Alison Goate

Last updated

Alison Goate
CitizenshipBritish
Education Oxford University (DPhil 1983)
Known forAlzheimer's disease, addiction
Awards Potamkin Prize (1993)
Metlife Foundation Award (1994)
Alzheimer's Association Lifetime Achievement Award (2015)
Rainwater Prize(2022)
Piepenbrock-DZNE Prize (2023)
Scientific career
Fields Neurology, Genetics
Institutions Icahn School of Medicine
Washington University in St. Louis

Alison Mary Goate is the Jean C. and James W. Crystal Professor and Chair of the Department of Genetics and Genomic Sciences and Director of the Loeb Center for Alzheimer's Disease at Icahn School of Medicine at Mount Sinai, New York City. [1] [2] She was previously professor of genetics in psychiatry, professor of genetics, and professor of neurology at Washington University School of Medicine. [3]

Contents

The Goate Lab studies the genetics and molecular bases of Alzheimer's disease, frontotemporal dementia, and alcoholism. [4]

Education and early career

After receiving her undergraduate degree in biochemistry at the University of Bristol (UK) and her graduate training at Oxford University (UK), Goate studied under Professors Theodore Puck, Professor Louis Lim and Dr. John Hardy. She received a Royal Society University Research Fellowship to conduct research at St. Mary's Hospital Medical School in London. [5]

Awards and affiliations

She has received the Potamkin Prize from the American Academy of Neurology (1993), the Zenith Award from the Alzheimer's Association, Senior Investigator Award from the Metropolitan Life Foundation, the St. Louis Academy of Science Innovation Award, Carl and Gerty Cori Faculty Achievement Award at Washington University in St. Louis. (1994), and a Lifetime Achievement Award from the Alzheimer's Association (2015). [6] She is a fellow of the American Association for the Advancement of Science. [1] She also serves on the faculty of the Hope Center for Neurological Disorders [7] and is an elected member of the National Academy of Medicine. [8] Dr. Goate received the Rainwater Prize for Innovation in Neurodegeneration from the Rainwater Charitable Foundation in 2022. [9] Dr. Goate was the first female to be awarded the Piepenbrock-DZNE Prize for Neurodegenerative disease research in 2023. [10]

Research

Goate's research centers on the genetics of Alzheimer's disease and related dementias that led to the development of animal and cellular models and the development of anti-amyloid and anti-tau therapies. She has been the principal investigator on four grants and has co-invented and awarded six patents.

Patents

Grants

Partial list: [17]

Funding Source, Project Title & NumberRole in ProjectDatesDirect Costs
NIH/NIA/Columbia University

National Institute on Aging Alzheimer's Disease Family-Based Study (NIA-AD FBS) U24AG056270 [18]

Subaward PI (MPI)8/1/2022 - 4/30/2027$151,653
NIH/NIA

Neuroprotective Signaling and Transcriptional Pathways in Microglia Associated with Alzheimer’s Disease R01AG072489 [19]

MPI2/1/2022 - 11/30/2026$5,972,363
NIH/NINDS

Uncovering the Genetic Mechanisms of the Chromosome 17q21.31 Tau haplotype on Neurodegeneration Risk in FTD and PSP U54NS123746 [20]

MPI9/1/2021 - 8/31/2026$9,278,441
The JPB Foundation

Integrative approaches to the identification of AD risk genes and novel therapeutics 2023-4265

Principal Investigator9/1/2023 - 8/31/2026$2,250,000
NIH/NIA/Mayo Clinic

Biology and Pathobiology of ApoE in Aging and Alzheimer’s Disease U19AG069701 [21]

Subaward PI (MPI)6/1/2021 - 5/31/2026$1,885,527
Cure Alzheimer's Foundation

Investigating MEF2C transcription factor as therapeutic targets to reprogram pathological microglial states in Alzheimer's disease [22]

Principal Investigator1/14/2024 - 1/13/2026$201,250
Rainwater Charitable Foundation

Using unbiased proteomics to validate iPSC models of FTD-MAPT and discover novel biomarkers

