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PMID |
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TITLE |
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Rare coding variants in the phospholipase D3 gene confer risk for Alzheimer's disease. |
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ABSTRACT |
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Genome-wide association studies (GWAS) have identified several risk variants for late-onset Alzheimer's disease (LOAD). These common variants have replicable but small effects on LOAD risk and generally do not have obvious functional effects. Low-frequency coding variants, not detected by GWAS, are predicted to include functional variants with larger effects on risk. To identify low-frequency coding variants with large effects on LOAD risk, we carried out whole-exome sequencing (WES) in 14 large LOAD families and follow-up analyses of the candidate variants in several large LOAD case-control data sets. A rare variant in PLD3 (phospholipase D3; Val232Met) segregated with disease status in two independent families and doubled risk for Alzheimer's disease in seven independent case-control series with a total of more than 11,000 cases and controls of European descent. Gene-based burden analyses in 4,387 cases and controls of European descent and 302 African American cases and controls, with complete sequence data for PLD3, reveal that several variants in this gene increase risk for Alzheimer's disease in both populations. PLD3 is highly expressed in brain regions that are vulnerable to Alzheimer's disease pathology, including hippocampus and cortex, and is expressed at significantly lower levels in neurons from Alzheimer's disease brains compared to control brains. Overexpression of PLD3 leads to a significant decrease in intracellular amyloid-β precursor protein (APP) and extracellular Aβ42 and Aβ40 (the 42- and 40-residue isoforms of the amyloid-β peptide), and knockdown of PLD3 leads to a significant increase in extracellular Aβ42 and Aβ40. Together, our genetic and functional data indicate that carriers of PLD3 coding variants have a twofold increased risk for LOAD and that PLD3 influences APP processing. This study provides an example of how densely affected families may help to identify rare variants with large effects on risk for disease or other complex traits. |
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DATE PUBLISHED |
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HISTORY |
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PUBSTATUS |
PUBSTATUSDATE |
received |
2013/08/07 |
accepted |
2013/10/31 |
aheadofprint |
2013/12/11 |
entrez |
2013/12/17 06:00 |
pubmed |
2013/12/18 06:00 |
medline |
2014/02/05 06:00 |
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AUTHORS |
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NAME |
COLLECTIVENAME |
LASTNAME |
FORENAME |
INITIALS |
AFFILIATION |
AFFILIATIONINFO |
Cruchaga C |
|
Cruchaga |
Carlos |
C |
|
1] Department of Psychiatry, Washington University, 425 South Euclid Avenue, St. Louis, Missouri 63110, USA [2] Hope Center Program on Protein Aggregation and Neurodegeneration, Washington University 425 South Euclid Avenue, St. Louis, Missouri 63110, USA. |
Karch CM |
