Carlos Cruchaga

Summary

Affiliation: Washington University School of Medicine
Country: USA

Publications

  1. pmc Rare variants in APP, PSEN1 and PSEN2 increase risk for AD in late-onset Alzheimer's disease families
    Carlos Cruchaga
    Department of Psychiatry and Hope Center Program on Protein Aggregation and Neurodegeneration, Washington University, St Louis, Missouri, United States of America
    PLoS ONE 7:e31039. 2012
  2. pmc SNPs associated with cerebrospinal fluid phospho-tau levels influence rate of decline in Alzheimer's disease
    Carlos Cruchaga
    Department of Psychiatry, Washington University School of Medicine, St Louis, Missouri, USA
    PLoS Genet 6:e1001101. 2010
  3. pmc Pooled-DNA sequencing identifies novel causative variants in PSEN1, GRN and MAPT in a clinical early-onset and familial Alzheimer's disease Ibero-American cohort
    Sheng Chih Jin
    Department of Psychiatry, Washington University School of Medicine, 660 South Euclid Avenue B8134, St, Louis, MO 63110, USA
    Alzheimers Res Ther 4:34. 2012
  4. pmc GWAS of cerebrospinal fluid tau levels identifies risk variants for Alzheimer's disease
    Carlos Cruchaga
    Department of Psychiatry, Washington University School of Medicine, St Louis, MO 63110, USA
    Neuron 78:256-68. 2013
  5. pmc C9orf72 hexanucleotide repeat expansions in clinical Alzheimer disease
    Matthew Harms
    Department of Neurology, Washington University School of Medicine, St Louis, Missouri, USA
    JAMA Neurol 70:736-41. 2013
  6. ncbi request reprint Rare coding variants in the phospholipase D3 gene confer risk for Alzheimer's disease
    Carlos Cruchaga
    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
    Nature 505:550-4. 2014
  7. pmc Association of TMEM106B gene polymorphism with age at onset in granulin mutation carriers and plasma granulin protein levels
    Carlos Cruchaga
    Department of Psychiatry, Washington University School of Medicine, 660 S Euclid Avenue, St Louis, MO 63110, USA
    Arch Neurol 68:581-6. 2011
  8. pmc The PSEN1, p.E318G variant increases the risk of Alzheimer's disease in APOE-ε4 carriers
    Bruno A Benítez
    Department of Psychiatry, School of Medicine, Washington University, St Louis, Missouri, United States of America
    PLoS Genet 9:e1003685. 2013
  9. pmc Association and expression analyses with single-nucleotide polymorphisms in TOMM40 in Alzheimer disease
    Carlos Cruchaga
    Department of Psychiatry, Washington University School of Medicine, St Louis, MO 63110, USA
    Arch Neurol 68:1013-9. 2011
  10. pmc Cerebrospinal fluid APOE levels: an endophenotype for genetic studies for Alzheimer's disease
    Carlos Cruchaga
    Department of Psychiatry, Washington University School of Medicine, St Louis, MO 63110, USA
    Hum Mol Genet 21:4558-71. 2012