MPI8/1/2023 - 7/31/2025$200,000
NIH/NIA/Massachusetts Institute of Technology

Development of PU.1 Inhibitory Modulators as Novel Therapeutics for Alzheimer’s Disease U01AG066757 [23]

Subaward PI (MPI)5/15/2020 - 4/30/2025$1,364,375
NIH/NIA/Banner Health

APOE in the Predisposition to, Protection from and Prevention of Alzheimer’s Disease R01AG069453 [24]

Subaward PI (MPI)7/1/2020 - 3/31/2025$71,390
NIH/NIA/University of Pennsylvania

Alzheimer’s Disease Genetics Consortium U01AG032984 [25]

Subaward PI3/6/2020 - 8/31/2024$1,021,752
NIH/NINDS/University of Miami

Reducing Disparities in Dementia and VCID Outcomes in a Multicultural Rural Population [26] R01NS101483

Subaward PI4/15/2020 - 3/31/2025$78,593
NIH/NIAAA/SUNY

Collaborative Study on the Genetics of Alcoholism (COGA) U10AA008401 [27]

Subaward PI9/1/2019 - 8/31/2024$2,175,426
M.D. Anderson

Understanding the mechanism of MS4A-dependent AD risk AGR-13139

Principal Investigator8/7/2017 - 8/31/2024$3,562,500
NIH/NIA

Genomic Approach to Identification of Microglial Networks Involved in Alzheimer’s Disease Risk U01AG058635 [28]

Principal Investigator8/1/2018 - 7/31/2024$4,799,685
NIH/NIA/Washington University

DIAN Genetics Core U19AG032438 [29]

Subaward PI and Core Leader7/1/2019 - 6/30/2024$651,291
Rainwater Charitable Foundation

Investigating rare and common mechanisms underlying tauopathy risk

Principal Investigator11/1/2022 - 4/30/2024$230,000

Publications

Semantic Scholar lists 483 publications, 22,943 citations and 1,808 influential citations of Goate's peer-reviewed and original contribution as of 2019. [30]

Partial list:

Related Research Articles

<span class="mw-page-title-main">Tau protein</span> Group of six protein isoforms produced from the MAPT gene

The tau proteins form a group of six highly soluble protein isoforms produced by alternative splicing from the gene MAPT. They have roles primarily in maintaining the stability of microtubules in axons and are abundant in the neurons of the central nervous system (CNS), where the cerebral cortex has the highest abundance. They are less common elsewhere but are also expressed at very low levels in CNS astrocytes and oligodendrocytes.

<span class="mw-page-title-main">Amyloid beta</span> Group of peptides

Amyloid beta denotes peptides of 36–43 amino acids that are the main component of the amyloid plaques found in the brains of people with Alzheimer's disease. The peptides derive from the amyloid-beta precursor protein (APP), which is cleaved by beta secretase and gamma secretase to yield Aβ in a cholesterol-dependent process and substrate presentation. Aβ molecules can aggregate to form flexible soluble oligomers which may exist in several forms. It is now believed that certain misfolded oligomers can induce other Aβ molecules to also take the misfolded oligomeric form, leading to a chain reaction akin to a prion infection. The oligomers are toxic to nerve cells. The other protein implicated in Alzheimer's disease, tau protein, also forms such prion-like misfolded oligomers, and there is some evidence that misfolded Aβ can induce tau to misfold.

<span class="mw-page-title-main">Amyloid-beta precursor protein</span> Mammalian protein found in humans

Amyloid-beta precursor protein (APP) is an integral membrane protein expressed in many tissues and concentrated in the synapses of neurons. It functions as a cell surface receptor and has been implicated as a regulator of synapse formation, neural plasticity, antimicrobial activity, and iron export. It is coded for by the gene APP and regulated by substrate presentation. APP is best known as the precursor molecule whose proteolysis generates amyloid beta (Aβ), a polypeptide containing 37 to 49 amino acid residues, whose amyloid fibrillar form is the primary component of amyloid plaques found in the brains of Alzheimer's disease patients.

<span class="mw-page-title-main">Apolipoprotein E</span> Cholesterol-transporting protein most notably implicated in Alzheimers disease

Apolipoprotein E (Apo-E) is a protein involved in the metabolism of fats in the body of mammals. A subtype is implicated in Alzheimer's disease and cardiovascular diseases. It is encoded in humans by the gene APOE.