|
Karch |
Celeste M |
CM |
|
1] Department of Psychiatry, Washington University, 425 South Euclid Avenue, St. Louis, Missouri 63110, USA [2] Hope Center Program on Protein Aggregation and Neurodegeneration, Washington University 425 South Euclid Avenue, St. Louis, Missouri 63110, USA [3]. |
Jin SC |
|
Jin |
Sheng Chih |
SC |
|
1] Department of Psychiatry, Washington University, 425 South Euclid Avenue, St. Louis, Missouri 63110, USA [2]. |
Benitez BA |
|
Benitez |
Bruno A |
BA |
|
Department of Psychiatry, Washington University, 425 South Euclid Avenue, St. Louis, Missouri 63110, USA. |
Cai Y |
|
Cai |
Yefei |
Y |
|
Department of Psychiatry, Washington University, 425 South Euclid Avenue, St. Louis, Missouri 63110, USA. |
Guerreiro R |
|
Guerreiro |
Rita |
R |
|
1] Department of Molecular Neuroscience, UCL Institute of Neurology, Queen Square, London WC1N 3BG, UK [2] Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Building 35 Room 1A1014, 35 Lincoln Drive, Bethesda, Maryland 20892, USA. |
Harari O |
|
Harari |
Oscar |
O |
|
Department of Psychiatry, Washington University, 425 South Euclid Avenue, St. Louis, Missouri 63110, USA. |
Norton J |
|
Norton |
Joanne |
J |
|
Department of Psychiatry, Washington University, 425 South Euclid Avenue, St. Louis, Missouri 63110, USA. |
Budde J |
|
Budde |
John |
J |
|
Department of Psychiatry, Washington University, 425 South Euclid Avenue, St. Louis, Missouri 63110, USA. |
Bertelsen S |
|
Bertelsen |
Sarah |
S |
|
Department of Psychiatry, Washington University, 425 South Euclid Avenue, St. Louis, Missouri 63110, USA. |
Jeng AT |
|
Jeng |
Amanda T |
AT |
|
Department of Psychiatry, Washington University, 425 South Euclid Avenue, St. Louis, Missouri 63110, USA. |
Cooper B |
|
Cooper |
Breanna |
B |
|
Department of Psychiatry, Washington University, 425 South Euclid Avenue, St. Louis, Missouri 63110, USA. |
Skorupa T |
|
Skorupa |
Tara |
T |
|
Department of Psychiatry, Washington University, 425 South Euclid Avenue, St. Louis, Missouri 63110, USA. |
Carrell D |
|
Carrell |
David |
D |
|
Department of Psychiatry, Washington University, 425 South Euclid Avenue, St. Louis, Missouri 63110, USA. |
Levitch D |
|
Levitch |
Denise |
D |
|
Department of Psychiatry, Washington University, 425 South Euclid Avenue, St. Louis, Missouri 63110, USA. |
Hsu S |
|
Hsu |
Simon |
S |
|
Department of Psychiatry, Washington University, 425 South Euclid Avenue, St. Louis, Missouri 63110, USA. |
Choi J |
|
Choi |
Jiyoon |
J |
|
Department of Psychiatry, Washington University, 425 South Euclid Avenue, St. Louis, Missouri 63110, USA. |
Ryten M |
|
Ryten |
Mina |
M |
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Department of Molecular Neuroscience, UCL Institute of Neurology, Queen Square, London WC1N 3BG, UK. |
|
UK Brain Expression Consortium |
|
|
|
|
|
Hardy J |
|
Hardy |
John |
J |
|
Department of Molecular Neuroscience, UCL Institute of Neurology, Queen Square, London WC1N 3BG, UK. |
Ryten M |
|
Ryten |
Mina |
M |
|
Department of Molecular Neuroscience, UCL Institute of Neurology, Queen Square, London WC1N 3BG, UK. |
Trabzuni D |
|
Trabzuni |
Daniah |
D |
|
Department of Molecular Neuroscience, UCL Institute of Neurology, Queen Square, London WC1N 3BG, UK. |
Weale ME |
|
Weale |
