Search Results - "Gitler, A"

Evaluating the prevalence of polyglutamine repeat expansions in amyotrophic lateral sclerosis by LEE, T, LI, Y. R, GITLER, A. D, CHESI, A, HART, M. P, RAMOS, D, JETHAVA, N, HOSANGADI, D, EPSTEIN, J, HODGES, B, BONINI, N. M

“…Given the recent finding of an association between intermediate-length polyglutamine (polyQ) expansions in ataxin 2 and amyotrophic lateral sclerosis (ALS), we…”
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Ataxin-2 intermediate-length polyglutamine expansions in European ALS patients by LEE, Teresa, LI, Yun R, GISPERT, Suzana, BONINI, Nancy M, ANDERSEN, Peter M, GITIER, Aaron D, INGRE, Caroline, WEBER, Markus, GREHL, Torsten, GREDAL, Ole, DE CARVALHO, Mamede, MEYER, Thomas, TYSNES, Ole-Björn, AUBURGER, Georg

“…Amyotrophic lateral sclerosis (ALS) is a fatal adult-onset neurodegenerative disease primarily affecting motor neurons. We recently identified…”
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ALS-associated ataxin 2 polyQ expansions enhance stress-induced caspase 3 activation and increase TDP-43 pathological modifications by Hart, Michael P, Gitler, Aaron D

“…Amyotrophic lateral sclerosis (ALS) is a devastating neurodegenerative disease caused by the loss of motor neurons. The degenerating motor neurons of ALS…”
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The novel Parkinson's disease linked mutation G51D attenuates in vitro aggregation and membrane binding of  -synuclein, and enhances its secretion and nuclear localization in cells by Fares, M.-B., Ait-Bouziad, N., Dikiy, I., Mbefo, M. K., Jovi i , A., Kiely, A., Holton, J. L., Lee, S.-J., Gitler, A. D., Eliezer, D., Lashuel, H. A.

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Profilin 1 associates with stress granules and ALS-linked mutations alter stress granule dynamics by Figley, Matthew D, Bieri, Gregor, Kolaitis, Regina-Maria, Taylor, J Paul, Gitler, Aaron D

“…Mutations in the PFN1 gene encoding profilin 1 are a rare cause of familial amyotrophic lateral sclerosis (ALS). Profilin 1 is a well studied actin-binding…”
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Neural crest migration and mouse models of congenital heart disease by Gitler, A D, Brown, C B, Kochilas, L, Li, J, Epstein, J A

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Kinetic analysis of npBAF to nBAF switching reveals exchange of SS18 with CREST and integration with neural developmental pathways by Staahl, Brett T, Tang, Jiong, Wu, Wei, Sun, Alfred, Gitler, Aaron D, Yoo, Andrew S, Crabtree, Gerald R

“…During the development of the vertebrate nervous system, neural progenitors divide, generate progeny that exit mitosis, and then migrate to sites where they…”
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Apakaochtodenes A and B:  Two Tetrahalogenated Monoterpenes from the Red Marine Alga Portieria hornemannii by Gunatilaka, A. A. Leslie, Paul, Valerie J, Park, Peter U, Puglisi, Melany P, Gitler, Aaron D, Eggleston, Drake S, Haltiwanger, R. Curtis, Kingston, David G. I

“…The structure of apakaochtodene A, the minor isomer of two tetrahalogenated ochtodene monoterpenes, isolated from the red marine alga Portieria hornemannii…”
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Defects in trafficking bridge Parkinson's disease pathology and genetics by Abeliovich, Asa, Gitler, Aaron D.

“…Parkinson's disease is a debilitating, age-associated movement disorder. A central aspect of the pathophysiology of Parkinson's disease is the progressive…”
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Cloning and expression analysis of murine lupin, a member of a novel gene family that is conserved through evolution and associated with Lupus inclusions by Lu, M M, Chen, F, Gitler, A, Li, J, Jin, F, Ma, X K, Epstein, J A

“…We describe here the first full-length sequence of a member of a novel gene family encoding a protein in the mouse that we call Lupin. Lupin is homologous to a…”
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Insertion of Cre into the Pax3 locus creates a new allele of Splotch and identifies unexpected Pax3 derivatives by Engleka, Kurt A., Gitler, Aaron D., Zhang, Maozhen, Zhou, Diane D., High, Frances A., Epstein, Jonathan A.

