Zobrazeno 1 - 10
of 23
pro vyhledávání: '"Erkan Y Osman"'
Autor:
Rachel A Kline, Kevin A Kaifer, Erkan Y Osman, Francesco Carella, Ariana Tiberi, Jolill Ross, Giuseppa Pennetta, Christian L Lorson, Lyndsay M Murray
Publikováno v:
PLoS Genetics, Vol 13, Iss 3, p e1006680 (2017)
The term "motor neuron disease" encompasses a spectrum of disorders in which motor neurons are the primary pathological target. However, in both patients and animal models of these diseases, not all motor neurons are equally vulnerable, in that while
Externí odkaz:
https://doaj.org/article/d673597e1150452e92e8cc023c4e4a97
Autor:
Laura H Comley, Rachel A Kline, Alison K Thomson, Victoria Woschitz, Eric Villalón Landeros, Erkan Y Osman, Christian L Lorson, Lyndsay M Murray
Publikováno v:
Human Molecular Genetics. 31:3107-3119
Spinal muscular atrophy (SMA) is a childhood motor neuron disease caused by anomalies in the SMN1 gene. Although therapeutics have been approved for the treatment of SMA, there is a therapeutic time window, after which efficacy is reduced. Hallmarks
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ecc408e57e9db246ad93fb393ecb8c8e
https://doi.org/10.1093/hmg/ddac097
https://doi.org/10.1093/hmg/ddac097
Autor:
Jonathan J. Cherry, Erkan Y. Osman, Matthew C. Evans, Sungwoon Choi, Xuechao Xing, Gregory D. Cuny, Marcie A. Glicksman, Christian L. Lorson, Elliot J. Androphy
Publikováno v:
EMBO Molecular Medicine, Vol 5, Iss 7, Pp 1103-1118 (2013)
Abstract Spinal muscular atrophy (SMA) is a neurodegenerative disease that causes progressive muscle weakness, which primarily targets proximal muscles. About 95% of SMA cases are caused by the loss of both copies of the SMN1 gene. SMN2 is a nearly i
Externí odkaz:
https://doaj.org/article/d87b1837bfc644f1a80827699a5c93bc
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:
Anne Rietz, Christian L. Lorson, Kevin J. Hodgetts, Kevin M. Quist, Hrvoje Lusic, Elliot J. Androphy, Erkan Y. Osman
Publikováno v:
Life Science Alliance
We describe drug treatment paradigms that allow investigation of cellular and molecular pathogenesis at different stages of spinal muscular atrophy in a mouse model.
Spinal muscular atrophy (SMA) is a motor neuron disease and the leading genetic
Spinal muscular atrophy (SMA) is a motor neuron disease and the leading genetic
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d43e87b412631ab152dec9e1e8f4596b
https://pubmed.ncbi.nlm.nih.gov/33234679
https://pubmed.ncbi.nlm.nih.gov/33234679
Autor:
Christian L. Lorson, Kevin J. Hodgetts, Kevin M. Quist, Hrvoje Lusic, Erkan Y. Osman, Elliot J. Androphy, Anne Rietz
Spinal muscular atrophy (SMA) is a motor neuron disease and the leading cause of infant mortality. SMA results from insufficient survival motor neuron protein (SMN) levels due to alternative splicing. Antisense oligonucleotides, gene therapy and spli
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::4ae1300fe0016c463fd23a72667b6ea6
https://doi.org/10.1101/2020.08.17.253526
https://doi.org/10.1101/2020.08.17.253526
Autor:
Pei-Fen Yen, Livio Pellizzoni, Christian L. Lorson, Meaghan Van Alstyne, Francesco Lotti, Zhihua Feng, Chien-Ping Ko, Karen K. Y. Ling, Erkan Y. Osman
Publikováno v:
JCI Insight
Spinal muscular atrophy (SMA) is an inherited neuromuscular disorder caused by reduced expression of the survival motor neuron (SMN) protein. SMN has key functions in multiple RNA pathways, including the biogenesis of small nuclear ribonucleoproteins
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::292dd0e5d163f28975b6ab5bd1b7ffa4
https://europepmc.org/articles/PMC7406293/
https://europepmc.org/articles/PMC7406293/
Autor:
Charles W. Washington, Erkan Y. Osman, Dalia Megiddo, Hagar Greif, Madeline E. Simon, Christian L. Lorson
Publikováno v:
Journal of Neuromuscular Diseases. 4:237-249
Background Spinal muscular atrophy (SMA) is a neurodegenerative autosomal recessive disorder characterized by the loss of α-motor neurons. A variety of molecular pathways are being investigated to elevate SMN protein expression in SMA models and in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dff6a3f35ae6ed5350b97291fa951a6a
https://doi.org/10.3233/jnd-170230
https://doi.org/10.3233/jnd-170230
Autor:
Christian L. Lorson, Rachel A. Kline, Erkan Y. Osman, Elliot J. Androphy, Kevin J. Hodgetts, Anne Rietz, Jonathan J. Cherry
Publikováno v:
Scientific Reports, Vol 9, Iss 1, Pp 1-8 (2019)
Scientific Reports
Scientific Reports
Spinal muscular atrophy (SMA) is an autosomal recessive neurodegenerative disorder that causes progressive muscle weakness and is the leading genetic cause of infant mortality worldwide. SMA is caused by the loss of survival motor neuron 1 (SMN1). In
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2f6ec65ad2332b391242600fb6698442
https://doi.org/10.1038/s41598-018-38208-9
https://doi.org/10.1038/s41598-018-38208-9
Autor:
Charles W. Washington, Christian L. Lorson, Kyra M Florea, Allison D. Ebert, Madeline E. Simon, Chiara Mazzasette, Teresa N. Patitucci, Chien-Ping Ko, Erkan Y. Osman, Kevin A. Kaifer
Publikováno v:
Molecular Therapy. 24:1592-1601
Loss of Survival Motor Neuron-1 ( SMN1 ) causes Spinal Muscular Atrophy, a devastating neurodegenerative disease . SMN2 is a nearly identical copy gene; however SMN2 cannot prevent disease development in the absence of SMN1 since the majority of SMN2
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f10711d7ae9b1bf88f69db9eb22a1154
https://doi.org/10.1038/mt.2016.145
https://doi.org/10.1038/mt.2016.145