Michael E |
ME |
|
Department of Medical and Molecular Genetics, King's College London, 16 De Crespigny Park, London SE5 8AF UK. |
Ramasamy A |
|
Ramasamy |
Adaikalavan |
A |
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Department of Medical and Molecular Genetics, King's College London, 16 De Crespigny Park, London SE5 8AF UK. |
Smith C |
|
Smith |
Colin |
C |
|
MRC Sudden Death Brain Bank Project, University of Edinburgh, South Bridge, Edinburgh EH8 9YL UK. |
Sassi C |
|
Sassi |
Celeste |
C |
|
1] Department of Molecular Neuroscience, UCL Institute of Neurology, Queen Square, London WC1N 3BG, UK [2] Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Building 35 Room 1A1014, 35 Lincoln Drive, Bethesda, Maryland 20892, USA. |
Bras J |
|
Bras |
Jose |
J |
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Department of Molecular Neuroscience, UCL Institute of Neurology, Queen Square, London WC1N 3BG, UK. |
Gibbs JR |
|
Gibbs |
J Raphael |
JR |
|
1] Department of Molecular Neuroscience, UCL Institute of Neurology, Queen Square, London WC1N 3BG, UK [2] Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Building 35 Room 1A1014, 35 Lincoln Drive, Bethesda, Maryland 20892, USA. |
Hernandez DG |
|
Hernandez |
Dena G |
DG |
|
1] Department of Molecular Neuroscience, UCL Institute of Neurology, Queen Square, London WC1N 3BG, UK [2] Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Building 35 Room 1A1014, 35 Lincoln Drive, Bethesda, Maryland 20892, USA. |
Lupton MK |
|
Lupton |
Michelle K |
MK |
|
1] Institute of Psychiatry, King's College London, 16 De Crespigny Park, London SE5 8AF, UK [2] Neuroimaging Genetics, QIMR Berghofer Medical Research Institute, 300 Herston Road, Herston, Queensland 4006, Australia. |
Powell J |
|
Powell |
John |
J |
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Institute of Psychiatry, King's College London, 16 De Crespigny Park, London SE5 8AF, UK. |
Forabosco P |
|
Forabosco |
Paola |
P |
|
Istituto di Genetica delle Popolazioni - CNR, Trav. La Crucca, 3 - Reg. Baldinca - 07100 Li Punti, Sassari, Italy. |
Ridge PG |
|
Ridge |
Perry G |
PG |
|
Department of Biology, Brigham Young University, Provo, Utah 84602, USA. |
Corcoran CD |
|
Corcoran |
Christopher D |
CD |
|
1] Department of Mathematics and Statistics, Utah State University, Logan, Utah 84322, USA [2] Center for Epidemiologic Studies, Utah State University, Logan, Utah 84322, USA. |
Tschanz JT |
|
Tschanz |
Joann T |
JT |
|
1] Center for Epidemiologic Studies, Utah State University, Logan, Utah 84322, USA [2] Department of Psychology, Utah State University, Logan, Utah 84322, USA. |
Norton MC |
|
Norton |
Maria C |
MC |
|
1] Center for Epidemiologic Studies, Utah State University, Logan, Utah 84322, USA [2] Department of Psychology, Utah State University, Logan, Utah 84322, USA [3] Department of Family Consumer and Human Development, Utah State University, Logan, Utah 84322, USA. |
Munger RG |
|
Munger |
Ronald G |
RG |
|
1] Department of Family Consumer and Human Development, Utah State University, Logan, Utah 84322, USA [2] Department of Nutrition, Dietetics, and Food Sciences, Utah State University, Logan, Utah 84322, USA. |
Schmutz C |
|
Schmutz |
Cameron |
C |
|
Department of Biology, Brigham Young University, Provo, Utah 84602, USA. |