Detail Information

Publications24

  1. pmc Rare variants in APP, PSEN1 and PSEN2 increase risk for AD in late-onset Alzheimer's disease families
    Carlos Cruchaga
    Department of Psychiatry and Hope Center Program on Protein Aggregation and Neurodegeneration, Washington University, St Louis, Missouri, United States of America
    PLoS ONE 7:e31039. 2012
    ..This study clearly demonstrates that rare variants in these genes could explain an important proportion of genetic heritability of AD, which is not detected by GWAS...
  2. pmc SNPs associated with cerebrospinal fluid phospho-tau levels influence rate of decline in Alzheimer's disease
    Carlos Cruchaga
    Department of Psychiatry, Washington University School of Medicine, St Louis, Missouri, USA
    PLoS Genet 6:e1001101. 2010
    ..Finally, we believe genome-wide association studies of CSF tau/ptau(181) levels should identify novel genetic variants which will likely influence rate of progression of AD...
  3. pmc Pooled-DNA sequencing identifies novel causative variants in PSEN1, GRN and MAPT in a clinical early-onset and familial Alzheimer's disease Ibero-American cohort
    Sheng Chih Jin
    Department of Psychiatry, Washington University School of Medicine, 660 South Euclid Avenue B8134, St, Louis, MO 63110, USA
    Alzheimers Res Ther 4:34. 2012
    ..We utilized NGS to identify rare and pathogenic variants in APP, PSEN1, PSEN2, GRN, and MAPT in an Ibero-American cohort...
  4. pmc GWAS of cerebrospinal fluid tau levels identifies risk variants for Alzheimer's disease
    Carlos Cruchaga
    Department of Psychiatry, Washington University School of Medicine, St Louis, MO 63110, USA
    Neuron 78:256-68. 2013
    ..67 × 10⁻⁴, 0.039, 4.86 × 10⁻⁵, respectively) illustrating how this endophenotype-based approach can be used to identify new AD risk loci...
  5. pmc C9orf72 hexanucleotide repeat expansions in clinical Alzheimer disease
    Matthew Harms
    Department of Neurology, Washington University School of Medicine, St Louis, Missouri, USA
    JAMA Neurol 70:736-41. 2013
    ..Hexanucleotide repeat expansions in the chromosome 9 open reading frame 72 (C9orf72) gene underlie a significant fraction of frontotemporal dementia and amyotrophic lateral sclerosis...
  6. ncbi request reprint Rare coding variants in the phospholipase D3 gene confer risk for Alzheimer's disease
    Carlos Cruchaga
    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
    Nature 505:550-4. 2014
    ..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. ..
  7. pmc Association of TMEM106B gene polymorphism with age at onset in granulin mutation carriers and plasma granulin protein levels
    Carlos Cruchaga
    Department of Psychiatry, Washington University School of Medicine, 660 S Euclid Avenue, St Louis, MO 63110, USA
    Arch Neurol 68:581-6. 2011
    ..Rs1990622 (TMEM106B) was identified as a risk factor for frontotemporal lobar degeneration with TAR DNA-binding protein inclusions (FTLD-TDP) in a recent genome-wide association...
  8. pmc The PSEN1, p.E318G variant increases the risk of Alzheimer's disease in APOE-ε4 carriers
    Bruno A Benítez
    Department of Psychiatry, School of Medicine, Washington University, St Louis, Missouri, United States of America
    PLoS Genet 9:e1003685. 2013
    ..We demonstrate that the effect of PSEN1, p.E318G on AD susceptibility is largely dependent on an interaction with APOE-ε4 and mediated by an increased burden of Aβ deposition...
  9. pmc Association and expression analyses with single-nucleotide polymorphisms in TOMM40 in Alzheimer disease
    Carlos Cruchaga
    Department of Psychiatry, Washington University School of Medicine, St Louis, MO 63110, USA
    Arch Neurol 68:1013-9. 2011
    ..The linkage disequilibrium pattern around the APOE gene has made it difficult to determine whether all the association signal is derived from APOE or whether there is an independent signal from a nearby gene...
  10. pmc Cerebrospinal fluid APOE levels: an endophenotype for genetic studies for Alzheimer's disease
    Carlos Cruchaga
    Department of Psychiatry, Washington University School of Medicine, St Louis, MO 63110, USA
    Hum Mol Genet 21:4558-71. 2012
    ..Pathway mining analysis indicated that these nine additional loci are involved in lipid metabolism (P = 4.49 × 10(-9))...
  11. ncbi request reprint Phosphorylated tau-Aβ42 ratio as a continuous trait for biomarker discovery for early-stage Alzheimer's disease in multiplex immunoassay panels of cerebrospinal fluid
    Oscar Harari
    Department of Psychiatry, Washington University School of Medicine, St Louis, Missouri
    Biol Psychiatry 75:723-31. 2014
    ..Cerebrospinal fluid (CSF) biomarkers are a rich source of information that reflect the brain proteome...
  12. pmc Novel progranulin variants do not disrupt progranulin secretion and cleavage
    Celeste M Karch
    Department of Psychiatry and Hope Center for Neurological Disorders, Washington University School of Medicine, St Louis, MO 63110, USA
