Angela Rachubinski, PhD

Publications

• Flores-Aguilar L, Hamlett ED, Araya P, Barone E, Bhattacharyya A, Carmona-Iragui M, Chan L, Christian B, Costa ACS, Costanzo F, Del Hoyo Soriano L, Dierssen M, Eichler EE, Fisher E, Galbraith M, Ghosh S, Gimenez S, Guedj F, Guidi S, Iulita MF, Mobley W, Pelleri MC, Potier MC, Rabin KR, Rachubinski A, Rebillat AS, Rubenstein E, Saternos H, Sordo L, Strydom A, Valle-Tamayo N, Waugh KA, Yu E, Zeldich E, Busciglio J, Head E. Imagine, Discover, Inspire: Proceedings of the 4th International Conference of the Trisomy 21 Research Society. Neuromolecular Med. 2025 Jan 5;27(1):5. PubMed PMID: 39756004
• Rachubinski AL, Wallace E, Gurnee E, Enriquez-Estrada BA, Worek KR, Smith KP, Araya P, Waugh KA, Granrath RE, Britton E, Lyford HR, Donovan MG, Eduthan NP, Hill AA, Martin B, Sullivan KD, Patel L, Fidler DJ, Galbraith MD, Dunnick CA, Norris DA, Espinosa JM. JAK inhibition decreases the autoimmune burden in Down syndrome. Elife. 2024 Dec 31;13. PubMed PMID: 39737640
• Gillenwater LA, Galbraith MD, Rachubinski AL, Eduthan NP, Sullivan KD, Espinosa JM, Costello JC. Integrated analysis of immunometabolic interactions in Down syndrome. Sci Adv. 2024 Dec 13;10(50):eadq3073. PubMed PMID: 39671500
• Feldman ER, Li Y, Cutler DJ, Rosser TC, Wechsler SB, Sanclemente L, Rachubinski AL, Elliott N, Vyas P, Roberts I, Rabin KR, Wagner M, Gelb BD, Espinosa JM, Lupo PJ, de Smith AJ, Sherman SL, Leslie EJ. Genome-wide association studies of Down syndrome associated congenital heart defects. medRxiv. 2024 Sep 6. PubMed PMID: 39281767
• Rachubinski AL, Patel LR, Sannar EM, Kammeyer RM, Sanders J, Enriquez-Estrada BA, Worek KR, Fidler DJ, Santoro JD, Espinosa JM. JAK inhibition in Down Syndrome Regression Disorder. J Neuroimmunol. 2024 Oct 15;395:578442. PubMed PMID: 39216159
• Donovan MG, Rachubinski AL, Smith KP, Araya P, Waugh KA, Enriquez-Estrada B, Britton EC, Lyford HR, Granrath RE, Schade KA, Kinning KT, Paul Eduthan N, Sullivan KD, Galbraith MD, Espinosa JM. Multimodal analysis of dysregulated heme metabolism, hypoxic signaling, and stress erythropoiesis in Down syndrome. Cell Rep. 2024 Aug 27;43(8):114599. PubMed PMID: 39120971
• Donovan MG, Eduthan NP, Smith KP, Britton EC, Lyford HR, Araya P, Granrath RE, Waugh KA, Enriquez Estrada B, Rachubinski AL, Sullivan KD, Galbraith MD, Espinosa JM. Variegated overexpression of chromosome 21 genes reveals molecular and immune subtypes of Down syndrome. Nat Commun. 2024 Jun 28;15(1):5473. PubMed PMID: 38942750
• Santoro JD, Khoshnood MM, Jafarpour S, Nguyen L, Boyd NK, Vogel BN, Kammeyer R, Patel L, Manning MA, Rachubinski AL, Filipink RA, Baumer NT, Santoro SL, Franklin C, Tamrazi B, Yeom KW, Worley G, Espinosa JM, Rafii MS. Neuroimaging abnormalities associated with immunotherapy responsiveness in Down syndrome regression disorder. Ann Clin Transl Neurol. 2024 Apr;11(4):1034-1045. PubMed PMID: 38375538
• Rachubinski AL, Wallace E, Gurnee E, Estrada BAE, Worek KR, Smith KP, Araya P, Waugh KA, Granrath RE, Britton E, Lyford HR, Donovan MG, Eduthan NP, Hill AA, Martin B, Sullivan KD, Patel L, Fidler DJ, Galbraith MD, Dunnick CA, Norris DA, Espinosa JM. JAK inhibition decreases the autoimmune burden in Down syndrome. JAK inhibition decreases the autoimmune burden in Down syndrome eLife 13:RP99323. PubMed PMID: 38946973
• Galbraith MD, Rachubinski AL, Smith KP, Araya P, Waugh KA, Enriquez-Estrada B, Worek K, Granrath RE, Kinning KT, Paul Eduthan N, Ludwig MP, Hsieh EWY, Sullivan KD, Espinosa JM. Multidimensional definition of the interferonopathy of Down syndrome and its response to JAK inhibition. Sci Adv. 2023 Jun 28;9(26):eadg6218. PubMed PMID: 37379383