<span class="mw-page-title-main">Neurodegenerative disease</span> Central nervous system disease

A neurodegenerative disease is caused by the progressive loss of structure or function of neurons, in the process known as neurodegeneration. Such neuronal damage may ultimately involve cell death. Neurodegenerative diseases include amyotrophic lateral sclerosis, multiple sclerosis, Parkinson's disease, Alzheimer's disease, Huntington's disease, multiple system atrophy, tauopathies, and prion diseases. Neurodegeneration can be found in the brain at many different levels of neuronal circuitry, ranging from molecular to systemic. Because there is no known way to reverse the progressive degeneration of neurons, these diseases are considered to be incurable; however research has shown that the two major contributing factors to neurodegeneration are oxidative stress and inflammation. Biomedical research has revealed many similarities between these diseases at the subcellular level, including atypical protein assemblies and induced cell death. These similarities suggest that therapeutic advances against one neurodegenerative disease might ameliorate other diseases as well.

The biochemistry of Alzheimer's disease, the most common cause of dementia, is not yet very well understood. Alzheimer's disease (AD) has been identified as a proteopathy: a protein misfolding disease due to the accumulation of abnormally folded amyloid beta (Aβ) protein in the brain. Amyloid beta is a short peptide that is an abnormal proteolytic byproduct of the transmembrane protein amyloid-beta precursor protein (APP), whose function is unclear but thought to be involved in neuronal development. The presenilins are components of proteolytic complex involved in APP processing and degradation.

<span class="mw-page-title-main">SORL1</span> Protein-coding gene in the species Homo sapiens

Sortilin-related receptor, L(DLR class) A repeats containing is a protein that in humans is encoded by the SORL1 gene.

<span class="mw-page-title-main">Michael Mullan</span>

Michael Mullan is an English-American researcher in Alzheimer's disease and related neurodegenerative disorders. Mullan was a co-discoverer of genetic causes of Alzheimer's disease. Subsequently, he was a co-inventor on the original patents that covered three mutations in the amyloid precursor protein (APP) gene, a gene which is linked to familial Alzheimer's disease. He also co-authored articles in Nature and Nature Genetics, describing these three genetic errors; he was the senior author on two of those articles. Dr. Mullan co-discovered a specific genetic mutation, which became known as "the Swedish Mutation," because it was originally identified in DNA samples from two Swedish families whose members often developed early-onset Alzheimer's disease. These human genetic mutations were integrated into mouse DNA to create strains of mice that are being used worldwide to develop new drug treatments for Alzheimer's disease.

<span class="mw-page-title-main">Presenilin-1</span> Protein-coding gene in the species Homo sapiens

Presenilin-1(PS-1) is a presenilin protein that in humans is encoded by the PSEN1 gene. Presenilin-1 is one of the four core proteins in the gamma secretase complex, which is considered to play an important role in generation of amyloid beta (Aβ) from amyloid-beta precursor protein (APP). Accumulation of amyloid beta is associated with the onset of Alzheimer's disease.

<span class="mw-page-title-main">PSEN2</span> Protein-coding gene in the species Homo sapiens

Presenilin-2 is a protein that is encoded by the PSEN2 gene.

<span class="mw-page-title-main">ABCA7</span> Protein-coding gene in the species Homo sapiens

ATP-binding cassette sub-family A member 7 is a protein that in humans is encoded by the ABCA7 gene.

<span class="mw-page-title-main">TREM2</span> Protein-coding gene in the species Homo sapiens

Triggering receptor expressed on myeloid cells 2(TREM2) is a protein that in humans is encoded by the TREM2 gene. TREM2 is expressed on macrophages, immature monocyte-derived dendritic cells, osteoclasts, and microglia, which are immune cells in the central nervous system. In the liver, TREM2 is expressed by several cell types, including macrophages, that respond to injury. In the intestine, TREM2 is expressed by myeloid-derived dendritic cells and macrophage. TREM2 is overexpressed in many tumor types and has anti-inflammatory activities. It might therefore be a good therapeutic target.

