Rare Functional Variant in TM2D3 is Associated with Late-Onset Alzheimer's Disease

10.1371/journal.pgen.1006327

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Main Authors:	Jakobsdottir J., van der Lee S.J., Bis J.C., Chouraki V., Li-Kroeger D., Yamamoto S., Grove M.L., Naj A., Vronskaya M., Salazar J.L., DeStefano A.L., Brody J.A., Smith A.V., Amin N., Sims R., Ibrahim-Verbaas C.A., Choi S.-H., Satizabal C.L., Lopez O.L., Beiser A., Ikram M.A., Garcia M.E., Hayward C., Varga T.V., Ripatti S., Franks P.W., Hallmans G., Rolandsson O., Jansson J.-H., Porteous D.J., Salomaa V., Eiriksdottir G., Rice K.M., Bellen H.J., Levy D., Uitterlinden A.G., Emilsson V., Rotter J.I., Aspelund T., O?Donnell C.J., Fitzpatrick A.L., Launer L.J., Hofman A., Wang L.-S., Williams J., Schellenberg G.D., Boerwinkle E., Psaty B.M., Seshadri S.
Other Authors:	DUKE-NUS MEDICAL SCHOOL
Format:	Article
Published:	2019
Subjects:	amyloid beta protein apolipoprotein E membrane protein Notch receptor presenilin protein SKAP2 protein TM2D3 unclassified drug Amx protein, Drosophila amyloid precursor protein ApoE protein, human Drosophila protein signal peptide src kinase associated phosphoprotein 2 TM2D1 protein, human tropomyosin aged Alzheimer disease Article chromosome 15q controlled study ethnic difference exome female gene gene mutation genetic analysis genetic association genetic susceptibility genetic variability human Icelander major clinical study male molecular pathology nonhuman population based case control study protein structure signal transduction single nucleotide polymorphism TM2D3 gene allele animal Caucasian Drosophila melanogaster genetics genome-wide association study genomics Iceland mutation onset age pathology phenotype Age of Onset Aged Alleles Alzheimer Disease Amyloid beta-Protein Precursor Animals Apolipoproteins E Drosophila Proteins European Continental Ancestry Group Exome Female Genome-Wide Association Study Genomics Humans Intracellular Signaling Peptides and Proteins Male Membrane Proteins Mutation Phenotype Receptors, Notch Tropomyosin
Online Access:	https://scholarbank.nus.edu.sg/handle/10635/161904
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Institution:	National University of Singapore