“…Pax3 is a transcription factor expressed in the dorsal neural tube and somite of the developing embryo. It plays critical roles in pre-migratory neural crest…”
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Semaphorin-Plexin Signaling Guides Patterning of the Developing Vasculature by Torres-Vázquez, Jesús, Gitler, Aaron D, Fraser, Sherri D, Berk, Jason D, Van N. Pham, Fishman, Mark C, Childs, Sarah, Epstein, Jonathan A, Weinstein, Brant M

“…Major vessels of the vertebrate circulatory system display evolutionarily conserved and reproducible anatomy, but the cues guiding this stereotypic patterning…”
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Cardiac hypertrophy and histone deacetylase–dependent transcriptional repression mediated by the atypical homeodomain protein Hop by Kook, Hyun, Lepore, John J., Gitler, Aaron D., Lu, Min Min, Wing-Man Yung, Wendy, Mackay, Joel, Zhou, Rong, Ferrari, Victor, Gruber, Peter, Epstein, Jonathan A.

“…Activation of multiple pathways is associated with cardiac hypertrophy and heart failure. Repression of antihypertrophic pathways has rarely been demonstrated…”
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Hop Is an Unusual Homeobox Gene that Modulates Cardiac Development by Chen, Fabian, Kook, Hyun, Milewski, Rita, Gitler, Aaron D., Lu, Min Min, Li, Jun, Nazarian, Ronniel, Schnepp, Robert, Jen, Kuangyu, Biben, Christine, Runke, Greg, Mackay, Joel P., Novotny, Jiri, Schwartz, Robert J., Harvey, Richard P., Mullins, Mary C., Epstein, Jonathan A.

“…Hop is a small, divergent homeodomain protein that lacks certain conserved residues required for DNA binding. Hop gene expression initiates early in…”
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Cloning and characterization of zebrafish tbx1 by Kochilas, Lazaros K., Potluri, Vijaya, Gitler, Aaron, Balasubramanian, Krithika, Chin, Alvin J.

“…Tbx1 is one of the genes within the DiGeorge Critical Region (DGCR) and has been recently identified as the critical gene for the cardiovascular anomalies in…”
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Nf1 has an essential role in endothelial cells by Epstein, Jonathan A, Gitler, Aaron D, Zhu, Yuan, Ismat, Fraz A, Lu, Min Min, Yamauchi, Yasutaka, Parada, Luis F

“…Neurofibromatosis type 1 (NF1) or von Recklinghausen neurofibromatosis is a genetic disorder that occurs in 1 of 4000 births and is characterized by benign and…”
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Critical calpain-dependent ultrastructural alterations underlie the transformation of an axonal segment into a growth cone after axotomy of cultured Aplysia neurons by Spira, Micha E., Oren, Ruthi, Dormann, Ada, Gitler, Daniel

“…The transformation of a stable axonal segment into a motile growth cone is a critical step in the regeneration of amputated axons. In earlier studies we found…”
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Molecular markers of cardiac endocardial cushion development by Gitler, Aaron D., Lu, Min Min, Jiang, Yue Qin, Epstein, Jonathan A., Gruber, Peter J.

“…Endocardial cushions are precursors of mature heart valves. They form within the looped heart tube as discrete swellings and develop into thin, pliable…”
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Synthesis and biological activity of semipeptoid farnesyltransferase inhibitors by Reuveni, Hadas, Gitler, Alex, Poradosu, Enrique, Gilon, Chaim, Levitzki, Alexander

“…Semipeptoids derived from the Ras farnesyl transferase inhibitor, CVFM, were synthesized by the Simultaneous Multiple Analogue Peptide Synthesis methodology…”
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Tie2-cre-induced inactivation of a conditional mutant Nf1 allele in mouse results in a myeloproliferative disorder that models juvenile myelomonocytic leukemia by GITLER, Aaron D, YI KONG, CHOI, John K, YUAN ZHU, PEAR, Warren S, EPSTEIN, Jonathan A

“…Neurofibromatosis type one (NF1) is a common genetic disorder affecting 1:4000 births and is characterized by benign and malignant tumors. Children with NF1…”
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