<span class="mw-page-title-main">TMEM106B</span> Protein-coding gene in the species Homo sapiens

Transmembrane protein 106B is a protein that is encoded by the TMEM106B gene. It is found primarily within neurons and oligodendrocytes in the central nervous system with its subcellular location being in lysosomal membranes. TMEM106B helps facilitate important functions for maintaining a healthy lysosome, and therefore certain mutations and polymorphisms can lead to issues with proper lysosomal function. Lysosomes are in charge of clearing out mis-folded proteins and other debris, and thus, play an important role in neurodegenerative diseases that are driven by the accumulation of various mis-folded proteins and aggregates. Due to its impact on lysosomal function, TMEM106B has been investigated and found to be associated to multiple neurodegenerative diseases.

<span class="mw-page-title-main">Alzheimer's disease</span> Progressive neurodegenerative disease

Alzheimer's disease (AD) is a neurodegenerative disease that usually starts slowly and progressively worsens, and is the cause of 60–70% of cases of dementia. The most common early symptom is difficulty in remembering recent events. As the disease advances, symptoms can include problems with language, disorientation, mood swings, loss of motivation, self-neglect, and behavioral issues. As a person's condition declines, they often withdraw from family and society. Gradually, bodily functions are lost, ultimately leading to death. Although the speed of progression can vary, the average life expectancy following diagnosis is three to twelve years.

Early-onset Alzheimer's disease (EOAD), also called younger-onset Alzheimer's disease (YOAD), is Alzheimer's disease diagnosed before the age of 65. It is an uncommon form of Alzheimer's, accounting for only 5–10% of all Alzheimer's cases. About 60% have a positive family history of Alzheimer's and 13% of them are inherited in an autosomal dominant manner. Most cases of early-onset Alzheimer's share the same traits as the "late-onset" form and are not caused by known genetic mutations. Little is understood about how it starts.

<span class="mw-page-title-main">Rudolph E. Tanzi</span> American geneticist

Rudolph Emile 'Rudy' Tanzi a professor of Neurology at Harvard University, vice-chair of neurology, director of the Genetics and Aging Research Unit, and co-director of the Henry and Allison McCance Center for Brain Health at Massachusetts General Hospital (MGH).

<span class="mw-page-title-main">PLD3</span> Protein-coding gene in the species Homo sapiens

Phospholipase D3, also known as PLD3, is a protein that in humans is encoded by the PLD3 gene. PLD3 belongs to the phospholipase D superfamily because it contains the two HKD motifs common to members of the phospholipase D family, however, it has no known catalytic function similar to PLD1 or PLD2. PLD3 serves as a ssDNA 5' exonuclease in antigen presenting cells. PLD3 is highly expressed in the brain in both humans and mice, and is mainly localized in the endoplasmic reticulum (ER) and the lysosome.

<span class="mw-page-title-main">SUCLG2</span> Protein-coding gene in the species Homo sapiens

Succinyl-CoA ligase [GDP-forming] subunit beta, mitochondrial is an enzyme that in humans is encoded by the SUCLG2 gene on chromosome 3.

Carlos Cruchaga is a human genomicist with expertise in multi-omics, informatics, and neurodegeneration, with a focus on Alzheimer's and Parkinson's Disease. He is a Professor of Psychiatry, Neurology and Genetics and Washington University School of Medicine. He is founding director of the Neurogenomics and Informatic (NGI) center at Washington University School of Medicine.

<span class="mw-page-title-main">Carol Jennings</span> British Alzheimers advocate and campaigner (1954–2024)

Carol Joyce Jennings was a British campaigner and advocate for research into Alzheimer's Disease. She served as an honorary Vice-President of the Alzheimer's Society until her death in 2024. Through her activism in the 1980s, Jennings brought her family to the attention of researchers studying the disease, which subsequently led to the discovery of the London Mutation. This mutation, found on the Amyloid Precursor Protein (APP) gene located on chromosome 21, marked a significant breakthrough in understanding the genetic basis of Alzheimer's Disease and provided evidence for the development of the 'amyloid hypothesis', which attempts to explain the underlying causes of Alzheimer's Disease.