• Chi C, Knight WE, Riching AS, Zhang Z, Tatavosian R, Zhuang Y, Moldovan R, Rachubinski AL, Gao D, Xu H, Espinosa JM, Song K. Interferon hyperactivity impairs cardiogenesis in Down syndrome via downregulation of canonical Wnt signaling. iScience. 2023 Jul 21;26(7):107012. PubMed PMID: 37360690
• Waugh KA, Minter R, Baxter J, Chi C, Galbraith MD, Tuttle KD, Eduthan NP, Kinning KT, Andrysik Z, Araya P, Dougherty H, Dunn LN, Ludwig M, Schade KA, Tracy D, Smith KP, Granrath RE, Busquet N, Khanal S, Anderson RD, Cox LL, Estrada BE, Rachubinski AL, Lyford HR, Britton EC, Fantauzzo KA, Orlicky DJ, Matsuda JL, Song K, Cox TC, Sullivan KD, Espinosa JM. Triplication of the interferon receptor locus contributes to hallmarks of Down syndrome in a mouse model. Nat Genet. 2023 Jun;55(6):1034-1047. PubMed PMID: 37277650
• Tatavosian R, Donovan MG, Galbraith MD, Duc HN, Szwarc MM, Joshi MU, Frieman A, Bilousova G, Cao Y, Smith KP, Song K, Rachubinski AL, Andrysik Z, Espinosa JM. Cell differentiation modifies the p53 transcriptional program through a combination of gene silencing and constitutive transactivation. Cell Death Differ. 2023 Apr;30(4):952-965. PubMed PMID: 36681780
• Araya P, Kinning KT, Coughlan C, Smith KP, Granrath RE, Enriquez-Estrada BA, Worek K, Sullivan KD, Rachubinski AL, Wolter-Warmerdam K, Hickey F, Galbraith MD, Potter H, Espinosa JM. IGF1 deficiency integrates stunted growth and neurodegeneration in Down syndrome. Cell Rep. 2022 Dec 27;41(13):111883. PubMed PMID: 36577365
• Klein JA, Li Z, Rampam S, Cardini J, Ayoub A, Shaw P, Rachubinski AL, Espinosa JM, Zeldich E, Haydar TF. Sonic Hedgehog Pathway Modulation Normalizes Expression of Olig2 in Rostrally Patterned NPCs With Trisomy 21. Front Cell Neurosci. 2021;15:794675. PubMed PMID: 35058753
• Liggett LA, Galbraith MD, Smith KP, Sullivan KD, Granrath RE, Enriquez-Estrada B, Kinning KT, Shaw JR, Rachubinski AL, Espinosa JM, DeGregori J. Precocious clonal hematopoiesis in Down syndrome is accompanied by immune dysregulation. Blood Adv. 2021 Apr 13;5(7):1791-1796. PubMed PMID: 33787858
• Pham AT, Rachubinski AL, Enriquez-Estrada B, Worek K, Griffith M, Espinosa JM. JAK inhibition for treatment of psoriatic arthritis in Down syndrome. Rheumatology (Oxford). 2021 Sep 1;60(9):e309-e311. PubMed PMID: 33630031
• Klein JA, Li Z, Rampam S, Cardini J, Ayoub A, Shaw P, Rachubinski AL, Espinosa JM, Zeldich E, Haydar TF. Sonic Hedgehog Pathway Modulation Normalizes Expression of Olig2 in Rostrally Patterned NPCs With Trisomy 21. Front Cell Neurosci. 2021;15:794675. PubMed PMID: 35058753
• Liggett LA, Galbraith MD, Smith KP, Sullivan KD, Granrath RE, Enriquez-Estrada B, Kinning KT, Shaw JR, Rachubinski AL, Espinosa JM, DeGregori J. Precocious clonal hematopoiesis in Down syndrome is accompanied by immune dysregulation. Blood Adv. 2021 Apr 13;5(7):1791-1796. PubMed PMID: 33787858
• Pham AT, Rachubinski AL, Enriquez-Estrada B, Worek K, Griffith M, Espinosa JM. JAK inhibition for treatment of psoriatic arthritis in Down syndrome. Rheumatology (Oxford). 2021 Sep 1;60(9):e309-e311. PubMed PMID: 33630031
• Waugh KA, Araya P, Pandey A, Jordan KR, Smith KP, Granrath RE, Khanal S, Butcher ET, Estrada BE, Rachubinski AL, McWilliams JA, Minter R, Dimasi T, Colvin KL, Baturin D, Pham AT, Galbraith MD, Bartsch KW, Yeager ME, Porter CC, Sullivan KD, Hsieh EW, Espinosa JM. Mass Cytometry Reveals Global Immune Remodeling with Multi-lineage Hypersensitivity to Type I Interferon in Down Syndrome. Cell Rep. 2019 Nov 12;29(7):1893-1908.e4. PubMed PMID: 31722205
