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Integrative transcriptome analyses of the aging brain implicate altered splicing in Alzheimer’s disease susceptibility

Raj, Towfique, Li, Yang I., Wong, Garrett, Humphrey, Jack, Wang, Minghui, Ramdhani, Satesh, Wang, Ying-Chih, Ng, Bernard +9 more·2018·Nature Genetics
DOI 10.1038/s41588-018-0238-1PMC PMC6354244

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  • USP6NL adds to a growing list of genes (BIN1, PICALM, RABEP1, RIN3, and SORL1) that implicate dysfunction of the myeloid endolysosomal system in AD.

    “USP6NL, a GTPase-activating protein involved in control of endocytosis, adds to a growing list of genes (BIN1, PICALM, RABEP1, RIN3, and SORL1) that implicate the dysfunction of the myeloid endolysosomal system in AD37,71.”

    From Genetic analysis of the human microglial transcriptome across brain regions, aging and disease pathologies (2022) · cites this paper as [37]

  • Upregulated genes in chronological aging showed overrepresentation for genes in AD or PD GWAS loci, but not for genes in SCZ or BD.

    “The upregulated genes in chronological aging showed overrepresentation for genes in AD (e.g. MS4A6A, FCER1G, and CR1) or PD (e.g. BST1, PTPN22, and TNFSF13) GWAS loci, but not for genes in schizophrenia (SCZ) or bipolar disorder (BD) (Fig. 3d).”

    From Genetic analysis of the human microglial transcriptome across brain regions, aging and disease pathologies (2022) · cites this paper as [37]

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Authors
Raj, T., Li, Y. I., Wong, G., Humphrey, J., Wang, M., Ramdhani, S., Wang, Y.-C., Ng, B., Gupta, I., Haroutunian, V., Schadt, E. E., Young-Pearse, T., Mostafavi, S., Zhang, B., Sklar, P., Bennett, D. A., & De Jager, P. L.
ORCID
Venue
Nature Genetics
Publisher
Springer Science and Business Media LLC
Published
2018-10-08
Volume
50
Issue
11
Pages
1584-1592
ISSN
  • 1061-4036
  • 1546-1718
DOI
10.1038/s41588-018-0238-1
PMC
PMC6354244
Cited by
430
References
12
Language
en
Licence
www.springer.com/tdm (tdm)

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