References

  1. 1 2 "Alison M Goate". Icahn School of Medicine at Mount Sinai. Archived from the original on 23 October 2018. Retrieved 23 October 2018.
  2. ↑ "Huffington Center on Aging celebrates 30th anniversary". BCM Family. 5 November 2018. Archived from the original on 18 October 2019. Retrieved 18 October 2019.
  3. ↑ Goate, Alison (2008). "Interview". Biomarkers in Medicine. 2 (6). Future Medicine Ltd: 541–545. doi:10.2217/17520363.2.6.541. ISSN   1752-0363. PMID   20477443.
  4. ↑ Icahn School of Medicine at Mount Sinai. "Goate Lab". Icahn School of Medicine at Mount Sinai. Archived from the original on 2 September 2019. Retrieved 26 August 2019.
  5. ↑ Goate, Alison (December 2008). "Interview". Biomarkers in Medicine. 2 (6): 541–545. doi:10.2217/17520363.2.6.541. PMID   20477443. Archived from the original on 19 October 2019. Retrieved 19 October 2019.
  6. ↑ Goate, Alison (2 December 2008). "Interview with Alison Goate". Biomarkers in Medicine. 2 (6): 541–545. doi:10.2217/17520363.2.6.541. ISSN   1752-0371. PMID   20477443.
  7. ↑ "Announcements: Bob Lane Receives Lifetime Achievement Award". 1998. doi:10.1037/e404572005-032.{{cite journal}}: Cite journal requires |journal= (help)
  8. ↑ "National Academy of Medicine Elects 80 New Members". National Academy of Medicine. 17 October 2016. Archived from the original on 6 January 2017. Retrieved 18 October 2019.
  9. ↑ "RCF Announces Third-Annual Rainwater Prize Winners for Neurodegenerative Research". 14 December 2021.
  10. ↑ "Award for Dementia Researcher from New York City".
  11. ↑ US 5877015, Hardy, John Anthony; Chartier-Harlin, Marie-Christine& Goate, Alison Maryet al.,"APP770 mutant in Alzheimer's disease",published 1999-03-02, assigned to Imperial College of Science, Technology and Medicine
  12. ↑ US 5973133, Hardy, John A. &Goate, Alison M.,"Mutant S182 genes",published 1999-10-26, assigned to Washington University and University of South Florida
  13. ↑ US 6083694, Hardy, John &Goate, Alison M.,"Method for elucidation and detection of polymorphisms, splice variants, and proximal coding mutations using intronic sequences of the Alzheimer's S182 gene",published 2000-07-04, assigned to Washington University and University of South Florida
  14. ↑ US 6300540,Hardy, John Anthony; Chartier-Harlin, Marie-Christine& Goate, Alison Maryet al.,"Transgenic mouse expressing an APP-FAD DNA sequence",published 2001-10-09, assigned to Elan Pharmaceuticals Inc.
  15. ↑ "Espacenet – search results". worldwide.espacenet.com. Archived from the original on 16 March 2023. Retrieved 16 March 2023.
  16. ↑ US 8080371,Ballinger, Dennis; Konvicka, Karel& Bierut, Laura Jeanet al.,"Markers for addiction",published 2011-12-20, assigned to Washington University in St. Louis
  17. ↑ "Alison M. Goate, PhD - US grants". Neurotree. Archived from the original on 16 March 2023. Retrieved 15 September 2019.
  18. ↑ "RePORT ⟩ RePORTER".
  19. ↑ "RePORT ⟩ RePORTER".
  20. ↑ "RePORT ⟩ RePORTER".
  21. ↑ "RePORT ⟩ RePORTER".
  22. ↑ "Investigating MEF2C Transcription Factor as a Therapeutic Target to Reprogram Pathological Microglial States in Alzheimer's Disease".
