Zobrazeno 1 - 10
of 23
pro vyhledávání: '"Sarah Tisdale"'
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:
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
Publikováno v:
PLoS ONE, Vol 5, Iss 4, p e9942 (2010)
Stress granules (SGs) are cytoplasmic foci at which untranslated mRNAs accumulate in cells exposed to environmental stress. We have identified ornithine decarboxylase (ODC), an enzyme required for polyamine synthesis, and eIF5A, a polyamine (hypusine
Externí odkaz:
https://doaj.org/article/2272f4ad301f48e9bf9b5ae5c949be14
Publikováno v:
Cell reports. 40(12)
The neuromuscular junction (NMJ) is an essential synapse for animal survival whose loss is a key hallmark of neurodegenerative diseases such as amyotrophic lateral sclerosis (ALS) and spinal muscular atrophy (SMA). While insights into the function of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::15884961cf93561ff1886b219640e788
https://pubmed.ncbi.nlm.nih.gov/36130491
https://pubmed.ncbi.nlm.nih.gov/36130491
Autor:
Christian L. Lorson, Erkan Y. Osman, J. Chris Pires, Sarah Tisdale, Yue Hao, Eric Villalón, Madeline R. Bolding, Kevin A. Kaifer, Livio Pellizzoni, Gavin C. Conant, Zachary C Lorson
Publikováno v:
Scientific Reports, Vol 9, Iss 1, Pp 1-12 (2019)
Scientific Reports
Scientific Reports
Spinal Muscular Atrophy (SMA) is a monogenic neurodegenerative disorder and the leading genetic cause of infantile mortality. While several functions have been ascribed to the SMN (survival motor neuron) protein, their specific contribution to the di
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::edfdfd5151da0253ae63c116c75af9ef
http://link.springer.com/article/10.1038/s41598-019-45822-8
http://link.springer.com/article/10.1038/s41598-019-45822-8
Autor:
Christopher A. Achorn, Pavel Ivanov, Sarah Tisdale, Gerald M. McInerney, Nancy Kedersha, Marc D. Panas, Tyler T. Hickman, Judy Lieberman, Marshall P. Thomas, Shawn M. Lyons, Paul A. Anderson
Publikováno v:
The Journal of Cell Biology
Stress granule condensation (SGC) of translationally arrested mRNAs requires G3BP, and G3BP-mediated SGC is inhibited by serine 149 phosphorylation, regulated by mutually exclusive binding of Caprin1 and USP10, and requires its RGG region for SGC and
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::047c73e117b127895076c8e8d4171600
https://pubmed.ncbi.nlm.nih.gov/27022092
https://pubmed.ncbi.nlm.nih.gov/27022092
Autor:
George Z. Mentis, Francesco Lotti, Meaghan Van Alstyne, Christian M. Simon, Sarah Tisdale, Livio Pellizzoni, Elena Bianchetti
Publikováno v:
Cell reports
Cell Reports, Vol 29, Iss 12, Pp 3885-3901.e5 (2019)
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 e
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::98e41be442b80757a91f2cca43696076
Autor:
Ellen Welch, Friedrich Metzger, Sergey Paushkin, Karen K. Y. Ling, Jana Narasimhan, Gary Mitchell Karp, Nikolai Naryshkin, Anna Mollin, Hasane Ratni, Janet Petruska, Zhihua Feng, Xin Zhao, Francesco Lotti, Shirley Yeh, Sarah Tisdale, Josephine Sheedy, Amal Dakka, Marla Weetall, Livio Pellizzoni, Karen S. Chen, Chien-Ping Ko
Publikováno v:
Human Molecular Genetics
Spinal muscular atrophy (SMA) is caused by the loss or mutation of both copies of the survival motor neuron 1 (SMN1) gene. The related SMN2 gene is retained, but due to alternative splicing of exon 7, produces insufficient levels of the SMN protein.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3ed8c05b8775b843583b034c7fb00de8
https://doi.org/10.1093/hmg/ddw062
https://doi.org/10.1093/hmg/ddw062