个人简介
National Research Service Award, 2012
Al Gilman Award, 2009
Leita Marsh Pharmacological Award, 2009
National Research Service Award, 2006
研究领域
RNA-binding proteins in Lou Gehrig's disease
Lou Gehrig's disease (amyotrophic lateral sclerosis, ALS) is a devastating neurodegenerative disease that results in the rapid onset of paralysis and death due to the death of upper and lower motor neurons. ALS affects 1:50,000 people per year and the average life expectancy is 3 years following diagnosis. The median age of onset is 55 years of age but it occurs in patients from their teenage years until late in life. Numerous genetic mutations have been shown to cause or closely associate with ALS over the past few years. Several of these mutations are in RNA-binding proteins. One such protein is FUS (also known as TLS). Like many of the genes that cause ALS, little is known about the wild type functions of this gene making it difficult to hypothesize the role this gene plays in disease pathology. FUS is the third leading known cause of ALS responsible for 5% of familial ALS and 1% of sporadic ALS. FUS is a nuclear protein but mutations in the nuclear localization signal of FUS are the predominant cause of ALS, which can lead to accumulation of the protein in the cytoplasm.
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Schwartz JC, Podell ER, Han SSW, Berry JD, Eggan KC, Cech TR, "FUS is sequestered in nuclear aggregates in ALS patient fibroblasts" Mol Biol Cell, 2014; accepted
Schwartz JC, Wang X, Podell ER, Cech TR, "RNA seeds higher order assembly of FUS protein" Cell Reports, 2013; 5(4):918-25.
Schwartz JC, Ebmeier CC, Podell ER, Heimiller J, Taatjes DJ, Cech TR, "FUS binds the CTD of RNA polymerase II and regulates its phosphorylation at Ser2" Genes Dev, 2012; 26:2690-95.
Pena-Llopis S, Vega-Rubin-de-Celis S, Schwartz JC, Wolff N, Tran TAT, Zou L, Xie X, Corey DR, Brugarolas J, "Reciprocal regulation of V-ATPases and mTORC1", EMBO J, 2011; 30(16):3242-58.
Schwartz JC, Corey DR, "Practical considerations for analyzing antigene RNAs (agRNAs): RNA immunoprecipitation of argonaute protein", Methods Mol Biol, 2011; 764:301-15.
Yue A, Schwartz JC, Younger ST, Chu Y, Gagnon KT, Elbashir S, Janowski BA, Corey DR, "Regulation of Transcription by Small RNAs Complementary to Sequences Downstream from the 3' Termini of Genes", Nat Chem Biol, 2010 Aug; 6(8):621-9.
Hu J, Matsui M, Gagnon KT, Schwartz JC, Gabillet S, Arar K, Wu J, Bezprozvanny I, Corey DR, "Inhibiting Expression of Mutant Huntingtin and Ataxin-3 by Targeting Expanded CAG Repeat RNAs", Nat Biotech, 2009 May; 27(5):478-84.
Schwartz, JC, Younger, S, Nguyen,N, Hardy, D, Monia, BP, Corey, DR, Janowski, BA, "Antisense Transcripts are Targets for Small Activating RNAs", Nat Struct Mol Biol. 2008 Aug;15(8):842-8.
Janowski BA, Huffman KE, Schwartz JC, Ram R, Nordsell R, Shames DS, Minna JD, Corey DR, "Involvement of AGO1 and AGO2 in mammalian transcriptional silencing", Nat Struct Mol Biol. 2006 Sep;13(9):787-92.
Janowski BA, Kaihatsu K, Huffman KE, Schwartz JC, Ram R, Hardy D, Mendelson CR, Corey DR, "Inhibiting transcription of chromosomal DNA with antigene peptide nucleic acids", Nat Chem Biol. 2005 Sep;1(4):210-5.
Janowski BA, Huffman KE, Schwartz JC, Ram R, Hardy D, Shames DS, Minna JS, Corey DR, "Inhibiting gene expression at transcription start sites in chromosomal DNA with antigene RNA", Nat Chem Biol. 2005 Sep;1(4):216-22.