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10 results on '"Mascibroda, Lauren G."'

1. Selective CK1α degraders exert antiproliferative activity against a broad range of human cancer cell lines

Author

Nishiguchi, Gisele, Mascibroda, Lauren G., Young, Sarah M., Caine, Elizabeth A., Abdelhamed, Sherif, Kooijman, Jeffrey J., Miller, Darcie J., Das, Sourav, McGowan, Kevin, Mayasundari, Anand, Shi, Zhe, Barajas, Juan M., Hiltenbrand, Ryan, Aggarwal, Anup, Chang, Yunchao, Mishra, Vibhor, Narina, Shilpa, Thomas, Melvin, Loughran, Allister J., Kalathur, Ravi, Yu, Kaiwen, Zhou, Suiping, Wang, Xusheng, High, Anthony A., Peng, Junmin, Pruett-Miller, Shondra M., Daniels, Danette L., Urh, Marjeta, Shelat, Anang A., Mullighan, Charles G., Riching, Kristin M., Zaman, Guido J. R., Fischer, Marcus, Klco, Jeffery M., and Rankovic, Zoran

Published
2024
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2. INTS13 variants causing a recessive developmental ciliopathy disrupt assembly of the Integrator complex

Author

Mascibroda, Lauren G., Shboul, Mohammad, Elrod, Nathan D., Colleaux, Laurence, Hamamy, Hanan, Huang, Kai-Lieh, Peart, Natoya, Singh, Moirangthem Kiran, Lee, Hane, Merriman, Barry, Jodoin, Jeanne N., Sitaram, Poojitha, Lee, Laura A., Fathalla, Raja, Al-Rawashdeh, Baeth, Ababneh, Osama, El-Khateeb, Mohammad, Escande-Beillard, Nathalie, Nelson, Stanley F., Wu, Yixuan, Tong, Liang, Kenney, Linda J., Roy, Sudipto, Russell, William K., Amiel, Jeanne, Reversade, Bruno, and Wagner, Eric J.

Published
2022
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5. INTS13 variants causing a recessive developmental ciliopathy disrupt assembly of the Integrator complex

Author

Reversade, Bruno, Mascibroda, Lauren G.; Shboul, Mohammad; Elrod, Nathan D.; Colleaux, Laurence; Hamamy, Hanan; Huang, Kai-Lieh; Peart, Natoya; Singh, Moirangthem; Lee, Hane; Merriman, Barry; Jodoin, Jeanne N.; Sitaram, Poojitha; Lee, Laura A.; Fathalla, Raja; Al-Rawashdeh, Baeth; Ababneh, Osama; El-Khateeb, Mohammad; Escande-Beillard, Nathalie; Nelson, Stanley F.; Wu, Yixuan; Tong, Liang;Kenney, Linda J.; Roy, Sudipto; Russell, William K.; Amiel, Jeanne; Wagner, Eric J., School of Medicine, Reversade, Bruno, Mascibroda, Lauren G.; Shboul, Mohammad; Elrod, Nathan D.; Colleaux, Laurence; Hamamy, Hanan; Huang, Kai-Lieh; Peart, Natoya; Singh, Moirangthem; Lee, Hane; Merriman, Barry; Jodoin, Jeanne N.; Sitaram, Poojitha; Lee, Laura A.; Fathalla, Raja; Al-Rawashdeh, Baeth; Ababneh, Osama; El-Khateeb, Mohammad; Escande-Beillard, Nathalie; Nelson, Stanley F.; Wu, Yixuan; Tong, Liang;Kenney, Linda J.; Roy, Sudipto; Russell, William K.; Amiel, Jeanne; Wagner, Eric J., and School of Medicine

