Alpha1 antitrypsin deficiency is the most common cause of hereditary liver disease, however, only about 10% of patients with the mutation develop liver disease. The mechanism for why certain patients develop liver disease remains poorly understood. Using hiPS cells we will correct the Z AAT mutation using the CRISPR/Cas9 system to compare syngeneic daughter clones. This will reduce variation due to other genetic differences allowing for a more precise evaluation of the effects from the mutant protein and allow for the creation of a disease signature.
- Member, Pulmonary Center, Boston University
- Member, Center for Regenerative Medicine, Boston University
- University of Vermont College of Medicine, MD
- Cornell University, BS
- Published on 7/1/2021
Werder RB, Kaserman JE, Packer MS, Lindstrom-Vautrin J, Villacorta-Martin C, Young LE, Aratyn-Schaus Y, Gregoire F, Wilson AA. Adenine Base Editing Reduces Misfolded Protein Accumulation and Toxicity in Alpha-1 Antitrypsin Deficient Patient iPSC-Hepatocytes. Mol Ther. 2021 Jul 01. PMID: 34217893.
- Published on 7/2/2020
Kaserman JE, Hurley K, Dodge M, Villacorta-Martin C, Vedaie M, Jean JC, Liberti DC, James MF, Higgins MI, Lee NJ, Washko GR, San Jose Estepar R, Teckman J, Kotton DN, Wilson AA. A Highly Phenotyped Open Access Repository of Alpha-1 Antitrypsin Deficiency Pluripotent Stem Cells. Stem Cell Reports. 2020 07 14; 15(1):242-255. PMID: 32619491.
- Published on 9/15/2018
Kaserman JE, Wilson AA. Patient-Derived Induced Pluripotent Stem Cells for Alpha-1 Antitrypsin Deficiency Disease Modeling and Therapeutic Discovery. Chronic Obstr Pulm Dis. 2018 Sep 15; 5(4):258-266. PMID: 30723783.
- Published on 6/5/2018
Segeritz CP, Rashid ST, de Brito MC, Serra MP, Ordonez A, Morell CM, Kaserman JE, Madrigal P, Hannan NRF, Gatto L, Tan L, Wilson AA, Lilley K, Marciniak SJ, Gooptu B, Lomas DA, Vallier L. hiPSC hepatocyte model demonstrates the role of unfolded protein response and inflammatory networks in a1-antitrypsin deficiency. J Hepatol. 2018 Oct; 69(4):851-860. PMID: 29879455.
- Published on 1/1/2017
Kaserman JE, Wilson AA. Protocol for Directed Differentiation of Human Induced Pluripotent Stem Cells (iPSCs) to a Hepatic Lineage. Methods Mol Biol. 2017; 1639:151-160. PMID: 28752455.
- Published on 12/20/2006
Garcia MI, Kaserman J, Chung YH, Jung JU, Lee SH. Herpesvirus saimiri STP-A oncoprotein utilizes Src family protein tyrosine kinase and tumor necrosis factor receptor-associated factors to elicit cellular signal transduction. J Virol. 2007 Mar; 81(6):2663-74. PMID: 17182673.