Publications

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Autism-Associated ASPM Variant Causes Macrocephaly and Social-Cognitive Deficits in Mice
Singh S, Kim H, Ecevitoglu A, Chasse R, Ludko AM, Sanganahalli B, Gangasandra V, Park SR, Yee SP, Grady J, Salamone J, Holly Fitch R, Spellman T, Hyder F, Bae BI. bioRxiv [Preprint]. 2025 Feb 19:2025.02.17.638753. doi: 10.1101/2025.02.17.638753. PMID: 40027695; PMCID: PMC11870556.

  • By using an autism-associated gain-of-function variant of ASPM, we made mouse brains bigger (macrocephaly), and the mice are hypersensitive and socially different.
  • Under revision at a peer-reviewed journal.

Conserved Transcriptional Regulation by BRN1 and BRN2 in Neocortical Progenitors Drives Mammalian Neural Specification and Neocortical expansion
Barão S, Xu Y, Llongueras JP, Vistein R, Goff L, Nielsen KJ, Bae BI, Smith RS, Walsh CA, Stein-O'Brien G, Müller U. Nat Commun. 2024 Sep 14;15(1):8043. doi: 10.1038/s41467-024-52443-x. PMID: 39271675; PMCID: PMC11399407.

  • Transcription factors BRN1 and BRN2 together regulates neocortical development, and one downstream target is ASPM.
  • Preprint: bioRxiv. 2024 May 15:2023.11.02.565322. doi: 10.1101/2023.11.02.565322. PMID: 37961182; PMCID: PMC10635068.

Oncogenic ASPM Is a Regulatory Hub of Developmental and Stemness Signaling in Cancers
Tsai KK, Bae BI, Hsu CC, Cheng LH, Shaked Y. Cancer Res. 2023 Sep 15;83(18):2993-3000. doi: 10.1158/0008-5472.CAN-23-0158. PMID: 37384617; PMCID: PMC10502471.

  • Review on the role of ASPM in development and cancer

The Polymicrogyria-Associated GPR56 Promoter Preferentially Drives Gene Expression in Developing GABAergic Neurons in Common Marmosets

Murayama AY, Kuwako KI, Okahara J, Bae BI, Okuno M, Mashiko H, Shimogori T, Walsh CA, Sasaki E, Okano H. The polymicrogyria-associated GPR56 promoter preferentially drives gene expression in developing GABAergic neurons in common marmosets. Sci Rep. 2020 Dec 9;10(1):21516. doi: 10.1038/s41598-020-78608-4. PMID: 33299078; PMCID: PMC7726139.

  • The perisylvian polymicrogyria-associated, alternatively spliced promoter of GPR56 drives unique gene expression in the primate cortex.

The Genetics of Primary Microcephaly
Jayaraman D, Bae BI, Walsh CA. Annu Rev Genomics Hum Genet. 2018 Aug 31;19:177-200. doi: 10.1146/annurev-genom-083117-021441. Epub 2018 May 23. PMID: 29799801.

  • Extensive review on genetic microcephaly and other related cerebral cortical malformations

Aspm Knockout Ferret Reveals an Evolutionary Mechanism Governing Cerebral Cortical Size

Johnson MB, Sun X, Kodani A, Borges-Monroy R, Girskis KM, Ryu SC, Wang PP, Patel K, Gonzalez DM, Woo YM, Yan Z, Liang B, Smith RS, Chatterjee M, Coman D, Papademetris X, Staib LH, Hyder F, Mandeville JB, Grant PE, Im K, Kwak H, Engelhardt JF, Walsh CA*, Bae BI*. Nature. 2018 Apr;556(7701):370-375. doi: 10.1038/s41586-018-0035-0. Epub 2018 Apr 11. PMID: 29643508; PMCID: PMC6095461. (*, co-corresponding authors).

  • Genetically engineered ferrets are a superb and rigorous model organism for cerebral cortical development research.
  • Highlighted in Cell 173: 1059-1061 and Nature Rev. Neurosci. 19: 320-321.