Abstract

Oral-facial-digital (OFD) syndromes are a heterogeneous group of congenital disorders characterized by malformations of the face and oral cavity, and digit anomalies. Mutations within 12 cilia-related genes have been identified that cause several types of OFD, suggesting that OFDs constitute a subgroup of developmental ciliopathies. Through homozygosity mapping and exome sequencing of two families with variable OFD type 2, we identified distinct germline variants in INTS13, a subunit of the Integrator complex. This multiprotein complex associates with RNA Polymerase II and cleaves nascent RNA to modulate gene expression. We determined that INTS13 utilizes its C-terminus to bind the Integrator cleavage module, which is disrupted by the identified germline variants p.S652L and p.K668Nfs*9. Depletion of INTS13 disrupts ciliogenesis in human cultured cells and causes dysregulation of a broad collection of ciliary genes. Accordingly, its knockdown in Xenopus embryos leads to motile cilia anomalies. Altogether, we show that mutations in INTS13 cause an autosomal recessive ciliopathy, which reveals key interactions between components of the Integrator complex. The integrator complex is required for the synthesis of protein coding and non-coding RNA and contains the protein INTS13. Here, the authors find germline mutations in INTS13 in two families with oral facial digital syndrome and show that the mutation affects the c-terminal domain of the protein and disrupts cilliogenesis., We thank all families for partaking in this study. The authors would also like to thank members of their team for technical assistance and fruitful discussions. This work was supported by the UCLA California Center for Rare Diseases to H.L., S.F.N. and by a grant from the French Ministry of Health to J.A. This work was supported by the National Institutes of Health grant R01-GM134539 (E.J.W.), and the Welch Foundation grant H-1889 to The University of Texas Medical Branch at Galveston (E.J.W.). The UTMB Mass Spectrometry Facility is supported in part by The Cancer Prevention Research Institute of Texas (CPRIT) grant number RP190682 (W.K.R). M.K.S. was supported by CPRIT grant number P71709- B01. M.Singh was supported by CPRT RP200650 and L.J.K. was supported by a Texas STAR award. B.R. is a fellow of the Branco Weiss Foundation, an NRF Investigator, Young EMBO Investigator and recipient of inaugural UIBR funding from the Biomedical Research Council, A*STAR, Singapore.

Published
2022

6. INTS13Mutations Causing a Developmental Ciliopathy Disrupt Integrator Complex Assembly

Author

Mascibroda, Lauren G., primary, Shboul, Mohammad, additional, Elrod, Nathan D., additional, Colleaux, Laurence, additional, Hamamy, Hanan, additional, Huang, Kai-Lieh, additional, Peart, Natoya, additional, Singh, Moirangthem Kiran, additional, Lee, Hane, additional, Merriman, Barry, additional, Jodoin, Jeanne N., additional, Lee, Laura A., additional, Fathalla, Raja, additional, Al-Rawashdeh, Baeth, additional, Ababneh, Osama, additional, El-Khateeb, Mohammad, additional, Escande-Beillard, Nathalie, additional, Nelson, Stanley F., additional, Wu, Yixuan, additional, Tong, Liang, additional, Kenney, Linda J., additional, Russell, William K., additional, Amiel, Jeanne, additional, Reversade, Bruno, additional, and Wagner, Eric J., additional

Published
2020
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9. Explorative Study on Isolation and Characterization of a Microviridae G4 Bacteriophage, EMCL318, against Multi-Drug-resistant Escherichia coli 15-318.

Author

Ghosh, Soumya, Persad, Emma, Shiue, Ting-Yun, Lam, Cindy, Islam, Afsana, Mascibroda, Lauren G., Sherman, Michael B., Smith, Thomas, and Cheeptham, Naowarat

Subjects
WATER sampling, ESCHERICHIA coli, WASTEWATER treatment
Abstract

Bacteriophages screened and isolated from sewage water samples exhibited antibacterial activities against multi-drug-resistant Escherichia coli strains. Five different water samples from Canadian habitats such as Kamloops Wastewater Treatment Center, Domtar, the Pacific Ocean, Bisaro Anima Cave, and alkali ponds, were used in this study. Four Enterobacteriaceae strains including one non-resistant and three clinical multi-drug Escherichia coli strains (E. coli 15-102, E. coli 15-124, and E. coli 15-318) were selected as target bacteria to screen for the bacteriophages from these collected water samples. Seeded agar assay technique was implemented for the screening. It was found that only sewage water sample exhibited a significant number of plaques count with the E. coli 15-318 (1.82 × 102 plaques/plate) cells in comparison to E. coli non-resistant strain K12 (8 plaques/plate). The phage did not produce plaques in the E. coli 15-124 and E. coli 15-102 strains. The bacteriophage, designated EMCL318, was isolated, purified, characterized, and identified to belong to the G4 species of the Family Microviridae, GenBank accession number MG563770. This is an explorative study conducted in order to reveal the viruses as alternative potentials to fight against emerging and existing multi-drug-resistant infectious diseases. [ABSTRACT FROM AUTHOR]

Published
2018
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10. INTS13 variants causing a recessive developmental ciliopathy disrupt assembly of the Integrator complex