Leary M |
|
Leary |
Maegan |
M |
|
Department of Biology, Brigham Young University, Provo, Utah 84602, USA. |
Demirci FY |
|
Demirci |
F Yesim |
FY |
|
Department of Human Genetics, University of Pittsburgh, 130 Desoto Street, Pittsburgh, Pennsylvania 15261, USA. |
Bamne MN |
|
Bamne |
Mikhil N |
MN |
|
Department of Human Genetics, University of Pittsburgh, 130 Desoto Street, Pittsburgh, Pennsylvania 15261, USA. |
Wang X |
|
Wang |
Xingbin |
X |
|
Department of Human Genetics, University of Pittsburgh, 130 Desoto Street, Pittsburgh, Pennsylvania 15261, USA. |
Lopez OL |
|
Lopez |
Oscar L |
OL |
|
1] Alzheimer's Disease Research Center, University of Pittsburgh, 130 Desoto Street, Pittsburgh, Pennsylvania 15261, USA [2] Department of Neurology, University of Pittsburgh, 130 Desoto Street, Pittsburgh, Pennsylvania 15261, USA. |
Ganguli M |
|
Ganguli |
Mary |
M |
|
Department of Psychiatry, University of Pittsburgh, 130 Desoto Street, Pittsburgh, Pennsylvania 15261, USA. |
Medway C |
|
Medway |
Christopher |
C |
|
Human Genetics, School of Molecular Medical Sciences, University of Nottingham, Queen's Medical Centre, Nottingham NG7 2UH, UK. |
Turton J |
|
Turton |
James |
J |
|
Human Genetics, School of Molecular Medical Sciences, University of Nottingham, Queen's Medical Centre, Nottingham NG7 2UH, UK. |
Lord J |
|
Lord |
Jenny |
J |
|
Human Genetics, School of Molecular Medical Sciences, University of Nottingham, Queen's Medical Centre, Nottingham NG7 2UH, UK. |
Braae A |
|
Braae |
Anne |
A |
|
Human Genetics, School of Molecular Medical Sciences, University of Nottingham, Queen's Medical Centre, Nottingham NG7 2UH, UK. |
Barber I |
|
Barber |
Imelda |
I |
|
Human Genetics, School of Molecular Medical Sciences, University of Nottingham, Queen's Medical Centre, Nottingham NG7 2UH, UK. |
Brown K |
|
Brown |
Kristelle |
K |
|
Human Genetics, School of Molecular Medical Sciences, University of Nottingham, Queen's Medical Centre, Nottingham NG7 2UH, UK. |
|
Alzheimer’s Research UK Consortium |
|
|
|
|
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Passmore P |
|
Passmore |
Peter |
P |
|
Queen's University Belfast, University Road, Belfast BT7 1NN, UK. |
Craig D |
|
Craig |
David |
D |
|
Queen's University Belfast, University Road, Belfast BT7 1NN, UK. |
Johnston J |
|
Johnston |
Janet |
J |
|
Queen's University Belfast, University Road, Belfast BT7 1NN, UK. |
McGuinness B |
|
McGuinness |
Bernadette |
B |
|
Queen's University Belfast, University Road, Belfast BT7 1NN, UK. |
Todd S |
|
Todd |
Stephen |
S |
|
Queen's University Belfast, University Road, Belfast BT7 1NN, UK. |
Heun R |
|
Heun |
Reinhard |
R |
|
Royal Derby Hospital, Uttoxeter Road, Derby, DE22 3NE, UK. |
Kölsch H |
|
Kölsch |
Heike |
H |
|
University of Bonn, Regina-Pacis-Weg 3, 53113 Bonn, Germany. |
Kehoe PG |
|
Kehoe |
Patrick G |
PG |
|
University of Bristol, Tyndall Avenue, Bristol, City of Bristol BS8 1TH, UK. |
Hooper NM |
|
Hooper |
Nigel M |
NM |
|
University of Leeds, Woodhouse Lane, Leeds, West Yorkshire LS2 9JT, UK. |
Vardy ER |
|
Vardy |
Emma R L C |
ER |
|
University of Newcastle, Newcastle upon Tyne, Tyne and Wear NE1 7RU, UK. |
Mann DM |
|
Mann |
David M |
DM |
|
University of Manchester, Oxford Road, Manchester, Greater Manchester M13 9PL, UK. |