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spelling	sg-nus-scholar.10635-1619042024-11-14T04:57:07Z Rare Functional Variant in TM2D3 is Associated with Late-Onset Alzheimer's Disease Jakobsdottir J. van der Lee S.J. Bis J.C. Chouraki V. Li-Kroeger D. Yamamoto S. Grove M.L. Naj A. Vronskaya M. Salazar J.L. DeStefano A.L. Brody J.A. Smith A.V. Amin N. Sims R. Ibrahim-Verbaas C.A. Choi S.-H. Satizabal C.L. Lopez O.L. Beiser A. Ikram M.A. Garcia M.E. Hayward C. Varga T.V. Ripatti S. Franks P.W. Hallmans G. Rolandsson O. Jansson J.-H. Porteous D.J. Salomaa V. Eiriksdottir G. Rice K.M. Bellen H.J. Levy D. Uitterlinden A.G. Emilsson V. Rotter J.I. Aspelund T. O?Donnell C.J. Fitzpatrick A.L. Launer L.J. Hofman A. Wang L.-S. Williams J. Schellenberg G.D. Boerwinkle E. Psaty B.M. Seshadri S. DUKE-NUS MEDICAL SCHOOL amyloid beta protein apolipoprotein E membrane protein Notch receptor presenilin protein SKAP2 protein TM2D3 unclassified drug Amx protein, Drosophila amyloid precursor protein ApoE protein, human apolipoprotein E Drosophila protein membrane protein Notch receptor signal peptide src kinase associated phosphoprotein 2 TM2D1 protein, human tropomyosin aged Alzheimer disease Article chromosome 15q controlled study ethnic difference exome female gene gene mutation genetic analysis genetic association genetic susceptibility genetic variability human Icelander major clinical study male molecular pathology nonhuman population based case control study protein structure signal transduction single nucleotide polymorphism TM2D3 gene allele Alzheimer disease animal Caucasian Drosophila melanogaster genetics genome-wide association study genomics Iceland mutation onset age pathology phenotype Age of Onset Aged Alleles Alzheimer Disease Amyloid beta-Protein Precursor Animals Apolipoproteins E Drosophila melanogaster Drosophila Proteins European Continental Ancestry Group Exome Female Genome-Wide Association Study Genomics Humans Iceland Intracellular Signaling Peptides and Proteins Male Membrane Proteins Mutation Phenotype Receptors, Notch Tropomyosin 10.1371/journal.pgen.1006327 PLoS Genetics 12 10 e1006327 2019-11-08T06:46:26Z 2019-11-08T06:46:26Z 2016 Article Jakobsdottir J., van der Lee S.J., Bis J.C., Chouraki V., Li-Kroeger D., Yamamoto S., Grove M.L., Naj A., Vronskaya M., Salazar J.L., DeStefano A.L., Brody J.A., Smith A.V., Amin N., Sims R., Ibrahim-Verbaas C.A., Choi S.-H., Satizabal C.L., Lopez O.L., Beiser A., Ikram M.A., Garcia M.E., Hayward C., Varga T.V., Ripatti S., Franks P.W., Hallmans G., Rolandsson O., Jansson J.-H., Porteous D.J., Salomaa V., Eiriksdottir G., Rice K.M., Bellen H.J., Levy D., Uitterlinden A.G., Emilsson V., Rotter J.I., Aspelund T., O?Donnell C.J., Fitzpatrick A.L., Launer L.J., Hofman A., Wang L.-S., Williams J., Schellenberg G.D., Boerwinkle E., Psaty B.M., Seshadri S. (2016). Rare Functional Variant in TM2D3 is Associated with Late-Onset Alzheimer's Disease. PLoS Genetics 12 (10) : e1006327. ScholarBank@NUS Repository. https://doi.org/10.1371/journal.pgen.1006327 15537390 https://scholarbank.nus.edu.sg/handle/10635/161904 CC0 1.0 Universal http://creativecommons.org/publicdomain/zero/1.0/ Unpaywall 20191101
institution	National University of Singapore
building	NUS Library
continent	Asia
country	Singapore Singapore
content_provider	NUS Library
collection	ScholarBank@NUS
topic	amyloid beta protein apolipoprotein E membrane protein Notch receptor presenilin protein SKAP2 protein TM2D3 unclassified drug Amx protein, Drosophila amyloid precursor protein ApoE protein, human apolipoprotein E Drosophila protein membrane protein Notch receptor signal peptide src kinase associated phosphoprotein 2 TM2D1 protein, human tropomyosin aged Alzheimer disease Article chromosome 15q controlled study ethnic difference exome female gene gene mutation genetic analysis genetic association genetic susceptibility genetic variability human Icelander major clinical study male molecular pathology nonhuman population based case control study protein structure signal transduction single nucleotide polymorphism TM2D3 gene allele Alzheimer disease animal Caucasian Drosophila melanogaster genetics genome-wide association study genomics Iceland mutation onset age pathology phenotype Age of Onset Aged Alleles Alzheimer Disease Amyloid beta-Protein Precursor Animals Apolipoproteins E Drosophila melanogaster Drosophila Proteins European Continental Ancestry Group Exome Female Genome-Wide Association Study Genomics Humans Iceland Intracellular Signaling Peptides and Proteins Male Membrane Proteins Mutation Phenotype Receptors, Notch Tropomyosin
