Zobrazeno 1 - 10
of 73
pro vyhledávání: '"Livio Pellizzoni"'
Autor:
Casey J. Lumpkin, Ashlee W. Harris, Andrew J. Connell, Ryan W. Kirk, Joshua A. Whiting, Luciano Saieva, Livio Pellizzoni, Arthur H. M. Burghes, Matthew E. R. Butchbach
Publikováno v:
Scientific Reports, Vol 13, Iss 1, Pp 1-19 (2023)
Abstract Proximal spinal muscular atrophy (SMA) is a leading genetic cause for infant death in the world and results from the selective loss of motor neurons in the spinal cord. SMA is a consequence of low levels of SMN protein and small molecules th
Externí odkaz:
https://doaj.org/article/eb658f6859ca4dde9a5401b35ba45f34
Autor:
Tommaso Nuzzo, Rosita Russo, Francesco Errico, Adele D’Amico, Awet G. Tewelde, Mariangela Valletta, Amber Hassan, Michele Tosi, Chiara Panicucci, Claudio Bruno, Enrico Bertini, Angela Chambery, Livio Pellizzoni, Alessandro Usiello
Publikováno v:
Communications Medicine, Vol 3, Iss 1, Pp 1-9 (2023)
Nuzzo, Russo, Errico, D’Amico et al. investigate neuroinflammation in forty-eight pediatric spinal muscular atrophy patients before and after Nusinersen treatment. They find signatures of neuroinflammation that are specifically associated with seve
Externí odkaz:
https://doaj.org/article/265198727fe14af692a98f766aeb74cb
Publikováno v:
PLoS ONE, Vol 17, Iss 8 (2022)
Spinal muscular atrophy (SMA) is a neurodegenerative disease characterized by loss of motor neurons and skeletal muscle atrophy which is caused by ubiquitous deficiency in the survival motor neuron (SMN) protein. Several cellular defects contribute t
Externí odkaz:
https://doaj.org/article/aad86baf743a43f3acc998d95d355fb1
Autor:
Francesco Errico, Carmen Marino, Manuela Grimaldi, Tommaso Nuzzo, Valentina Bassareo, Valeria Valsecchi, Chiara Panicucci, Elia Di Schiavi, Tommaso Mazza, Claudio Bruno, Adele D’Amico, Manolo Carta, Anna Maria D’Ursi, Enrico Bertini, Livio Pellizzoni, Alessandro Usiello
Publikováno v:
Biomolecules, Vol 12, Iss 10, p 1431 (2022)
Intrathecal delivery of Nusinersen–an antisense oligonucleotide that promotes survival motor neuron (SMN) protein induction–is an approved therapy for spinal muscular atrophy (SMA). Here, we employed nuclear magnetic resonance (NMR) spectroscopy
Externí odkaz:
https://doaj.org/article/ce83effeed5340a18bf7eb4ed8c9b6e4
Autor:
Christian M. Simon, Meaghan Van Alstyne, Francesco Lotti, Elena Bianchetti, Sarah Tisdale, D. Martin Watterson, George Z. Mentis, Livio Pellizzoni
Publikováno v:
Cell Reports, Vol 29, Iss 12, Pp 3885-3901.e5 (2019)
Summary: Reduced expression of the survival motor neuron (SMN) protein causes the neurodegenerative disease spinal muscular atrophy (SMA). Here, we show that adeno-associated virus serotype 9 (AAV9)-mediated delivery of Stasimon—a gene encoding an
Externí odkaz:
https://doaj.org/article/3ef4df7377d04d358abb9afb44d3914d
Autor:
Christian M. Simon, Ya Dai, Meaghan Van Alstyne, Charalampia Koutsioumpa, John G. Pagiazitis, Joshua I. Chalif, Xiaojian Wang, Joseph E. Rabinowitz, Christopher E. Henderson, Livio Pellizzoni, George Z. Mentis
Publikováno v:
Cell Reports, Vol 21, Iss 13, Pp 3767-3780 (2017)
The hallmark of spinal muscular atrophy (SMA), an inherited disease caused by ubiquitous deficiency in the SMN protein, is the selective degeneration of subsets of spinal motor neurons. Here, we show that cell-autonomous activation of p53 occurs in v
Externí odkaz:
https://doaj.org/article/a1634632df0f4932992c0e4433d14b16
Autor:
Christian M. Simon, Anna M. Janas, Francesco Lotti, Juan Carlos Tapia, Livio Pellizzoni, George Z. Mentis
Publikováno v:
Cell Reports, Vol 16, Iss 5, Pp 1416-1430 (2016)
In spinal muscular atrophy, a neurodegenerative disease caused by ubiquitous deficiency in the survival motor neuron (SMN) protein, sensory-motor synaptic dysfunction and increased excitability precede motor neuron (MN) loss. Whether central synaptic
Externí odkaz:
https://doaj.org/article/602d7278536e4f6bb353e8e4f38da115
Autor:
Sarah Tisdale, Francesco Lotti, Luciano Saieva, James P. Van Meerbeke, Thomas O. Crawford, Charlotte J. Sumner, George Z. Mentis, Livio Pellizzoni
Publikováno v:
Cell Reports, Vol 5, Iss 5, Pp 1187-1195 (2013)
Spinal muscular atrophy (SMA) is a neurodegenerative disease caused by a deficiency in the survival motor neuron (SMN) protein. SMN mediates the assembly of spliceosomal small nuclear ribonucleoproteins (snRNPs) and possibly other RNPs. Here, we inve
Externí odkaz:
https://doaj.org/article/278524f958d64fd19d72563750c09759
Autor:
Darrick K Li, Sarah Tisdale, Jorge Espinoza-Derout, Luciano Saieva, Francesco Lotti, Livio Pellizzoni
Publikováno v:
PLoS ONE, Vol 8, Iss 8, p e71965 (2013)
Spinal muscular atrophy (SMA) is an inherited neurodegenerative disease caused by homozygous inactivation of the SMN1 gene and reduced levels of the survival motor neuron (SMN) protein. Since higher copy numbers of the nearly identical SMN2 gene redu
Externí odkaz:
https://doaj.org/article/6cbf369d606b4fc8ac5d66e644644542
Autor:
Francesca Gabanella, Matthew E R Butchbach, Luciano Saieva, Claudia Carissimi, Arthur H M Burghes, Livio Pellizzoni
Publikováno v:
PLoS ONE, Vol 2, Iss 9, p e921 (2007)
Spinal muscular atrophy (SMA) is a motor neuron disease caused by reduced levels of the survival motor neuron (SMN) protein. SMN together with Gemins2-8 and unrip proteins form a macromolecular complex that functions in the assembly of small nuclear
Externí odkaz:
https://doaj.org/article/74d88a3550d644a496d9f3cdeb2a7db1