Results 31 to 40 of about 1,253 (161)

Reduction of retinal ganglion cell death in mouse models of familial dysautonomia using AAV-mediated gene therapy and splicing modulators

Scientific Reports, 2023
Familial dysautonomia (FD) is a rare neurodevelopmental and neurodegenerative disease caused by a splicing mutation in the Elongator Acetyltransferase Complex Subunit 1 (ELP1) gene.
Anastasia Schultz, Shun-Yun Cheng, Emily Kirchner, Stephanann Costello, Heini Miettinen, Marta Chaverra, Colin King, Lynn George, Xin Zhao, Jana Narasimhan, Marla Weetall, Susan Slaugenhaupt, Elisabetta Morini, Claudio Punzo, Frances Lefcort   +14 more
doaj   +1 more source

Targeted c-Myc Inhibition and Systemic Temozolomide Therapy Extend Survival in Glioblastoma Xenografts

Bioengineering, 2023
Glioblastoma is a highly aggressive disease with poor patient outcomes despite current treatment options, which consist of surgery, radiation, and chemotherapy.
Laxmi Dhungel, Cayla Harris, Lauren Romine, Jan Sarkaria, Drazen Raucher   +4 more
doaj   +1 more source

Induced pluripotent stem cell (iPSC) lines from two individuals carrying a homozygous (BGUi007-A) and a heterozygous (BGUi006-A) mutation in ELP1 for in vitro modeling of familial dysautonomia

Stem Cell Research, 2021
Familial Dysautonomia (FD) is an autosomal recessive congenital neuropathy affecting the development and function of the peripheral nervous system. FD causing gene is IKBKAP, encoding IkappaB kinase complex-associated protein also named elongator complex
Lior Dor, Tatiana Rabinski, Dor Zlotnik, Michal Shilian, Miguel Weil, Gad D. Vatine   +5 more
doaj   +1 more source

Novel Germline ELP1 Splice-Acceptor Variant in NF1-Negative Optic Pathway Glioma: Expanding the Clinical Spectrum Associated With ELP1 Variation. [PDF]

Clin Genet
Latifi A, Yousefian S, Daneshmand MA, Akbari MR.   +3 more
europepmc   +2 more sources

Targeted Drug Delivery Biopolymers Effectively Inhibit Breast Tumor Growth and Prevent Doxorubicin-Induced Cardiotoxicity

Molecules, 2022
The anticancer agent doxorubicin(dox) has been widely used in the treatment of a variety of hematological malignancies and solid tumors. Despite doxorubicin’s efficiency in killing tumor cells, severe damage to healthy tissues, along with cardiotoxicity,
Sonja Dragojevic, Jung Su Ryu, Michael E. Hall, Drazen Raucher   +3 more
doaj   +1 more source

A conserved and essential basic region mediates tRNA binding to the Elp1 subunit of the Saccharomyces cerevisiae Elongator complex [PDF]

, 2014
Elongator is a conserved, multi-protein complex discovered in Saccharomyces cerevisiae, loss of which confers a range of pleiotropic phenotypes. Elongator in higher eukaryotes is required for normal growth and development and a mutation in the largest ...
Bandau, Susanne, Stark, Michael J. R., Di Santo, Rachael   +2 more
core   +1 more source

Research progress of the Elongator complex in plant

Notulae Botanicae Horti Agrobotanici Cluj-Napoca, 2023
The Elongator complex consists of six subunits (ELP1-ELP6), where ELP1-ELP3 forms the core subcomplex and ELP4-ELP6 forms the auxiliary subcomplex. Deletion of any of the six subunits results in an almost identical phenotype, suggesting that all six ...
Ji XIANGZHUO, Zhuang ZELONG, Wang YINXIA, Zhang YUNFANG, Peng YUNLING   +4 more
doaj   +1 more source

Additional file 1 of Elp1 facilitates RAD51-mediated homologous recombination repair via translational regulation