Author

Lauren G. Mascibroda, Mohammad Shboul, Nathan D. Elrod, Laurence Colleaux, Hanan Hamamy, Kai-Lieh Huang, Natoya Peart, Moirangthem Kiran Singh, Hane Lee, Barry Merriman, Jeanne N. Jodoin, Poojitha Sitaram, Laura A. Lee, Raja Fathalla, Baeth Al-Rawashdeh, Osama Ababneh, Mohammad El-Khateeb, Nathalie Escande-Beillard, Stanley F. Nelson, Yixuan Wu, Liang Tong, Linda J. Kenney, Sudipto Roy, William K. Russell, Jeanne Amiel, Bruno Reversade, Eric J. Wagner, The University of Texas Medical Branch (UTMB), Jordan University of Science and Technology [Irbid, Jordan] (JUST), Marseille medical genetics - Centre de génétique médicale de Marseille (MMG), Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Imagine - Institut des maladies génétiques (IMAGINE - U1163), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Hôpital Universitaire de Genève = University Hospitals of Geneva (HUG), University of California [Los Angeles] (UCLA), University of California (UC), Vanderbilt University Medical Center [Nashville], Vanderbilt University [Nashville], National Center for Diabetes, Endocrinology and Genetics, P.O. Box 13165, Amman 11942, Jordan, The University of Jordan (JU), Koç University, Columbia University [New York], Agency for science, technology and research [Singapore] (A*STAR), Reversade, Bruno, Mascibroda, Lauren G., Shboul, Mohammad, Elrod, Nathan D., Colleaux, Laurence, Hamamy, Hanan, Huang, Kai-Lieh, Peart, Natoya, Singh, Moirangthem, Lee, Hane, Merriman, Barry, Jodoin, Jeanne N., Sitaram, Poojitha, Lee, Laura A., Fathalla, Raja, Al-Rawashdeh, Baeth, Ababneh, Osama, El-Khateeb, Mohammad, Escande-Beillard, Nathalie, Nelson, Stanley F., Wu, Yixuan, Tong, Liang, Kenney, Linda J., Roy, Sudipto, Russell, William K., Amiel, Jeanne, Wagner, Eric J., and School of Medicine

Subjects
Multidisciplinary, Molecular biology, Homozygote, General Physics and Astronomy, Cell Cycle Proteins, Diseases, General Chemistry, Orofaciodigital Syndromes, General Biochemistry, Genetics and Molecular Biology, Ciliopathies, Cilia, Humans, Mutation, Orofaciodigital syndromes, RNA, RNA polymerase II, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, Genetics, RNA Polymerase II, Carrier Proteins
Abstract

Oral-facial-digital (OFD) syndromes are a heterogeneous group of congenital disorders characterized by malformations of the face and oral cavity, and digit anomalies. Mutations within 12 cilia-related genes have been identified that cause several types of OFD, suggesting that OFDs constitute a subgroup of developmental ciliopathies. Through homozygosity mapping and exome sequencing of two families with variable OFD type 2, we identified distinct germline variants in INTS13, a subunit of the Integrator complex. This multiprotein complex associates with RNA Polymerase II and cleaves nascent RNA to modulate gene expression. We determined that INTS13 utilizes its C-terminus to bind the Integrator cleavage module, which is disrupted by the identified germline variants p.S652L and p.K668Nfs*9. Depletion of INTS13 disrupts ciliogenesis in human cultured cells and causes dysregulation of a broad collection of ciliary genes. Accordingly, its knockdown in Xenopus embryos leads to motile cilia anomalies. Altogether, we show that mutations in INTS13 cause an autosomal recessive ciliopathy, which reveals key interactions between components of the Integrator complex. The integrator complex is required for the synthesis of protein coding and non-coding RNA and contains the protein INTS13. Here, the authors find germline mutations in INTS13 in two families with oral facial digital syndrome and show that the mutation affects the c-terminal domain of the protein and disrupts cilliogenesis., We thank all families for partaking in this study. The authors would also like to thank members of their team for technical assistance and fruitful discussions. This work was supported by the UCLA California Center for Rare Diseases to H.L., S.F.N. and by a grant from the French Ministry of Health to J.A. This work was supported by the National Institutes of Health grant R01-GM134539 (E.J.W.), and the Welch Foundation grant H-1889 to The University of Texas Medical Branch at Galveston (E.J.W.). The UTMB Mass Spectrometry Facility is supported in part by The Cancer Prevention Research Institute of Texas (CPRIT) grant number RP190682 (W.K.R). M.K.S. was supported by CPRIT grant number P71709- B01. M.Singh was supported by CPRT RP200650 and L.J.K. was supported by a Texas STAR award. B.R. is a fellow of the Branco Weiss Foundation, an NRF Investigator, Young EMBO Investigator and recipient of inaugural UIBR funding from the Biomedical Research Council, A*STAR, Singapore.

Published
2022
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