Zobrazeno 1 - 10
of 20
pro vyhledávání: '"Lanfranco Leo"'
Autor:
Thu T. Duong, Vidyullatha Vasireddy, Pavitra Ramachandran, Pamela S. Herrera, Lanfranco Leo, Carrie Merkel, Jean Bennett, Jason A. Mills
Publikováno v:
Stem Cell Research, Vol 27, Iss , Pp 140-150 (2018)
Choroideremia (CHM) is a rare monogenic, X-linked recessive inherited retinal degeneration resulting from mutations in the Rab Escort Protein-1 (REP1) encoding CHM gene. The primary retinal cell type leading to CHM is unknown. In this study, we explo
Externí odkaz:
https://doaj.org/article/cf3438c1f6194219b24035c1fd245aa0
Autor:
Thu T. Duong, James Lim, Vidyullatha Vasireddy, Tyler Papp, Hung Nguyen, Lanfranco Leo, Jieyan Pan, Shangzhen Zhou, H. Isaac Chen, Jean Bennett, Jason A. Mills
Publikováno v:
Stem Cells International, Vol 2019 (2019)
Recombinant adeno-associated virus (rAAV), produced from a nonpathogenic parvovirus, has become an increasing popular vector for gene therapy applications in human clinical trials. However, transduction and transgene expression of rAAVs can differ ac
Externí odkaz:
https://doaj.org/article/81d0b03f3f4247b2a10601923f3480b4
Autor:
Lanfranco Leo, Wenqian Yu, Mitchell D’Rozario, Edward A. Waddell, Daniel R. Marenda, Michelle A. Baird, Michael W. Davidson, Bin Zhou, Bingro Wu, Lisa Baker, David J. Sharp, Peter W. Baas
Publikováno v:
Cell Reports, Vol 12, Iss 11, Pp 1723-1730 (2015)
Individual microtubules (MTs) in the axon consist of a stable domain that is highly acetylated and a labile domain that is not. Traditional MT-severing proteins preferentially cut the MT in the stable domain. In Drosophila, fidgetin behaves in this f
Externí odkaz:
https://doaj.org/article/b42345f0e8274bfb903db081e780ff8a
Autor:
Lucia Gaddini, Marika Villa, Andrea Matteucci, Cinzia Mallozzi, Tamara C. Petrucci, Anna Maria M. Di Stasi, Lanfranco Leo, Fiorella Malchiodi-Albedi, Flavia Pricci
Publikováno v:
Neurobiology of Disease, Vol 35, Iss 2, Pp 278-285 (2009)
The early effects of the diabetic milieu on retinal tissue and their relation to the Renin–Angiotensin system (RAS) activation are poorly known. Here we investigated RAS signaling in retinas explanted from adult rats exposed for 48 h to high glucos
Externí odkaz:
https://doaj.org/article/c91ad7d887d8405ca964f3458cb40559
Autor:
Gerardo Morfini, Lanfranco Leo, Guillermo M. Alexander, Hemalatha Muralidharan, Michelle Swift, Terry Heiman-Patterson, Laura E Hennessy, Liang Qiang, Emanuela Piermarini, Peter W. Baas, Wenqian Yu, Philip L Yates, Michael A. Lane, Theresa Connors, Lyandysha V. Zholudeva, Silvia Fernandes
Publikováno v:
Human Molecular Genetics. 28:1136-1152
Mutations of the SPAST gene, which encodes the microtubule-severing protein spastin, are the most common cause of hereditary spastic paraplegia (HSP). Haploinsufficiency is the prevalent opinion as to the mechanism of the disease, but gain-of-functio
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::392288552928dc5ee37a2ed8f926b06e
https://doi.org/10.1093/hmg/ddy419
https://doi.org/10.1093/hmg/ddy419
Autor:
Ivan Shpylchak, Vidyullatha Vasireddy, Katherine E. Uyhazi, Denise J. Pearson, Zhangyong Wei, Jean Bennett, Lanfranco Leo, Leona W. Serrano, Puya Aravand, Tomas S. Aleman, Brent A. Bell, Jennifer Pham
Publikováno v:
Investigative Ophthalmology & Visual Science
