Gene Therapy with Helper-Dependent Adenoviral Vectors: Current Advances and Future Perspectives

by Vetrini, Francesco, Ng, Philip
Published 2010

Helper-Dependent Adenoviral Vectors

by Rosewell, Amanda, Vetrini, Francesco, Ng, Philip
Published 2011

The Microphthalmia Transcription Factor (Mitf) Controls Expression of the Ocular Albinism Type 1 Gene: Link between Melanin Synthesis and Melanosome Biogenesis

by Vetrini, Francesco, Auricchio, Alberto, Du, Jinyan, Angeletti, Barbara, Fisher, David E., Ballabio, Andrea, Marigo, Valeria
Published 2004

Vasoactive Intestinal Peptide Increases Hepatic Transduction and Reduces Innate Immune Response Following Administration of Helper-dependent Ad

by Vetrini, Francesco, Brunetti-Pierri, Nicola, Palmer, Donna J, Bertin, Terry, Grove, Nathan C, Finegold, Milton J, Ng, Philip
Published 2010

SR-A and SREC-I Are Kupffer and Endothelial Cell Receptors for Helper-dependent Adenoviral Vectors

by Piccolo, Pasquale, Vetrini, Francesco, Mithbaokar, Pratibha, Grove, Nathan C, Bertin, Terry, Palmer, Donna, Ng, Philip, Brunetti-Pierri, Nicola
Published 2013

Generation of a Kupffer Cell-evading Adenovirus for Systemic and Liver-directed Gene Transfer

by Khare, Reeti, May, Shannon M, Vetrini, Francesco, Weaver, Eric A, Palmer, Donna, Rosewell, Amanda, Grove, Nathan, Ng, Philip, Barry, Michael A
Published 2011

Modifications of Adenovirus Hexon Allow for Either Hepatocyte Detargeting or Targeting With Potential Evasion From Kupffer Cells

by Prill, Jan-Michael, Espenlaub, Sigrid, Samen, Ulrike, Engler, Tatjana, Schmidt, Erika, Vetrini, Francesco, Rosewell, Amanda, Grove, Nathan, Palmer, Donna, Ng, Philip, Kochanek, Stefan, Kreppel, Florian
Published 2011

A lysosome-to-nucleus signalling mechanism senses and regulates the lysosome via mTOR and TFEB

by Settembre, Carmine, Zoncu, Roberto, Medina, Diego L, Vetrini, Francesco, Erdin, Serkan, Erdin, SerpilUckac, Huynh, Tuong, Ferron, Mathieu, Karsenty, Gerard, Vellard, Michel C, Facchinetti, Valeria, Sabatini, David M, Ballabio, Andrea
Published 2012

TFEB Links Autophagy to Lysosomal Biogenesis

by Settembre, Carmine, Di Malta, Chiara, Polito, Vinicia Assunta, Arencibia, Moises Garcia, Vetrini, Francesco, Erdin, Serkan, Erdin, Serpil Uckac, Huynh, Tuong, Medina, Diego, Colella, Pasqualina, Sardiello, Marco, Rubinsztein, David C., Ballabio, Andrea
Published 2011

Gene transfer of master autophagy regulator TFEB results in clearance of toxic protein and correction of hepatic disease in alpha-1-anti-trypsin deficiency

by Pastore, Nunzia, Blomenkamp, Keith, Annunziata, Fabio, Piccolo, Pasquale, Mithbaokar, Pratibha, Maria Sepe, Rosa, Vetrini, Francesco, Palmer, Donna, Ng, Philip, Polishchuk, Elena, Iacobacci, Simona, Polishchuk, Roman, Teckman, Jeffrey, Ballabio, Andrea, Brunetti-Pierri, Nicola
Published 2013

Two De Novo Novel Mutations in One SHANK3 Allele in a Patient with Autism and Moderate Intellectual Disability

by Zhu, Wenmiao, Li, Jianli, Chen, Stella, Zhang, Jinglan, Vetrini, Francesco, Braxton, Alicia, Eng, Christine M, Yang, Yaping, Xia, Fan, Keller, Kory L., Okinaka-Hu, Leila, Lee, Chung, Holder, J. Lloyd, Bi, Weimin
Published in Am J Med Genet A (2018)