  23. ↑ "RePORT ⟩ RePORTER".
  24. ↑ "RePORT ⟩ RePORTER".
  25. ↑ "RePORT ⟩ RePORTER".
  26. ↑ "RePORT ⟩ RePORTER".
  27. ↑ "RePORT ⟩ RePORTER".
  28. ↑ "RePORT ⟩ RePORTER".
  29. ↑ "RePORT ⟩ RePORTER".
  30. ↑ "Alison M. Goate - Semantic Scholar". www.semanticscholar.org. Archived from the original on 18 October 2019. Retrieved 18 October 2019.
  31. 1 2 3 4 5 6 "Google Scholar". scholar.google.com. Archived from the original on 16 March 2023. Retrieved 18 October 2019.
  32. ↑ Bierut, LJ (2012). "ADH1B is associated with alcohol dependence and alcohol consumption in populations of European and African ancestry". Mol Psychiatry. 17 (4): 445–450. doi:10.1038/mp.2011.124. PMC   3252425 . PMID   21968928.
  33. ↑ Hutton, M.; et al. (1998). "Association of missense and 5'-splice-site mutations in tau with the inherited dementia FTDP-17". Nature. 393 (6686): 702–705. Bibcode:1998Natur.393..702H. doi:10.1038/31508. PMID   9641683.
  34. ↑ Gitcho, M. A.; Baloh, R. H.; Chakraverty, S.; Mayo, K.; Norton, J. B.; Levitch, D.; Hatanpaa, K. J.; White Cl, 3rd; Bigio, E. H.; Caselli, R.; Baker, M.; Al-Lozi, M. T.; Morris, J. C.; Pestronk, A.; Rademakers, R.; Goate, A. M.; Cairns, N. J. (2008). "TDP-43 A315T mutation in familial motor neuron disease". Annals of Neurology. 63 (4): 535–538. doi:10.1002/ana.21344. PMC   2747362 . PMID   18288693.{{cite journal}}: CS1 maint: numeric names: authors list (link)
  35. ↑ Kauwe, John S. K.; Cruchaga, Carlos; Mayo, Kevin; Fenoglio, Chiara; Bertelsen, Sarah; Nowotny, Petra; Galimberti, Daniela; Scarpini, Elio; Morris, John C.; Fagan, Anne M.; Holtzman, David M.; Goate, Alison M. (2008). "Variation in MAPT is associated with cerebrospinal fluid tau levels in the presence of amyloid-beta deposition". Proceedings of the National Academy of Sciences. 105 (23): 8050–8054. Bibcode:2008PNAS..105.8050K. doi: 10.1073/pnas.0801227105 . PMC   2430357 . PMID   18541914.
  36. ↑ Bierut, L. J.; et al. (2008). "Variants in nicotinic receptors and risk for nicotine dependence". The American Journal of Psychiatry. 165 (9): 1163–1171. doi:10.1176/appi.ajp.2008.07111711. PMC   2574742 . PMID   18519524.
  37. ↑ Guerreiro, R (2013). "TREM2 Variants in Alzheimer's Disease". NEJM. 368 (2): 117–127. doi:10.1056/NEJMoa1211851. PMC   3631573 . PMID   23150934.
  38. ↑ Cruchaga, C (2013). "GWAS of Cerebrospinal Fluid Tau Levels Identifies Risk Variants for Alzheimer's Disease". Neuron. 78 (2): 256–268. doi:10.1016/j.neuron.2013.02.026. PMC   3664945 . PMID   23562540.
  39. ↑ Cruchaga, C (2014). "Rare coding variants in the phospholipase D3 gene confer risk for Alzheimer's disease". Nature. 505 (7484): 550–554. doi:10.1038/nature12825. PMC   4050701 . PMID   24336208.
  40. ↑ Kauwe, JS (2014). "Genome-Wide Association Study of CSF Levels of 59 Alzheimer's Disease Candidate Proteins: Significant Associations with Proteins Involved in Amyloid Processing and Inflammation". PLOS Genetics. 10 (10): e1004758. doi: 10.1371/journal.pgen.1004758 . PMID   25340798.
