Institut for Biomedicin

Christian Bjerggaard Vægter

An alternative transcript of the Alzheimer's disease risk gene SORL1 encodes a truncated receptor

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An alternative transcript of the Alzheimer's disease risk gene SORL1 encodes a truncated receptor. / Blechingberg, Jenny; Poulsen, Annemarie Svane Aavild; Kjølby, Mads; Monti, Giulia; Allen, Mariet; Ivarsen, Anne Kathrine; Lincoln, Sarah J; Thotakura, Gangadaar; Vægter, Christian B; Ertekin-Taner, Nilüfer; Nykjær, Anders; Andersen, Olav M.

I: Neurobiology of Aging, Bind 71, 11.2018, s. 266.e11-266.e24.

Publikation: Bidrag til tidsskrift/Konferencebidrag i tidsskrift /Bidrag til avisTidsskriftartikelForskningpeer review

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Blechingberg, Jenny ; Poulsen, Annemarie Svane Aavild ; Kjølby, Mads ; Monti, Giulia ; Allen, Mariet ; Ivarsen, Anne Kathrine ; Lincoln, Sarah J ; Thotakura, Gangadaar ; Vægter, Christian B ; Ertekin-Taner, Nilüfer ; Nykjær, Anders ; Andersen, Olav M. / An alternative transcript of the Alzheimer's disease risk gene SORL1 encodes a truncated receptor. I: Neurobiology of Aging. 2018 ; Bind 71. s. 266.e11-266.e24.

Bibtex

@article{3d955febdee5488a8ba4a502eeda8c71,
title = "An alternative transcript of the Alzheimer's disease risk gene SORL1 encodes a truncated receptor",
abstract = "SORL1 encodes a 250-kDa protein named sorLA, a functional sorting receptor for the amyloid precursor protein (APP). Several single nucleotide polymorphisms of the gene SORL1, encoding sorLA, are genetically associated with Alzheimer's disease (AD). In the existing literature, SORL1 is insufficiently described at the transcriptional level, and there is very limited amount of functional data defining different transcripts. We have characterized a SORL1 transcript containing a novel exon 30B. The transcript is expressed in most brain regions with highest expression in the temporal lobe and hippocampus. Exon 30B is spliced to exon 31, leading to a mature transcript that encodes an 829 amino acid sorLA receptor. This receptor variant lacks the binding site for APP and is unlikely to function in APP sorting. This transcript is expressed in equal amounts in the cerebellum from AD and non-AD individuals. Our data describe a transcript that encodes a truncated sorLA receptor, suggesting novel neuronal functions for sorLA and that alternative transcription provides a mechanism for SORL1 activity regulation.",
keywords = "Alternative transcription, Alzheimer's disease risk gene, Exon 30B, SORL1, SorLA",
author = "Jenny Blechingberg and Poulsen, {Annemarie Svane Aavild} and Mads Kj{\o}lby and Giulia Monti and Mariet Allen and Ivarsen, {Anne Kathrine} and Lincoln, {Sarah J} and Gangadaar Thotakura and V{\ae}gter, {Christian B} and Nil{\"u}fer Ertekin-Taner and Anders Nykj{\ae}r and Andersen, {Olav M}",
note = "Copyright {\circledC} 2018 Elsevier Inc. All rights reserved.",
year = "2018",
month = "11",
doi = "10.1016/j.neurobiolaging.2018.06.021",
language = "English",
volume = "71",
pages = "266.e11--266.e24",
journal = "Neurobiology of Aging",
issn = "0197-4580",
publisher = "Elsevier Inc",

}

RIS

TY - JOUR

T1 - An alternative transcript of the Alzheimer's disease risk gene SORL1 encodes a truncated receptor

AU - Blechingberg, Jenny

AU - Poulsen, Annemarie Svane Aavild

AU - Kjølby, Mads

AU - Monti, Giulia

AU - Allen, Mariet

AU - Ivarsen, Anne Kathrine

AU - Lincoln, Sarah J

AU - Thotakura, Gangadaar

AU - Vægter, Christian B

AU - Ertekin-Taner, Nilüfer

AU - Nykjær, Anders

AU - Andersen, Olav M

N1 - Copyright © 2018 Elsevier Inc. All rights reserved.

PY - 2018/11

Y1 - 2018/11

N2 - SORL1 encodes a 250-kDa protein named sorLA, a functional sorting receptor for the amyloid precursor protein (APP). Several single nucleotide polymorphisms of the gene SORL1, encoding sorLA, are genetically associated with Alzheimer's disease (AD). In the existing literature, SORL1 is insufficiently described at the transcriptional level, and there is very limited amount of functional data defining different transcripts. We have characterized a SORL1 transcript containing a novel exon 30B. The transcript is expressed in most brain regions with highest expression in the temporal lobe and hippocampus. Exon 30B is spliced to exon 31, leading to a mature transcript that encodes an 829 amino acid sorLA receptor. This receptor variant lacks the binding site for APP and is unlikely to function in APP sorting. This transcript is expressed in equal amounts in the cerebellum from AD and non-AD individuals. Our data describe a transcript that encodes a truncated sorLA receptor, suggesting novel neuronal functions for sorLA and that alternative transcription provides a mechanism for SORL1 activity regulation.

AB - SORL1 encodes a 250-kDa protein named sorLA, a functional sorting receptor for the amyloid precursor protein (APP). Several single nucleotide polymorphisms of the gene SORL1, encoding sorLA, are genetically associated with Alzheimer's disease (AD). In the existing literature, SORL1 is insufficiently described at the transcriptional level, and there is very limited amount of functional data defining different transcripts. We have characterized a SORL1 transcript containing a novel exon 30B. The transcript is expressed in most brain regions with highest expression in the temporal lobe and hippocampus. Exon 30B is spliced to exon 31, leading to a mature transcript that encodes an 829 amino acid sorLA receptor. This receptor variant lacks the binding site for APP and is unlikely to function in APP sorting. This transcript is expressed in equal amounts in the cerebellum from AD and non-AD individuals. Our data describe a transcript that encodes a truncated sorLA receptor, suggesting novel neuronal functions for sorLA and that alternative transcription provides a mechanism for SORL1 activity regulation.

KW - Alternative transcription

KW - Alzheimer's disease risk gene

KW - Exon 30B

KW - SORL1

KW - SorLA

U2 - 10.1016/j.neurobiolaging.2018.06.021

DO - 10.1016/j.neurobiolaging.2018.06.021

M3 - Journal article

VL - 71

SP - 266.e11-266.e24

JO - Neurobiology of Aging

JF - Neurobiology of Aging

SN - 0197-4580

ER -