Pickering-Brown S |
|
Pickering-Brown |
Stuart |
S |
|
University of Manchester, Oxford Road, Manchester, Greater Manchester M13 9PL, UK. |
Brown K |
|
Brown |
Kristelle |
K |
|
Human Genetics, School of Molecular Medical Sciences, University of Nottingham, Queen's Medical Centre, Nottingham NG7 2UH, UK. |
Kalsheker N |
|
Kalsheker |
Noor |
N |
|
Human Genetics, School of Molecular Medical Sciences, University of Nottingham, Queen's Medical Centre, Nottingham NG7 2UH, UK. |
Lowe J |
|
Lowe |
James |
J |
|
Human Genetics, School of Molecular Medical Sciences, University of Nottingham, Queen's Medical Centre, Nottingham NG7 2UH, UK. |
Morgan K |
|
Morgan |
Kevin |
K |
|
Human Genetics, School of Molecular Medical Sciences, University of Nottingham, Queen's Medical Centre, Nottingham NG7 2UH, UK. |
David Smith A |
|
David Smith |
A |
A |
|
University of Oxford (OPTIMA), Wellington Square, Oxford OX1 2JD, UK. |
Wilcock G |
|
Wilcock |
Gordon |
G |
|
University of Oxford (OPTIMA), Wellington Square, Oxford OX1 2JD, UK. |
Warden D |
|
Warden |
Donald |
D |
|
University of Oxford (OPTIMA), Wellington Square, Oxford OX1 2JD, UK. |
Holmes C |
|
Holmes |
Clive |
C |
|
University of Oxford (OPTIMA), Wellington Square, Oxford OX1 2JD, UK. |
Pastor P |
|
Pastor |
Pau |
P |
|
1] Neurogenetics Laboratory, Division of Neurosciences, Center for Applied Medical Research, University of Navarra, Avenida Pío XII, 55. 31008 Pamplona, Navarra, Spain [2] Department of Neurology, Clínica Universidad de Navarra, School of Medicine, University of Navarra Avenida Pío XII, 36. 31008 Pamplona, Spain [3] CIBERNED, Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas, Instituto de Salud Carlos III, Spain. |
Lorenzo-Betancor O |
|
Lorenzo-Betancor |
Oswaldo |
O |
|
Neurogenetics Laboratory, Division of Neurosciences, Center for Applied Medical Research, University of Navarra, Avenida Pío XII, 55. 31008 Pamplona, Navarra, Spain. |
Brkanac Z |
|
Brkanac |
Zoran |
Z |
|
University of Washington, 325 Ninth Avenue, Seattle, Washington 98104-2499, USA. |
Scott E |
|
Scott |
Erick |
E |
|
The Scripps Research Institute, La Jolla, California 3344 North Torrey Pines Court, La Jolla, California 92037, USA. |
Topol E |
|
Topol |
Eric |
E |
|
The Scripps Research Institute, La Jolla, California 3344 North Torrey Pines Court, La Jolla, California 92037, USA. |
Morgan K |
|
Morgan |
Kevin |
K |
|
Human Genetics, School of Molecular Medical Sciences, University of Nottingham, Queen's Medical Centre, Nottingham NG7 2UH, UK. |
Rogaeva E |
|
Rogaeva |
Ekaterina |
E |
|
Tanz Centre for Research in Neurodegenerative Diseases, University of Toronto, 60 Leonard Avenue, Toronto, Ontario M5T 2S8, Canada. |
Singleton AB |
|
Singleton |
Andrew B |
AB |
|
Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Building 35 Room 1A1014, 35 Lincoln Drive, Bethesda, Maryland 20892, USA. |
Hardy J |
|
Hardy |
John |
J |
|
Department of Molecular Neuroscience, UCL Institute of Neurology, Queen Square, London WC1N 3BG, UK. |
Kamboh MI |
|
Kamboh |
M Ilyas |
MI |
|
1] Department of Human Genetics, University of Pittsburgh, 130 Desoto Street, Pittsburgh, Pennsylvania 15261, USA [2] Alzheimer's Disease Research Center, University of Pittsburgh, 130 Desoto Street, Pittsburgh, Pennsylvania 15261, USA [3] Department of Neurology, University of Pittsburgh, 130 Desoto Street, Pittsburgh, Pennsylvania 15261, USA. |