Familial Autonomic Ganglionopathy Caused by Rare CHRNA3 Genetic Variants

by Shibao, Cyndya A., Joos, Karen, Phillips, John A., Cogan, Joy, Newman, John H., Hamid, Rizwan, Meiler, Jens, Capra, John, Sheehan, Jonathan, Vetrini, Francesco, Yang, Yaping, Black, Bonnie, Diedrich, André, Roberston, David, Biaggioni, Italo
Published in Neurology (2021)

TFEB controls cellular lipid metabolism through a starvation-induced autoregulatory loop

by Settembre, Carmine, De Cegli, Rossella, Mansueto, Gelsomina, Saha, Pradip K., Vetrini, Francesco, Visvikis, Orane, Huynh, Tuong, Carissimo, Annamaria, Palmer, Donna, Klisch, Tiemo Jürgen, Wollenberg, Amanda C., Di Bernardo, Diego, Chan, Lawrence, Irazoqui, Javier E., Ballabio, Andrea
Published 2013

Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder

by Normand, Elizabeth A., Braxton, Alicia, Nassef, Salma, Ward, Patricia A., Vetrini, Francesco, He, Weimin, Patel, Vipulkumar, Qu, Chunjing, Westerfield, Lauren E., Stover, Samantha, Dharmadhikari, Avinash V., Muzny, Donna M., Gibbs, Richard A., Dai, Hongzheng, Meng, Linyan, Wang, Xia, Xiao, Rui, Liu, Pengfei, Bi, Weimin, Xia, Fan, Walkiewicz, Magdalena, Van den Veyver, Ignatia B., Eng, Christine M., Yang, Yaping
Published in Genome Med (2018)

Bi-allelic Mutations in PKD1L1 Are Associated with Laterality Defects in Humans

by Vetrini, Francesco, D’Alessandro, Lisa C.A., Akdemir, Zeynep C., Braxton, Alicia, Azamian, Mahshid S., Eldomery, Mohammad K., Miller, Kathryn, Kois, Chelsea, Sack, Virginia, Shur, Natasha, Rijhsinghani, Asha, Chandarana, Jignesh, Ding, Yan, Holtzman, Judy, Jhangiani, Shalini N., Muzny, Donna M., Gibbs, Richard A., Eng, Christine M., Hanchard, Neil A., Harel, Tamar, Rosenfeld, Jill A., Belmont, John W., Lupski, James R., Yang, Yaping
Published in Am J Hum Genet (2016)

Biallelic loss of function variants in PPP1R21 cause a neurodevelopmental syndrome with impaired endocytic function

by Rehman, Atteeq U., Najafi, Maryam, Kambouris, Marios, Al‐Gazali, Lihadh, Makrythanasis, Periklis, Rad, Abolfazl, Maroofian, Reza, Rajab, Anna, Stark, Zornitza, Hunter, Jill V., Bakey, Zeineb, Tokita, Mari J., He, Weimin, Vetrini, Francesco, Petersen, Andrea, Santoni, Federico A., Hamamy, Hanan, Wu, Kaman, Al‐Jasmi, Fatma, Helmstädter, Martin, Arnold, Sebastian J., Xia, Fan, Richmond, Christopher, Liu, Pengfei, Karimiani, Ehsan Ghayoor, Karami Madani, GholamReza, Lunke, Sebastian, El‐Shanti, Hatem, Eng, Christine M., Antonarakis, Stylianos E., Hertecant, Jozef, Walkiewicz, Magdalena, Yang, Yaping, Schmidts, Miriam
Published in Hum Mutat (2018)

