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Frontotemporal dementia caused by CHMP2B mutations

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Isaacs, AM, Johannsen, P, Holm, I, Nielsen, JE & FReJA consortium 2011, 'Frontotemporal dementia caused by CHMP2B mutations', Current Alzheimer Research, bind 8, nr. 3, s. 246-51.

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Isaacs, A M ; Johannsen, P ; Holm, I ; Nielsen, J E ; FReJA consortium. / Frontotemporal dementia caused by CHMP2B mutations. I: Current Alzheimer Research. 2011 ; Bind 8, Nr. 3. s. 246-51.

Bibtex

@article{252fe2af1bce45f6978d50e1fb9347aa,
title = "Frontotemporal dementia caused by CHMP2B mutations",
abstract = "CHMP2B mutations are a rare cause of autosomal dominant frontotemporal dementia (FTD). The best studied example is frontotemporal dementia linked to chromosome 3 (FTD-3) which occurs in a large Danish family, with a further CHMP2B mutation identified in an unrelated Belgian familial FTD patient. These mutations lead to C-terminal truncations of the CHMP2B protein and we will review recent advances in our understanding of the molecular effects of these mutant truncated proteins on vesicular fusion events within the endosome-lysosome and autophagy degradation pathways. We will also review the clinical features of FTD caused by CHMP2B truncation mutations as well as new brain imaging and neuropathological findings. Finally, we collate the current data on CHMP2B missense mutations, which have been reported in FTD and motor neuron disease.",
keywords = "Amino Acid Sequence, Endosomal Sorting Complexes Required for Transport, Frontotemporal Dementia, Humans, Molecular Sequence Data, Mutation",
author = "Isaacs, {A M} and P Johannsen and I Holm and Nielsen, {J E} and {FReJA consortium}",
year = "2011",
language = "English",
volume = "8",
pages = "246--51",
journal = "Current Alzheimer Research",
issn = "1567-2050",
publisher = "Bentham Science Publishers Ltd",
number = "3",

}

RIS

TY - JOUR

T1 - Frontotemporal dementia caused by CHMP2B mutations

AU - Isaacs, A M

AU - Johannsen, P

AU - Holm, I

AU - Nielsen, J E

AU - FReJA consortium

PY - 2011

Y1 - 2011

N2 - CHMP2B mutations are a rare cause of autosomal dominant frontotemporal dementia (FTD). The best studied example is frontotemporal dementia linked to chromosome 3 (FTD-3) which occurs in a large Danish family, with a further CHMP2B mutation identified in an unrelated Belgian familial FTD patient. These mutations lead to C-terminal truncations of the CHMP2B protein and we will review recent advances in our understanding of the molecular effects of these mutant truncated proteins on vesicular fusion events within the endosome-lysosome and autophagy degradation pathways. We will also review the clinical features of FTD caused by CHMP2B truncation mutations as well as new brain imaging and neuropathological findings. Finally, we collate the current data on CHMP2B missense mutations, which have been reported in FTD and motor neuron disease.

AB - CHMP2B mutations are a rare cause of autosomal dominant frontotemporal dementia (FTD). The best studied example is frontotemporal dementia linked to chromosome 3 (FTD-3) which occurs in a large Danish family, with a further CHMP2B mutation identified in an unrelated Belgian familial FTD patient. These mutations lead to C-terminal truncations of the CHMP2B protein and we will review recent advances in our understanding of the molecular effects of these mutant truncated proteins on vesicular fusion events within the endosome-lysosome and autophagy degradation pathways. We will also review the clinical features of FTD caused by CHMP2B truncation mutations as well as new brain imaging and neuropathological findings. Finally, we collate the current data on CHMP2B missense mutations, which have been reported in FTD and motor neuron disease.

KW - Amino Acid Sequence

KW - Endosomal Sorting Complexes Required for Transport

KW - Frontotemporal Dementia

KW - Humans

KW - Molecular Sequence Data

KW - Mutation

M3 - Journal article

C2 - 21222599

VL - 8

SP - 246

EP - 251

JO - Current Alzheimer Research

JF - Current Alzheimer Research

SN - 1567-2050

IS - 3

ER -

ID: 33210970