St George-Hyslop P |
|
St George-Hyslop |
Peter |
P |
|
1] Tanz Centre for Research in Neurodegenerative Diseases, University of Toronto, 60 Leonard Avenue, Toronto, Ontario M5T 2S8, Canada [2] Cambridge Institute for Medical Research, and the Department of Clinical Neurosciences, University of Cambridge, Hills Road, Cambridge CB2 0XY, UK. |
Cairns N |
|
Cairns |
Nigel |
N |
|
1] Hope Center Program on Protein Aggregation and Neurodegeneration, Washington University 425 South Euclid Avenue, St. Louis, Missouri 63110, USA [2] Pathology and Immunology, Washington University, 425 South Euclid Avenue, St. Louis, Missouri 63110, USA. |
Morris JC |
|
Morris |
John C |
JC |
|
1] Pathology and Immunology, Washington University, 425 South Euclid Avenue, St. Louis, Missouri 63110, USA [2] Department of Neurology, Washington University, 425 South Euclid Avenue, St. Louis, Missouri 63110, USA [3] Knight ADRC, Washington University, 425 South Euclid Avenue, St. Louis, Missouri 63110, USA. |
Kauwe JS |
|
Kauwe |
John S K |
JS |
|
Department of Biology, Brigham Young University, Provo, Utah 84602, USA. |
Goate AM |
|
Goate |
Alison M |
AM |
|
1] Department of Psychiatry, Washington University, 425 South Euclid Avenue, St. Louis, Missouri 63110, USA [2] Hope Center Program on Protein Aggregation and Neurodegeneration, Washington University 425 South Euclid Avenue, St. Louis, Missouri 63110, USA [3] Department of Neurology, Washington University, 425 South Euclid Avenue, St. Louis, Missouri 63110, USA [4] Knight ADRC, Washington University, 425 South Euclid Avenue, St. Louis, Missouri 63110, USA [5] Department of Genetics, Washington University, 425 South Euclid Avenue, St. Louis, Missouri 63110, USA. |
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INVESTIGATORS |
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JOURNAL |
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VOLUME: 505 |
ISSUE: 7484 |
TITLE: Nature |
ISOABBREVIATION: Nature |
YEAR: 2014 |
MONTH: Jan |
DAY: 23 |
MEDLINEDATE: |
SEASON: |
CITEDMEDIUM: Internet |
ISSN: 1476-4687 |
ISSNTYPE: Electronic |
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MEDLINE JOURNAL |
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MEDLINETA: Nature |
COUNTRY: England |
ISSNLINKING: 0028-0836 |
NLMUNIQUEID: 0410462 |
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PUBLICATION TYPE |
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PUBLICATIONTYPE TEXT |
Journal Article |
Research Support, N.I.H., Extramural |
Research Support, Non-U.S. Gov't |
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COMMENTS AND CORRECTIONS |
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REFTYPE |
REFSOURCE |
REFPMID |
NOTE |
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GRANTS |
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GRANTID |
AGENCY |
COUNTRY |
081864 |
Wellcome Trust |
United Kingdom |
089698 |
Wellcome Trust |
United Kingdom |
089703 |
Wellcome Trust |
United Kingdom |
100140 |
Wellcome Trust |
United Kingdom |
1R01AG041797 |
NIA NIH HHS |
United States |
5U24AG026395 |