    Neurobiol Aging 34:2538-40. 2013
    ..However, it remains possible that these variants affect other aspects of PGRN function or represent risk factors for dementia when combined with other modifying genes. ..
  13. pmc Variation in MAPT is associated with cerebrospinal fluid tau levels in the presence of amyloid-beta deposition
    John S K Kauwe
    Department of Psychiatry, Washington University School of Medicine, St Louis, MO 63110, USA
    Proc Natl Acad Sci U S A 105:8050-4. 2008
    ....
  14. pmc Exome-sequencing confirms DNAJC5 mutations as cause of adult neuronal ceroid-lipofuscinosis
    Bruno A Benítez
    Department of Psychiatry, Washington University, St Louis, Missouri, United States of America
    PLoS ONE 6:e26741. 2011
    ....
  15. pmc TREM2 is associated with the risk of Alzheimer's disease in Spanish population
    Bruno A Benítez
    Department of Psychiatry, Washington University School of Medicine, St Louis, MO 63110, USA
    Neurobiol Aging 34:1711.e15-7. 2013
    ..Here, we report the first positive replication study in a Spanish population and confirm that TREM2 rs75932628-T is associated with the risk for AD...
  16. pmc Lack of C9ORF72 coding mutations supports a gain of function for repeat expansions in amyotrophic lateral sclerosis
    Matthew B Harms
    Department of Neurology, Washington University School of Medicine, St Louis, MO, USA
    Neurobiol Aging 34:2234.e13-9. 2013
    ..Finally we also show evidence of somatic instability of the expansion size by Southern blot, with the largest expansions occurring in brain tissue...
  17. pmc Expression of novel Alzheimer's disease risk genes in control and Alzheimer's disease brains
    Celeste M Karch
    Department of Psychiatry and Hope Center for Neurological Disorders, Washington University School of Medicine, St Louis, MO, USA
    PLoS ONE 7:e50976. 2012
    ..These findings suggest that expression of some GWAS genes, namely ABCA7, BIN1, CD33, CLU, CR1 and the MS4A family, are altered in AD brains...
  18. pmc Human apoE isoforms differentially regulate brain amyloid-β peptide clearance
    Joseph M Castellano
    Department of Neurology, Washington University School of Medicine, St Louis, MO 63110, USA
    Sci Transl Med 3:89ra57. 2011
    ..Our results suggest that APOE alleles contribute to AD risk by differentially regulating clearance of Aβ from the brain, suggesting that Aβ clearance pathways may be useful therapeutic targets for AD prevention...
  19. pmc Pathogenic cysteine mutations affect progranulin function and production of mature granulins
    Jun Wang
    Department of Psychiatry, Washington University School of Medicine, St Louis, MO 63110, USA
    J Neurochem 112:1305-15. 2010
    ..Our data suggest that these mutations affect the function of full-length PGRN as well as elastase cleavage of PGRN into GRNs, leading to neurodegeneration...
  20. pmc Parkinson disease is not associated with C9ORF72 repeat expansions
    Matthew B Harms
    Department of Neurology, Washington University School of Medicine, Saint Louis, MO 63110, USA
    Neurobiol Aging 34:1519.e1-2. 2013
    ..Three control subjects were found to be expansion carriers, and no expansions were found among patients, suggesting that C9ORF72 expansions are not a common cause of PD...
  21. ncbi request reprint TREM2 variant p.R47H as a risk factor for sporadic amyotrophic lateral sclerosis
    Janet Cady
    Department of Neurology, Washington University School of Medicine, St Louis, Missouri
    JAMA Neurol 71:449-53. 2014
    ..R47H) in the microglial activating gene TREM2 was found to increase the risk of several neurodegenerative diseases, including Alzheimer disease. Whether the p.R47H variant is a risk factor for ALS is not known...
  22. doi request reprint Missense variant in TREML2 protects against Alzheimer's disease
    Bruno A Benítez
    Department of Psychiatry, Washington University School of Medicine, St Louis, MO, USA
    Neurobiol Aging 35:1510.e19-26. 2014
    ..Additionally, we demonstrate that the protective role of TREML2 in AD is independent of the role of TREM2 gene as a risk factor for AD. ..
  23. pmc TARDBP 3'-UTR variant in autopsy-confirmed frontotemporal lobar degeneration with TDP-43 proteinopathy
    Michael A Gitcho
    Alzheimer s Disease Research Center, Washington University School of Medicine, St Louis, MO 63110, USA
    Acta Neuropathol 118:633-45. 2009
    ..In summary, TARDBP variants may result in clinically and neuropathologically heterogeneous phenotypes linked by a common molecular pathology called TDP-43 proteinopathy...
  24. pmc Risk for nicotine dependence and lung cancer is conferred by mRNA expression levels and amino acid change in CHRNA5
    Jen C Wang
    Department of Psychiatry, Washington University, 660 South Euclid, PO BOX 8134, St Louis, MO 63110, USA
    Hum Mol Genet 18:3125-35. 2009
    ....