Michael T. Zimmermann, PhD

Publications

• Impairment of the mitochondrial one-carbon metabolism enzyme SHMT2 causes a novel brain and heart developmental syndrome.

  (García-Cazorla À, Verdura E, Juliá-Palacios N, Anderson EN, Goicoechea L, Planas-Serra L, Tsogtbaatar E, Dsouza NR, Schlüter A, Urreizti R, Tarnowski JM, Gavrilova RH, SHMT2 Working Group, Ruiz M, Rodríguez-Palmero A, Fourcade S, Cogné B, Besnard T, Vincent M, Bézieau S, Folmes CD, Zimmermann MT, Klee EW, Pandey UB, Artuch R, Cousin MA, Pujol A.) Acta Neuropathol. 2020 Oct 05 PMID: 33015733 10/06/2020

• Novel destabilizing Dynactin variant (DCTN1 p.Tyr78His) in patient with Perry syndrome.

  (Čierny M, Hooshmand SI, Fee D, Tripathi S, Dsouza NR, La Pean Kirschner A, Zimmermann MT, Brennan R.) Parkinsonism Relat Disord. 2020 Aug;77:110-113 PMID: 32712562 SCOPUS ID: 2-s2.0-85088215494 07/28/2020

• Biallelic variants in PROZ as a cause of hypercoagulability and livedo racemosa.

  (Pinto E Vairo F, Kroc SA, Bertsch NL, Sigafoos AN, Lee HB, Dsouza NR, Clark KJ, Pichurin PN, Zimmermann MT, Klee EW.) Thromb Res. 2020 Jul 09;195:187-189 PMID: 32721632 SCOPUS ID: 2-s2.0-85088387849 07/30/2020

• Homozygous missense variant in UBE2T is associated with mild Fanconi anemia phenotype.

  (Schultz-Rogers L, Lach FP, Rickman KA, Ferrer A, Mangaonkar AA, Schwab TL, Schmitz CT, Clark KJ, Dsouza NR, Zimmermann MT, Litzow M, Jacobi N, Klee EW, Smogorzewska A, Patnaik MM.) Haematologica. 2020 Jul 09 PMID: 32646888 07/11/2020

• Novel KLHL26 variant associated with a familial case of Ebstein's anomaly and left ventricular noncompaction.

  (Samudrala SSK, North LM, Stamm KD, Earing MG, Frommelt MA, Willes R, Tripathi S, Dsouza NR, Zimmermann MT, Mahnke DK, Liang HL, Lund M, Lin CW, Geddes GC, Mitchell ME, Tomita-Mitchell A.) Mol Genet Genomic Med. 2020 04;8(4):e1152 PMID: 31985165 PMCID: PMC7196453 SCOPUS ID: 2-s2.0-85078673520 01/28/2020

• Clinical and Biochemical Phenotypes in a Family With ENPP1 Mutations.

  (Kotwal A, Ferrer A, Kumar R, Singh RJ, Murthy V, Schultz-Rogers L, Zimmermann M, Lanpher B, Zimmerman K, Stabach PR, Klee E, Braddock DT, Wermers RA.) J Bone Miner Res. 2020 Apr;35(4):662-670 PMID: 31826312 SCOPUS ID: 2-s2.0-85078067783 12/12/2019

• Genetic variants in DGAT1 cause diverse clinical presentations of malnutrition through a specific molecular mechanism.

  (Gupta A, Dsouza NR, Zarate YA, Lombardo R, Hopkin R, Linehan AR, Simpson J, McCarrier J, Agre KE, Gavrilova RH, Stephens MC, Grothe RM, Monaghan KG, Xie Y, Basel D, Urrutia RA, Cole CR, Klee EW, Zimmermann MT.) Eur J Med Genet. 2020 Apr;63(4):103817 PMID: 31778854 SCOPUS ID: 2-s2.0-85076241133 11/30/2019

• RNA Sequencing Reveals Cancer-Associated Changes in Laryngeal Cells Exposed to Non-Acid Pepsin.

  (Samuels TL, Zimmermann MT, Zeighami A, Demos W, Southwood JE, Blumin JH, Bock JM, Johnston N.) Laryngoscope. 2020 Mar 23 PMID: 32202667 SCOPUS ID: 2-s2.0-85082674385 03/24/2020

• Motor Neuron Generation from iPSCs from Identical Twins Discordant for Amyotrophic Lateral Sclerosis.

  (Seminary ER, Santarriaga S, Wheeler L, Mejaki M, Abrudan J, Demos W, Zimmermann MT, Urrutia RA, Fee D, Barkhaus PE, Ebert AD.) Cells. 2020 02 28;9(3) PMID: 32121108 PMCID: PMC7140469 03/04/2020

• Biallelic variants in PROZ as a cause of hypercoagulability and livedo racemosa

  (Pinto e Vairo F, Kroc SA, Bertsch NL, Sigafoos AN, Lee HB, Dsouza NR, Clark KJ, Pichurin PN, Zimmermann MT, Klee EW.) Thrombosis Research. November 2020;195:187-189 SCOPUS ID: 2-s2.0-85088387849 11/01/2020

• Interaction between Mas1 and AT1RA contributes to enhancement of skeletal muscle angiogenesis by angiotensin-(1-7) in Dahl salt-sensitive rats

  (Exner EC, Geurts AM, Hoffmann BR, Casati M, Stodola T, Dsouza NR, Zimmermann M, Lombard JH, Greene AS.) PLoS ONE. April 2020;15(4) SCOPUS ID: 2-s2.0-85083695035 04/01/2020

• Discovery, expression, cellular localization, and molecular properties of a novel, alternative spliced HP1γ isoform, lacking the chromoshadow domain.

  (Mathison A, Milech De Assuncao T, Dsouza NR, Williams M, Zimmermann MT, Urrutia R, Lomberk G.) PLoS One. 2020;15(2):e0217452 PMID: 32027651 PMCID: PMC7004349 SCOPUS ID: 2-s2.0-85079081692 02/07/2020