Michael T. Zimmermann, PhD

Publications

• NADPH oxidase 4 contributes to TRPV4-mediated endothelium-dependent vasodilation in human arterioles by regulating protein phosphorylation of TRPV4 channels.

  (Xie Y, Nishijima Y, Zinkevich NS, Korishettar A, Fang J, Mathison AJ, Zimmermann MT, Wilcox DA, Gutterman DD, Shen Y, Zhang DX.) Basic Res Cardiol. 2022 Apr 25;117(1):24 PMID: 35469044 SCOPUS ID: 2-s2.0-85128849246 04/27/2022

• Microglia Influence Neurofilament Deposition in ALS iPSC-Derived Motor Neurons.

  (Allison RL, Adelman JW, Abrudan J, Urrutia RA, Zimmermann MT, Mathison AJ, Ebert AD.) Genes (Basel). 2022 01 27;13(2) PMID: 35205286 PMCID: PMC8871895 SCOPUS ID: 2-s2.0-85124092767 02/26/2022

• Microglia Influence Neurofilament Deposition in ALS iPSC-Derived Motor Neurons

  (Allison RL, Adelman JW, Abrudan J, Urrutia RA, Zimmermann MT, Mathison AJ, Ebert AD.) Genes. February 2022;13(2) SCOPUS ID: 2-s2.0-85124092767 02/01/2022

• Enhanced interpretation of 935 hotspot and non-hotspot RAS variants using evidence-based structural bioinformatics.

  (Tripathi S, Dsouza NR, Mathison AJ, Leverence E, Urrutia R, Zimmermann MT.) Comput Struct Biotechnol J. 2022;20:117-127 PMID: 34976316 PMCID: PMC8688876 01/04/2022

• Enhanced interpretation of 935 hotspot and non-hotspot RAS variants using evidence-based structural bioinformatics

  (Tripathi S, Dsouza NR, Mathison AJ, Leverence E, Urrutia R, Zimmermann MT.) Computational and Structural Biotechnology Journal. January 2022;20:117-127 SCOPUS ID: 2-s2.0-85121238740 01/01/2022

• Computational modeling reveals key molecular properties and dynamic behavior of disruptor of telomeric silencing 1-like (DOT1L) and partnering complexes involved in leukemogenesis.

  (Stodola TJ, Chi YI, De Assuncao TM, Leverence EN, Tripathi S, Dsouza NR, Mathison AJ, Volkman BF, Smith BC, Lomberk G, Zimmermann MT, Urrutia R.) Proteins. 2022 01;90(1):282-298 PMID: 34414607 PMCID: PMC8671179 SCOPUS ID: 2-s2.0-85114677469 08/21/2021

• De novo coding variants in the AGO1 gene cause a neurodevelopmental disorder with intellectual disability.

  (Schalk A, Cousin MA, Dsouza NR, Challman TD, Wain KE, Powis Z, Minks K, Trimouille A, Lasseaux E, Lacombe D, Angelini C, Michaud V, Van-Gils J, Spataro N, Ruiz A, Gabau E, Stolerman E, Washington C, Louie R, Lanpher BC, Kemppainen JL, Innes M, Kooy F, Meuwissen M, Goldenberg A, Lecoquierre F, Vera G, Diderich KEM, Sheidley B, El Achkar CM, Park M, Hamdan FF, Michaud JL, Lewis AJ, Zweier C, Reis A, Wagner M, Weigand H, Journel H, Keren B, Passemard S, Mignot C, van Gassen K, Brilstra EH, Itzikowitz G, O'Heir E, Allen J, Donald KA, Korf BR, Skelton T, Thompson M, Robin NH, Rudy NL, Dobyns WB, Foss K, Zarate YA, Bosanko KA, Alembik Y, Durand B, Tran Mau-Them F, Ranza E, Blanc X, Antonarakis SE, McWalter K, Torti E, Millan F, Dameron A, Tokita M, Zimmermann MT, Klee EW, Piton A, Gerard B.) J Med Genet. 2021 Dec 15 PMID: 34930816 12/22/2021

• KrasG12D induces changes in chromatin territories that differentially impact early nuclear reprogramming in pancreatic cells.