Microcephaly Proteins Wdr62 and Aspm Define a Mother Centriole Complex Regulating Centriole Biogenesis, Apical Complex, and Cell Fate
Jayaraman D, Kodani A, Gonzalez DM, Mancias JD, Mochida GH, Vagnoni C, Johnson J, Krogan N, Harper JW, Reiter JF, Yu TW*, Bae BI*, Walsh CA*. Microcephaly Proteins Wdr62 and Aspm Define a Mother Centriole Complex Regulating Centriole Biogenesis, Apical Complex, and Cell Fate. Neuron. 2016 Nov 23;92(4):813-828. doi: 10.1016/j.neuron.2016.09.056. Epub 2016 Oct 27. PMID: 27974163; PMCID: PMC5199216. (*, co-corresponding authors).

  • Mechanisms by which the centrosomal proteins WDR62 and ASPM together control cerebral cortical development.

Mutations in Human Accelerated Regions Disrupt Cognition and Social Behavior
Doan RN, Bae BI, Cubelos B, Chang C, Hossain AA, Al-Saad S, Mukaddes NM, Oner O, Al-Saffar M, Balkhy S, Gascon GG; Homozygosity Mapping Consortium for Autism; Nieto M, Walsh CA. Cell. 2016 Oct 6;167(2):341-354.e12. doi: 10.1016/j.cell.2016.08.071. Epub 2016 Sep 22. PMID: 27667684; PMCID: PMC5063026.

  • Mutations in “human accelerated regions”, specific noncoding regions that are uniquely distinct in humans, cause autism spectrum disorder.

Allele-Specific Regulation of Mutant Huntingtin by Wig1, a Downstream Target of p53
Kim SH, Shahani N, Bae BI, Sbodio JI, Chung Y, Nakaso K, Paul BD, Sawa A. Hum Mol Genet. 2016 Jun 15;25(12):2514-2524. doi: 10.1093/hmg/ddw115. Epub 2016 May 19. PMID: 27206983; PMCID: PMC6086561.

  • Wig1, a downstream target of the transcription factor p53, plays an important role in stabilizing mutant Huntingtin mRNA and thereby accelerating Huntington’s Disease pathology.

Genetic Changes Shaping the Human Brain
Bae BI, Jayaraman D, Walsh CA. Dev Cell. 2015 Feb 23;32(4):423-34. doi: 10.1016/j.devcel.2015.01.035. PMID: 25710529; PMCID: PMC4429600.

  • Review on how genetic changes during a lifetime or during evolution affect human brain development is reviewed with noteworthy examples.

New Functions and Signaling Mechanisms for the Class of Adhesion G Protein-Coupled Receptors
Liebscher I, Ackley B, Araç D, Ariestanti DM, Aust G, Bae BI, Bista BR, Bridges JP, Duman JG, Engel FB, Giera S, Goffinet AM, Hall RA, Hamann J, Hartmann N, Lin HH, Liu M, Luo R, Mogha A, Monk KR, Peeters MC, Prömel S, Ressl S, Schiöth HB, Sigoillot SM, Song H, Talbot WS, Tall GG, White JP, Wolfrum U, Xu L, Piao X. Ann N Y Acad Sci. 2014 Dec;1333(1):43-64. doi: 10.1111/nyas.12580. Epub 2014 Nov 25. PMID: 25424900; PMCID: PMC4278406.

  • Advancements in understanding the functions, mechanisms, and disease associations of adhesion G protein-coupled receptors are discussed.

Evolutionarily Dynamic Alternative Splicing of GPR56 Regulates Regional Cerebral Cortical Patterning
Bae BI, Tietjen I*, Atabay KD, Evrony GD, Johnson MB, Asare E, Wang PP, Murayama AY, Im K, Lisgo SN, Overman L, Šestan N, Chang BS, Barkovich AJ, Grant PE, Topçu M, Politsky J, Okano H, Piao X, Walsh CA. Science. 2014 Feb 14;343(6172):764-8. doi: 10.1126/science.1244392. PMID: 24531968; PMCID: PMC4480613. 

  • Evolutionarily dynamic promoters of GPR56 regulate regional cerebral cortical folding, neural stem cell proliferation, and, potentially, cortical evolution.
  • Highlighted in Science 343, 744–745 (2014) and Science Signaling 7(313): ec50 (2014).