• Araya P, Waugh KA, Sullivan KD, Núñez NG, Roselli E, Smith KP, Granrath RE, Rachubinski AL, Enriquez Estrada B, Butcher ET, Minter R, Tuttle KD, Bruno TC, Maccioni M, Espinosa JM. Trisomy 21 dysregulates T cell lineages toward an autoimmunity-prone state associated with interferon hyperactivity. Proc Natl Acad Sci U S A. 2019 Nov 26;116(48):24231-24241. PubMed PMID: 31699819
• Powers RK, Culp-Hill R, Ludwig MP, Smith KP, Waugh KA, Minter R, Tuttle KD, Lewis HC, Rachubinski AL, Granrath RE, Carmona-Iragui M, Wilkerson RB, Kahn DE, Joshi M, Lleó A, Blesa R, Fortea J, D'Alessandro A, Costello JC, Sullivan KD, Espinosa JM. Trisomy 21 activates the kynurenine pathway via increased dosage of interferon receptors. Nat Commun. 2019 Oct 18;10(1):4766. PubMed PMID: 31628327
• Rachubinski AL, Estrada BE, Norris D, Dunnick CA, Boldrick JC, Espinosa JM. Janus kinase inhibition in Down syndrome: 2 cases of therapeutic benefit for alopecia areata. JAAD Case Rep. 2019 Apr;5(4):365-367. PubMed PMID: 31008170
• Waugh KA, Araya P, Pandey A, Jordan KR, Smith KP, Granrath RE, Khanal S, Butcher ET, Estrada BE, Rachubinski AL, McWilliams JA, Minter R, Dimasi T, Colvin KL, Baturin D, Pham AT, Galbraith MD, Bartsch KW, Yeager ME, Porter CC, Sullivan KD, Hsieh EW, Espinosa JM. Mass Cytometry Reveals Global Immune Remodeling with Multi-lineage Hypersensitivity to Type I Interferon in Down Syndrome. Cell Rep. 2019 Nov 12;29(7):1893-1908.e4. PubMed PMID: 31722205
• Araya P, Waugh KA, Sullivan KD, Núñez NG, Roselli E, Smith KP, Granrath RE, Rachubinski AL, Enriquez Estrada B, Butcher ET, Minter R, Tuttle KD, Bruno TC, Maccioni M, Espinosa JM. Trisomy 21 dysregulates T cell lineages toward an autoimmunity-prone state associated with interferon hyperactivity. Proc Natl Acad Sci U S A. 2019 Nov 26;116(48):24231-24241. PubMed PMID: 31699819
• Powers RK, Culp-Hill R, Ludwig MP, Smith KP, Waugh KA, Minter R, Tuttle KD, Lewis HC, Rachubinski AL, Granrath RE, Carmona-Iragui M, Wilkerson RB, Kahn DE, Joshi M, Lleó A, Blesa R, Fortea J, D'Alessandro A, Costello JC, Sullivan KD, Espinosa JM. Trisomy 21 activates the kynurenine pathway via increased dosage of interferon receptors. Nat Commun. 2019 Oct 18;10(1):4766. PubMed PMID: 31628327
• Rachubinski AL, Estrada BE, Norris D, Dunnick CA, Boldrick JC, Espinosa JM. Janus kinase inhibition in Down syndrome: 2 cases of therapeutic benefit for alopecia areata. JAAD Case Rep. 2019 Apr;5(4):365-367. PubMed PMID: 31008170
• Culp-Hill R, Zheng C, Reisz JA, Smith K, Rachubinski A, Nemkov T, Butcher E, Granrath R, Hansen KC, Espinosa JM, D'Alessandro A. Red blood cell metabolism in Down syndrome: hints on metabolic derangements in aging. Blood Adv. 2017 Dec 26;1(27):2776-2780. PubMed PMID: 29296929
• Sullivan KD, Evans D, Pandey A, Hraha TH, Smith KP, Markham N, Rachubinski AL, Wolter-Warmerdam K, Hickey F, Espinosa JM, Blumenthal T. Trisomy 21 causes changes in the circulating proteome indicative of chronic autoinflammation. Sci Rep. 2017 Nov 1;7(1):14818. PubMed PMID: 29093484
• Rachubinski AL, Hepburn S, Elias ER, Gardiner K, Shaikh TH. The co-occurrence of Down syndrome and autism spectrum disorder: is it because of additional genetic variations?. Prenat Diagn. 2017 Jan;37(1):31-36. PubMed PMID: 27859447
• Rachubinski AL, Hepburn S, Elias ER, Gardiner K, Shaikh TH. The co-occurrence of Down syndrome and autism spectrum disorder: is it because of additional genetic variations?. Prenat Diagn. 2016 Nov 17. [Epub ahead of print] PubMed PMID: 27859447