Copy number variant and runs of homozygosity detection by microarrays enabled more precise molecular diagnoses in 11,020 clinical exome cases

by Dharmadhikari, Avinash V., Ghosh, Rajarshi, Yuan, Bo, Liu, Pengfei, Dai, Hongzheng, Al Masri, Sami, Scull, Jennifer, Posey, Jennifer E., Jiang, Allen H., He, Weimin, Vetrini, Francesco, Braxton, Alicia A., Ward, Patricia, Chiang, Theodore, Qu, Chunjing, Gu, Shen, Shaw, Chad A., Smith, Janice L., Lalani, Seema, Stankiewicz, Pawel, Cheung, Sau-Wai, Bacino, Carlos A., Patel, Ankita, Breman, Amy M., Wang, Xia, Meng, Linyan, Xiao, Rui, Xia, Fan, Muzny, Donna, Gibbs, Richard A., Beaudet, Arthur L., Eng, Christine M., Lupski, James R., Yang, Yaping, Bi, Weimin
Published in Genome Med (2019)

Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features

by Zhang, Jing, Gambin, Tomasz, Yuan, Bo, Szafranski, Przemyslaw, Rosenfeld, Jill A., Al Balwi, Mohammed, Alswaid, Abdulrahman, Al-Gazali, Lihadh, Al Shamsi, Aisha, Komara, Makanko, Ali, Bassam R., Roeder, Elizabeth, McAuley, Laura, Roy, Daniel S., Manchester, David K., Magoulas, Pilar, King, Lauren E., Hannig, Vickie, Bonneau, Dominique, Denommé-Pichon, Anne-Sophie, Charif, Majida, Besnard, Thomas, Bézieau, Stéphane, Cogné, Benjamin, Andrieux, Joris, Zhu, Wenmiao, He, Weimin, Vetrini, Francesco, Ward, Patricia A., Cheung, Sau Wai, Bi, Weimin, Eng, Christine M., Lupski, James R., Yang, Yaping, Patel, Ankita, Lalani, Seema R., Xia, Fan, Stankiewicz, Pawel
Published in Hum Genet (2017)

Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features

by Stankiewicz, Paweł, Khan, Tahir N., Szafranski, Przemyslaw, Slattery, Leah, Streff, Haley, Vetrini, Francesco, Bernstein, Jonathan A., Brown, Chester W., Rosenfeld, Jill A., Rednam, Surya, Scollon, Sarah, Bergstrom, Katie L., Parsons, Donald W., Plon, Sharon E., Vieira, Marta W., Quaio, Caio R.D.C., Baratela, Wagner A.R., Acosta Guio, Johanna C., Armstrong, Ruth, Mehta, Sarju G., Rump, Patrick, Pfundt, Rolph, Lewandowski, Raymond, Fernandes, Erica M., Shinde, Deepali N., Tang, Sha, Hoyer, Juliane, Zweier, Christiane, Reis, André, Bacino, Carlos A., Xiao, Rui, Breman, Amy M., Smith, Janice L., Katsanis, Nicholas, Bostwick, Bret, Popp, Bernt, Davis, Erica E., Yang, Yaping
Published in Am J Hum Genet (2017)

Phenotypic expansion in DDX3X – a common cause of intellectual disability in females

by Wang, Xia, Posey, Jennifer E., Rosenfeld, Jill A., Bacino, Carlos A., Scaglia, Fernando, Immken, LaDonna, Harris, Jill M., Hickey, Scott E., Mosher, Theresa M., Slavotinek, Anne, Zhang, Jing, Beuten, Joke, Leduc, Magalie S., He, Weimin, Vetrini, Francesco, Walkiewicz, Magdalena A., Bi, Weimin, Xiao, Rui, Liu, Pengfei, Shao, Yunru, Gezdirici, Alper, Gulec, Elif Y., Jiang, Yunyun, Darilek, Sandra A., Hansen, Adam W., Khayat, Michael M., Pehlivan, Davut, Piard, Juliette, Muzny, Donna M., Hanchard, Neil, Belmont, John W., Van Maldergem, Lionel, Gibbs, Richard A., Eldomery, Mohammad K., Akdemir, Zeynep C., Adesina, Adekunle M., Chen, Shan, Lee, Yi‐Chien, Lee, Brendan, Lupski, James R., Eng, Christine M., Xia, Fan, Yang, Yaping, Graham, Brett H., Moretti, Paolo
Published in Ann Clin Transl Neurol (2018)