What Are Mini-Brains?
Bae BI, Walsh CA. Science. 2013 Oct 11;342(6155):200-1. doi: 10.1126/science.1245812. PMID: 24115427.

  • Speculations on how human cerebral organoids, or three-dimensional in vitro cultured human neural stem cells, may benefit the studies of brain development in health and disease.

Nitric Oxide-Induced Nuclear GAPDH Activates P300/Cbp and Mediates Apoptosis
Sen N, Hara MR, Kornberg MD, Cascio MB, Bae BI, Shahani N, Thomas B, Dawson TM, Dawson VL, Snyder SH, Sawa A. Nat Cell Biol. 2008 Jul;10(7):866-73. doi: 10.1038/ncb1747. Epub 2008 Jun 15. PMID: 18552833; PMCID: PMC2689382.

  • GAPDH initiates a cell death cascade when stimulated with nitric oxide.

Neuroprotection by Pharmacologic Blockade of the GAPDH Death Cascade
Hara MR, Thomas B, Cascio MB, Bae BI, Hester LD, Dawson VL, Dawson TM, Sawa A, Snyder SH. Proc Natl Acad Sci U S A. 2006 Mar 7;103(10):3887-9. doi: 10.1073/pnas.0511321103. Epub 2006 Feb 27. PMID: 16505364; PMCID: PMC1450161.

  • Blocking the GAPDH death cascade using low doses of deprenyl provides neuroprotection in a pharmacologic mouse model of Parkinson’s Disease.

Mutant Huntingtin: Nuclear Translocation and Cytotoxicity Mediated by GAPDH
Bae BI, Hara MR, Cascio MB, Wellington CL, Hayden MR, Ross CA, Ha HC, Li XJ, Snyder SH, Sawa A. Proc Natl Acad Sci U S A. 2006 Feb 28;103(9):3405-9. doi: 10.1073/pnas.0511316103. Epub 2006 Feb 21. PMID: 16492755; PMCID: PMC1413934.

  • Nuclear localization of mutant Huntingtin, a critical step in the pathogenesis of Huntington’s Disease, is mediated by GAPDH.

p53 Mediates Cellular Dysfunction and Behavioral Abnormalities in Huntington's Disease
Bae BI, Xu H, Igarashi S, Fujimuro M, Agrawal N, Taya Y, Hayward SD, Moran TH, Montell C, Ross CA, Snyder SH, Sawa A. Neuron. 2005 Jul 7;47(1):29-41. doi: 10.1016/j.neuron.2005.06.005. PMID: 15996546.

  • The transcription factor and tumor suppressor p53 links nuclear and mitochondrial pathologies characteristic of Huntington’s Disease.
  • Highlighted in Neuron 47(1): 1-3, Nature 436(7048): 154-155, Science 310(5745): 43-45, The Lancet Neurology 4(9): 528-529, and Chemical & Engineering News 53(29): 9.

Inositol Hexakisphosphate Kinase-2, a Physiologic Mediator of Cell Death
Nagata E, Luo HR, Saiardi A, Bae BI, Suzuki N, Snyder SH. J Biol Chem. 2005 Jan 14;280(2):1634-40. doi: 10.1074/jbc.M409416200. Epub 2004 Nov 8. PMID: 15533939.

  • Endogenous InsP6K2, by generating InsP7, provides physiologic regulation of the apoptotic process.

Mechanisms of Neuronal Cell Death in Huntington's Disease
Sawa A, Tomoda T, Bae BI. Cytogenet Genome Res. 2003;100(1-4):287-95. doi: 10.1159/000072864. PMID: 14526190.

  • Review on how mutant Huntingtin can elicit cytotoxicity, as well as how the selective sets of neuronal cell death occur in Huntington’s Disease brains.

A Mammalian Iron Atpase Induced by Iron
Barañano DE, Wolosker H, Bae BI, Barrow RK, Snyder SH, Ferris CD. J Biol Chem. 2000 May 19;275(20):15166-73. doi: 10.1074/jbc.275.20.15166. PMID: 10809751.

  • Characterization of an ATP-requiring iron transporter for iron efflux in mammalian cells.