NIA NIH HHS |
United States |
AG005133 |
NIA NIH HHS |
United States |
AG023652 |
NIA NIH HHS |
United States |
AG030653 |
NIA NIH HHS |
United States |
AG041718 |
NIA NIH HHS |
United States |
AG07562 |
NIA NIH HHS |
United States |
G0802189 |
Medical Research Council |
United Kingdom |
G0802462 |
Medical Research Council |
United Kingdom |
G0901254 |
Medical Research Council |
United Kingdom |
G1100695 |
Medical Research Council |
United Kingdom |
K01 AG046374 |
NIA NIH HHS |
United States |
MC_G1000734 |
Medical Research Council |
United Kingdom |
MC_G1000735 |
Medical Research Council |
United Kingdom |
NIH P50 AG05681 |
NIA NIH HHS |
United States |
NIH R01039700 |
PHS HHS |
United States |
P01 AG003991 |
NIA NIH HHS |
United States |
P01 AG026276 |
NIA NIH HHS |
United States |
P01 AG026276 |
NIA NIH HHS |
United States |
P01 AG03991 |
NIA NIH HHS |
United States |
P30 NS069329 |
NINDS NIH HHS |
United States |
P30-NS069329 |
NINDS NIH HHS |
United States |
P50 AG005133 |
NIA NIH HHS |
United States |
P50 AG005681 |
NIA NIH HHS |
United States |
R01 AG011380 |
NIA NIH HHS |
United States |
R01 AG030653 |
NIA NIH HHS |
United States |
R01 AG035083 |
NIA NIH HHS |
United States |
R01 AG039700 |
NIA NIH HHS |
United States |
R01 AG041718 |
NIA NIH HHS |
United States |
R01 AG041797 |
NIA NIH HHS |
United States |
R01 AG042611 |
NIA NIH HHS |
United States |
R01 AG044546 |
NIA NIH HHS |
United States |
R01-AG035083 |
NIA NIH HHS |
United States |
R01-AG042611 |
NIA NIH HHS |
United States |
R01-AG044546 |
NIA NIH HHS |
United States |
R01-AG11380 |
NIA NIH HHS |
United States |
R01-AG18712 |
NIA NIH HHS |
United States |
R01-AG21136 |
NIA NIH HHS |
United States |
R01AG21136 |
NIA NIH HHS |
United States |
R25 DA027995 |
NIDA NIH HHS |
United States |
U24 AG021886 |
NIA NIH HHS |
United States |
U24 AG026395 |
NIA NIH HHS |
United States |
U24AG21886 |
NIA NIH HHS |
United States |
WT089698 |
Wellcome Trust |
United Kingdom |
ZIA AG000950-11 |
Intramural NIH HHS |
United States |
ZO1 AG000950-10 |
NIA NIH HHS |
United States |
ZO1AG000950-11 |
NIA NIH HHS |
United States |
|
Canadian Institutes of Health Research |
Canada |
|
GENERAL NOTE |
|
|
KEYWORDS |
|
|
MESH HEADINGS |
|
DESCRIPTORNAME |
QUALIFIERNAME |
African Americans |
genetics |
Age of Onset |
genetics |
Aged |
genetics |
Aged, 80 and over |
genetics |
Alzheimer Disease |
metabolism |
Amyloid beta-Peptides |
metabolism |
Amyloid beta-Protein Precursor |
metabolism |
Brain |
metabolism |
Case-Control Studies |
metabolism |
Europe |
ethnology |
Exome |
genetics |
Female |
genetics |
Genetic Predisposition to Disease |
genetics |
Genetic Variation |
genetics |
Humans |
genetics |
Male |
genetics |
Peptide Fragments |
metabolism |
Phospholipase D |
metabolism |
Protein Processing, Post-Translational |
genetics |
Proteolysis |
genetics |
|
SUPPLEMENTARY MESH |
|
|
GENE SYMBOLS |
|
|
CHEMICALS |
|
REGISTRYNUMBER |
NAMEOFSUBSTANCE |
0 |
APP protein, human |
0 |
Amyloid beta-Peptides |
0 |
Amyloid beta-Protein Precursor |
0 |
Peptide Fragments |
0 |
amyloid beta-protein (1-40) |
0 |
amyloid beta-protein (1-42) |
EC 3.1.4.4 |
Phospholipase D |
EC 3.1.4.4 |
phospholipase D3, human |
|
OTHER ID's |
|
OTHERID |
SOURCE |
NIHMS578392 |
NLM |
PMC4050701 |
NLM |
|
|