Purpose To determine the therapeutic window for gene augmentation for Leber congenital amaurosis (LCA) associated with mutations in LCA5. Methods Five patients (ages 6-31) with LCA and biallelic LCA5 mutations underwent an ophthalmic examination incl
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c10a9b77b46bc6bacc44c2d13496703c
http://europepmc.org/articles/PMC7405811
http://europepmc.org/articles/PMC7405811
Autor:
Patsy M. Nishina, Jeannette L. Bennicelli, Jieyan Pan, Ji Yun Song, Frans P.M. Cremers, Tomas S. Aleman, Ilan McNamara, Shangzhen Zhou, Gui-Shuang Ying, Junwei Sun, Lanfranco Leo, Puya Aravand, Pamela S. Herrera, Arkady Lyubarsky, Ivan Shpylchak, Zhangyong Wei, Albert M. Maguire, Sergei Nikonov, Jennifer Pham, Robert K. Koenekoop, Wei Pan, Daniel J Bennett, Ronald Roepman, Jimmy de Melo, Jason A. Mills, Nicoletta Commins, Anneke I. den Hollander, Jean Bennett
Publikováno v:
Molecular Therapy, 26, 1581-1593
Molecular Therapy, 26, 6, pp. 1581-1593
Molecular Therapy, 26, 6, pp. 1581-1593
Item does not contain fulltext Most genetically distinct inherited retinal degenerations are primary photoreceptor degenerations. We selected a severe early onset form of Leber congenital amaurosis (LCA), caused by mutations in the gene LCA5, in orde
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d3b80acd76e10a6b2b81dbe0a0d9eb96
https://doi.org/10.1016/j.ymthe.2018.03.015
https://doi.org/10.1016/j.ymthe.2018.03.015
Autor:
Lanfranco Leo, Scott T. Brady, Minsu Kang, Carina Weissmann, Matthew R. Burns, Liang Qiang, Gerardo Morfini, Peter W. Baas, Yuyu Song
Publikováno v:
CONICET Digital (CONICET)
Consejo Nacional de Investigaciones Científicas y Técnicas
instacron:CONICET
Consejo Nacional de Investigaciones Científicas y Técnicas
instacron:CONICET
Mutations of various genes cause hereditary spastic paraplegia (HSP), a neurological disease involving dying-back degeneration of upper motor neurons. From these, mutations in the SPAST gene encoding the microtubule-severing protein spastin account f
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2754108d117df895d0c2c44e4a4d296e
https://doi.org/10.1093/hmg/ddx125
https://doi.org/10.1093/hmg/ddx125
Publikováno v:
Cytoskeleton. 73:442-460
Neurons are terminally differentiated cells that use their microtubule arrays not for cell division but rather as architectural elements required for the elaboration of elongated axons and dendrites. In addition to acting as compression-bearing strut
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::574cac9a585b681449dcef0c48e4f0a5
https://doi.org/10.1002/cm.21286
https://doi.org/10.1002/cm.21286
Autor:
Lanfranco Leo, Ian D. Krantz, Alyssa L. Gagne, Zhe Zhang, Jesus A Tintos-Hernandez, Deborah McEldrew, Xilma R. Ortiz-Gonzalez, Jason A. Mills, Pamela S. Herrera, Ramakrishnan Rajagopalan, Maninder Kaur
Publikováno v:
Scientific Reports, Vol 8, Iss 1, Pp 1-13 (2018)
Cornelia de Lange syndrome (CdLS) is a complex disorder with multiple structural and developmental defects caused by mutations in structural and regulatory proteins involved in the cohesin complex. NIPBL, a cohesin regulatory protein, has been identi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5d7be4e6e5af4b0da7a0489ce63a2f65
https://doi.org/10.1038/s41598-018-19173-9
https://doi.org/10.1038/s41598-018-19173-9