spellingShingle	amyloid beta protein apolipoprotein E membrane protein Notch receptor presenilin protein SKAP2 protein TM2D3 unclassified drug Amx protein, Drosophila amyloid precursor protein ApoE protein, human apolipoprotein E Drosophila protein membrane protein Notch receptor signal peptide src kinase associated phosphoprotein 2 TM2D1 protein, human tropomyosin aged Alzheimer disease Article chromosome 15q controlled study ethnic difference exome female gene gene mutation genetic analysis genetic association genetic susceptibility genetic variability human Icelander major clinical study male molecular pathology nonhuman population based case control study protein structure signal transduction single nucleotide polymorphism TM2D3 gene allele Alzheimer disease animal Caucasian Drosophila melanogaster genetics genome-wide association study genomics Iceland mutation onset age pathology phenotype Age of Onset Aged Alleles Alzheimer Disease Amyloid beta-Protein Precursor Animals Apolipoproteins E Drosophila melanogaster Drosophila Proteins European Continental Ancestry Group Exome Female Genome-Wide Association Study Genomics Humans Iceland Intracellular Signaling Peptides and Proteins Male Membrane Proteins Mutation Phenotype Receptors, Notch Tropomyosin Jakobsdottir J. van der Lee S.J. Bis J.C. Chouraki V. Li-Kroeger D. Yamamoto S. Grove M.L. Naj A. Vronskaya M. Salazar J.L. DeStefano A.L. Brody J.A. Smith A.V. Amin N. Sims R. Ibrahim-Verbaas C.A. Choi S.-H. Satizabal C.L. Lopez O.L. Beiser A. Ikram M.A. Garcia M.E. Hayward C. Varga T.V. Ripatti S. Franks P.W. Hallmans G. Rolandsson O. Jansson J.-H. Porteous D.J. Salomaa V. Eiriksdottir G. Rice K.M. Bellen H.J. Levy D. Uitterlinden A.G. Emilsson V. Rotter J.I. Aspelund T. O?Donnell C.J. Fitzpatrick A.L. Launer L.J. Hofman A. Wang L.-S. Williams J. Schellenberg G.D. Boerwinkle E. Psaty B.M. Seshadri S. Rare Functional Variant in TM2D3 is Associated with Late-Onset Alzheimer's Disease
description	10.1371/journal.pgen.1006327
author2	DUKE-NUS MEDICAL SCHOOL
author_facet	DUKE-NUS MEDICAL SCHOOL Jakobsdottir J. van der Lee S.J. Bis J.C. Chouraki V. Li-Kroeger D. Yamamoto S. Grove M.L. Naj A. Vronskaya M. Salazar J.L. DeStefano A.L. Brody J.A. Smith A.V. Amin N. Sims R. Ibrahim-Verbaas C.A. Choi S.-H. Satizabal C.L. Lopez O.L. Beiser A. Ikram M.A. Garcia M.E. Hayward C. Varga T.V. Ripatti S. Franks P.W. Hallmans G. Rolandsson O. Jansson J.-H. Porteous D.J. Salomaa V. Eiriksdottir G. Rice K.M. Bellen H.J. Levy D. Uitterlinden A.G. Emilsson V. Rotter J.I. Aspelund T. O?Donnell C.J. Fitzpatrick A.L. Launer L.J. Hofman A. Wang L.-S. Williams J. Schellenberg G.D. Boerwinkle E. Psaty B.M. Seshadri S.
format	Article
author	Jakobsdottir J. van der Lee S.J. Bis J.C. Chouraki V. Li-Kroeger D. Yamamoto S. Grove M.L. Naj A. Vronskaya M. Salazar J.L. DeStefano A.L. Brody J.A. Smith A.V. Amin N. Sims R. Ibrahim-Verbaas C.A. Choi S.-H. Satizabal C.L. Lopez O.L. Beiser A. Ikram M.A. Garcia M.E. Hayward C. Varga T.V. Ripatti S. Franks P.W. Hallmans G. Rolandsson O. Jansson J.-H. Porteous D.J. Salomaa V. Eiriksdottir G. Rice K.M. Bellen H.J. Levy D. Uitterlinden A.G. Emilsson V. Rotter J.I. Aspelund T. O?Donnell C.J. Fitzpatrick A.L. Launer L.J. Hofman A. Wang L.-S. Williams J. Schellenberg G.D. Boerwinkle E. Psaty B.M. Seshadri S.
author_sort	Jakobsdottir J.
title	Rare Functional Variant in TM2D3 is Associated with Late-Onset Alzheimer's Disease
title_short	Rare Functional Variant in TM2D3 is Associated with Late-Onset Alzheimer's Disease
title_full	Rare Functional Variant in TM2D3 is Associated with Late-Onset Alzheimer's Disease
title_fullStr	Rare Functional Variant in TM2D3 is Associated with Late-Onset Alzheimer's Disease
title_full_unstemmed	Rare Functional Variant in TM2D3 is Associated with Late-Onset Alzheimer's Disease
title_sort	rare functional variant in tm2d3 is associated with late-onset alzheimer's disease
publishDate	2019
url	https://scholarbank.nus.edu.sg/handle/10635/161904
_version_	1821229422325268480

Rare Functional Variant in TM2D3 is Associated with Late-Onset Alzheimer's Disease

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