Johannsen, P., Sorensen, SA., Gydesen, S., Fisher, EMC., & Collinge, J. (2005). Mutations in the endosomal ESCRTIII-complex subunit CHMP2B in frontotemporal dementia. Nature Genetics, 37(8), 806-808. https://doi.org/10.1038/ng1609

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title = "Mutations in the endosomal ESCRTIII-complex subunit CHMP2B in frontotemporal dementia",

abstract = "We have previously reported a large Danish pedigree with autosomal dominant frontotemporal dementia (FTD) linked to chromosome 3 (FTD3). Here we identify a mutation in CHMP2B, encoding a component of the endosomal ESCRTIII complex, and show that it results in aberrant mRNA splicing in tissue samples from affected members of this family. We also describe an additional missense mutation in an unrelated individual with FTD. Aberration in the endosomal ESCRTIII complex may result in FTD and neurodegenerative disease.",

author = "G Skibinski and NJ Parkinson and JM Brown and L Chakrabarti and SL Lloyd and H Hummerich and JE Nielsen and JR Hodges and MG Spillantini and T Thusgaard and S Brandner and Arne Brun and MN Rossor and A Gade and P Johannsen and SA Sorensen and S Gydesen and EMC Fisher and J Collinge",

note = "The information about affiliations in this record was updated in December 2015. The record was previously connected to the following departments: Pathology, (Lund) (013030000)",

year = "2005",

doi = "10.1038/ng1609",

language = "English",

volume = "37",

pages = "806--808",

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Skibinski, G, Parkinson, NJ, Brown, JM, Chakrabarti, L, Lloyd, SL, Hummerich, H, Nielsen, JE, Hodges, JR, Spillantini, MG, Thusgaard, T, Brandner, S, Brun, A, Rossor, MN, Gade, A, Johannsen, P, Sorensen, SA, Gydesen, S, Fisher, EMC & Collinge, J 2005, 'Mutations in the endosomal ESCRTIII-complex subunit CHMP2B in frontotemporal dementia', Nature Genetics, vol. 37, no. 8, pp. 806-808. https://doi.org/10.1038/ng1609

TY - JOUR

T1 - Mutations in the endosomal ESCRTIII-complex subunit CHMP2B in frontotemporal dementia

AU - Skibinski, G

AU - Parkinson, NJ

AU - Brown, JM

AU - Chakrabarti, L

AU - Lloyd, SL

AU - Hummerich, H

AU - Nielsen, JE

AU - Hodges, JR

AU - Spillantini, MG

AU - Thusgaard, T

AU - Brandner, S

AU - Brun, Arne

AU - Rossor, MN

AU - Gade, A

AU - Johannsen, P

AU - Sorensen, SA

AU - Gydesen, S

AU - Fisher, EMC

AU - Collinge, J

N1 - The information about affiliations in this record was updated in December 2015. The record was previously connected to the following departments: Pathology, (Lund) (013030000)

PY - 2005

Y1 - 2005

N2 - We have previously reported a large Danish pedigree with autosomal dominant frontotemporal dementia (FTD) linked to chromosome 3 (FTD3). Here we identify a mutation in CHMP2B, encoding a component of the endosomal ESCRTIII complex, and show that it results in aberrant mRNA splicing in tissue samples from affected members of this family. We also describe an additional missense mutation in an unrelated individual with FTD. Aberration in the endosomal ESCRTIII complex may result in FTD and neurodegenerative disease.

AB - We have previously reported a large Danish pedigree with autosomal dominant frontotemporal dementia (FTD) linked to chromosome 3 (FTD3). Here we identify a mutation in CHMP2B, encoding a component of the endosomal ESCRTIII complex, and show that it results in aberrant mRNA splicing in tissue samples from affected members of this family. We also describe an additional missense mutation in an unrelated individual with FTD. Aberration in the endosomal ESCRTIII complex may result in FTD and neurodegenerative disease.

U2 - 10.1038/ng1609

DO - 10.1038/ng1609

M3 - Article

SN - 1546-1718

VL - 37

SP - 806

EP - 808

JO - Nature Genetics

JF - Nature Genetics

IS - 8

ER -

Mutations in the endosomal ESCRTIII-complex subunit CHMP2B in frontotemporal dementia

Abstract

Bibliographical note

Subject classification (UKÄ)

UN SDGs

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