  (Mathison AJ, Kerketta R, de Assuncao TM, Leverence E, Zeighami A, Urrutia G, Stodola TJ, di Magliano MP, Iovanna JL, Zimmermann MT, Lomberk G, Urrutia R.) Genome Biol. 2021 10 14;22(1):289 PMID: 34649604 PMCID: PMC8518179 SCOPUS ID: 2-s2.0-85117299300 10/16/2021

• P2T2: Protein Panoramic annoTation Tool for the interpretation of protein coding genetic variants.

  (DeVoe E, Oliver GR, Zenka R, Blackburn PR, Cousin MA, Boczek NJ, Kocher JA, Urrutia R, Klee EW, Zimmermann MT.) JAMIA Open. 2021 Jul;4(3):ooab065 PMID: 34377961 PMCID: PMC8346652 SCOPUS ID: 2-s2.0-85118188543 08/12/2021

• Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome.

  (Cousin MA, Creighton BA, Breau KA, Spillmann RC, Torti E, Dontu S, Tripathi S, Ajit D, Edwards RJ, Afriyie S, Bay JC, Harper KM, Beltran AA, Munoz LJ, Falcon Rodriguez L, Stankewich MC, Person RE, Si Y, Normand EA, Blevins A, May AS, Bier L, Aggarwal V, Mancini GMS, van Slegtenhorst MA, Cremer K, Becker J, Engels H, Aretz S, MacKenzie JJ, Brilstra E, van Gassen KLI, van Jaarsveld RH, Oegema R, Parsons GM, Mark P, Helbig I, McKeown SE, Stratton R, Cogne B, Isidor B, Cacheiro P, Smedley D, Firth HV, Bierhals T, Kloth K, Weiss D, Fairley C, Shieh JT, Kritzer A, Jayakar P, Kurtz-Nelson E, Bernier RA, Wang T, Eichler EE, van de Laar IMBH, McConkie-Rosell A, McDonald MT, Kemppainen J, Lanpher BC, Schultz-Rogers LE, Gunderson LB, Pichurin PN, Yoon G, Zech M, Jech R, Winkelmann J, Undiagnosed Diseases Network, Genomics England Research Consortium, Beltran AS, Zimmermann MT, Temple B, Moy SS, Klee EW, Tan QK, Lorenzo DN.) Nat Genet. 2021 07;53(7):1006-1021 PMID: 34211179 PMCID: PMC8273149 SCOPUS ID: 2-s2.0-85111456769 07/03/2021

• Correction to: Molecular mechanics and dynamic simulations of well-known Kabuki syndrome-associated KDM6A variants reveal putative mechanisms of dysfunction.

  (Chi YI, Stodola TJ, De Assuncao TM, Leverence EN, Tripathi S, Dsouza NR, Mathison AJ, Basel DG, Volkman BF, Smith BC, Lomberk G, Zimmermann MT, Urrutia R.) Orphanet J Rare Dis. 2021 Jun 01;16(1):247 PMID: 34074320 PMCID: PMC8170813 SCOPUS ID: 2-s2.0-85107273180 06/03/2021

• Inactivation of the Euchromatic Histone-Lysine N-Methyltransferase 2 Pathway in Pancreatic Epithelial Cells Antagonizes Cancer Initiation and Pancreatitis-Associated Promotion by Altering Growth and Immune Gene Expression Networks.

  (Urrutia G, de Assuncao TM, Mathison AJ, Salmonson A, Kerketta R, Zeighami A, Stodola TJ, Adsay V, Pehlivanoglu B, Dwinell MB, Zimmermann MT, Iovanna JL, Urrutia R, Lomberk G.) Front Cell Dev Biol. 2021;9:681153 PMID: 34249932 PMCID: PMC8261250 SCOPUS ID: 2-s2.0-85116952280 07/13/2021