, 2021
Additional file 1. Elp1 facilitates RAD51-mediated homologous recombination repair via translational regulation. Figure S1. Schematic of the Elp1 mutant allele. Figure S2. qRT-PCR analysis of the Elp1 mRNA expression by D3 MEFs. Figure S3.
Fu-Jung Lin (11753872), Liuh-Yow Chen (11753869), Peter Chi (176651), Chung-Lin Jiang (8893175), Wei-Ting Chen (167673), Chih-Ying Lee (162089), I-Ching Wang (348231), Kai-Yin Lo (3843754), Huan-Yi Tseng (2710474)   +8 more
core   +1 more source

Norepinephrine transporter defects lead to sympathetic hyperactivity in Familial Dysautonomia models

Nature Communications, 2022
Sympathetic neurons are affected in familial dysautonomia, a rare disease associated with a mutation in ELP1, but the mechanisms are not fully understood.
Hsueh-Fu Wu, Wenxin Yu, Kenyi Saito-Diaz, Chia-Wei Huang, Joseph Carey, Frances Lefcort, Gerald W. Hart, Hong-Xiang Liu, Nadja Zeltner   +8 more
doaj   +1 more source

Germline Elongator mutations in Sonic Hedgehog medulloblastoma. [PDF]

, 2020
Cancer genomics has revealed many genes and core molecular processes that contribute to human malignancies, but the genetic and molecular bases of many rare cancers remains unclear.
Smith, Kyle S., Feychting, Maria, Smith, Kyle S, Chintagumpala, Murali, Wainwright, Brandon J., Ellison, David W., Dufour, Christelle, Gudenas, Brian L., Orr, Brent A, Korshunov, Andrey, Smith, Amy, Rusch, Michael, Kuehni, Claudia, Sharma, Tanvi, Ellison, David W, Grotzer, Michael, Nichols, Kim E., Jones, David, Hadley, Jennifer, Vasilyeva, Aksana, Kjaerheim, Kristina, Jäger, Natalie, Andersen, Tina V, Ellison, David, Lannering, Birgitta, Lombard, Bérangère, Andersen, Tina V., Bowers, Daniel C, Pfister, Stefan M, Pfister, Stefan, Nichols, Kim, Northcott, Paul, Gottardo, Nicholas, Tatevossian, Ruth G., Gajjar, Amar, Northcott, Paul A, Nakitandwe, Joy, Robinson, Giles, Puget, Stéphanie, Hamilton, Kayla V, Kuehni, Claudia E., Rausch, Tobias, Kool, Marcel, Wesenberg, Finn, Lichter, Peter, Korbel, Jan O, Sturm, Dominik, Buchhalter, Ivo, Gudenas, Brian, Partap, Sonia, Tatevossian, Ruth G, Northcott, Paul A., Rutkowski, Stefan, Orr, Brent A., Witt, Olaf, Smith, Kyle, Loew, Damarys, Ryzhova, Marina, Wainwright, Brandon J, Hamilton, Kayla V., Pfister, Stefan M., Garcia-Lopez, Jesus, Jones, David T W, Milde, Till, Eggen, Tone, Korbel, Jan, Waszak, Sebastian M, Pajtler, Kristian, Brugieres, Laurence, Röösli, Martin, Orr, Brent, Neale, Geoffrey, Bendel, Anne, Wainwright, Brandon, Hamilton, Kayla, Jones, David T.W., Gudenas, Brian L, Pajtler, Kristian W., Korbel, Jan O., Andersen, Tina, Kojic, Marija, Indersie, Emilie, Tatevossian, Ruth, Forget, Antoine, Robinson, Giles W, Gottardo, Nicholas G, Bowers, Daniel C., Waszak, Sebastian M., Remke, Marc, Nichols, Kim E, Bowers, Daniel, Jones, David T. W., Kerssemakers, Jules, Waszak, Sebastian, Johansen, Christoffer, Robinson, Giles W., Pajtler, Kristian W, Ayrault, Olivier, Crawford, John, Gottardo, Nicholas G., Schüz, Joachim   +100 more
core   +4 more sources