  41. ↑ Huang, Kuan-lin; et al. (2017). "A common haplotype lowers PU.1 expression in myeloid cells and delays onset of Alzheimer's disease". Nature Neuroscience. 20 (8): 1052–1061. doi:10.1038/nn.4587. PMC   5759334 .
  42. ↑ Kapoor, Manav; Wang, Jen-Chyong; Farris, Sean P.; Liu, Yunlong; McClintick, Jeanette; Gupta, Ishaan; Meyers, Jacquelyn L.; Bertelsen, Sarah; Chao, Michael; Nurnberger, John; Tischfield, Jay; Harari, Oscar; Zeran, Li; Hesselbrock, Victor; Bauer, Lance; Raj, Towfique; Porjesz, Bernice; Agrawal, Arpana; Foroud, Tatiana; Edenberg, Howard J.; Mayfield, R. Dayne; Goate, Alison (2019). "Analysis of whole genome-transcriptomic organization in brain to identify genes associated with alcoholism". Translational Psychiatry. 9. doi:10.1038/s41398-019-0384-y. PMID   30765688.
  43. ↑ Novikova, Gloriia; Kapoor, Manav; Tcw, Julia; Abud, Edsel M.; Efthymiou, Anastasia G.; Chen, Steven X.; Cheng, Haoxiang; Fullard, John F.; Bendl, Jaroslav; Liu, Yiyuan; Roussos, Panos; Björkegren, Johan LM; Liu, Yunlong; Poon, Wayne W.; Hao, Ke; Marcora, Edoardo; Goate, Alison M. (2021). "Integration of Alzheimer's disease genetics and myeloid genomics identifies disease risk regulatory elements and genes". Nature Communications. 12: 1610. Bibcode:2021NatCo..12.1610N. doi:10.1038/s41467-021-21823-y. PMC   7955030 . PMID   33712570.
  44. ↑ Kapoor, M.; et al. (2021). "Multi-omics integration analysis identifies novel genes for alcoholism with potential overlap with neurodegenerative diseases". Nature Communications. 12 (1): 5071. Bibcode:2021NatCo..12.5071K. doi:10.1038/s41467-021-25392-y. PMC   8379159 . PMID   34417470.
  45. ↑ Bowles, K. R.; Silva, M. C.; Whitney, K.; Bertucci, T.; Berlind, J. E.; Lai, J. D.; Garza, J. C.; Boles, N. C.; Mahali, S.; Strang, K. H.; Marsh, J. A.; Chen, C.; Pugh, D. A.; Liu, Y.; Gordon, R. E.; Goderie, S. K.; Chowdhury, R.; Lotz, S.; Lane, K.; Crary, J. F.; Haggarty, S. J.; Karch, C. M.; Ichida, J. K.; Goate, A. M.; Temple, S. (2021). "ELAVL4, splicing, and glutamatergic dysfunction precede neuron loss in MAPT mutation cerebral organoids". Cell. 184 (17): 4547–4563.e17. doi:10.1016/j.cell.2021.07.003. PMC   8635409 . PMID   34314701.
  46. ↑ Tcw, J.; Qian, L.; Pipalia, N. H.; Chao, M. J.; Liang, S. A.; Shi, Y.; Jain, B. R.; Bertelsen, S. E.; Kapoor, M.; Marcora, E.; Sikora, E.; Andrews, E. J.; Martini, A. C.; Karch, C. M.; Head, E.; Holtzman, D. M.; Zhang, B.; Wang, M.; Maxfield, F. R.; Poon, W. W.; Goate, A. M. (2022). "Cholesterol and matrisome pathways dysregulated in astrocytes and microglia". Cell. 185 (13): 2213–2233.e25. doi:10.1016/j.cell.2022.05.017. PMC   9340815 . PMID   35750033.
  47. ↑ Podleśny-Drabiniok, Anna; Novikova, Gloriia; Liu, Yiyuan; Dunst, Josefine; Temizer, Rose; Giannarelli, Chiara; Marro, Samuele; Kreslavsky, Taras; Marcora, Edoardo; Goate, Alison Mary (2024). "BHLHE40/41 regulate microglia and peripheral macrophage responses associated with Alzheimer's disease and other disorders of lipid-rich tissues". Nature Communications. 15: 2058. Bibcode:2024NatCo..15.2058P. doi:10.1038/s41467-024-46315-7. PMC   10917780 . PMID   38448474.
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