Zobrazeno 1 - 10
of 46
pro vyhledávání: '"Sergey Paushkin"'
Autor:
Manaswini Sivaramakrishnan, Kathleen D. McCarthy, Sébastien Campagne, Sylwia Huber, Sonja Meier, Angélique Augustin, Tobias Heckel, Hélène Meistermann, Melanie N. Hug, Pascale Birrer, Ahmed Moursy, Sarah Khawaja, Roland Schmucki, Nikos Berntenis, Nicolas Giroud, Sabrina Golling, Manuel Tzouros, Balazs Banfai, Gonzalo Duran-Pacheco, Jens Lamerz, Ying Hsiu Liu, Thomas Luebbers, Hasane Ratni, Martin Ebeling, Antoine Cléry, Sergey Paushkin, Adrian R. Krainer, Frédéric H.-T. Allain, Friedrich Metzger
Publikováno v:
Nature Communications, Vol 8, Iss 1, Pp 1-13 (2017)
Small molecules correcting the splicing deficit of the survival of motor neuron 2 (SMN2) gene have been identified as having therapeutic potential. Here, the authors provide evidence that SMN2 mRNA forms a ribonucleoprotein complex that can be specif
Externí odkaz:
https://doaj.org/article/86ed63c63e664f938352b802e813bfcc
Autor:
Zhihua Feng, Steven Lam, Elena-Marie Sandino Tenn, Arundhati Sengupta Ghosh, Sarah Cantor, Wei Zhang, Pei-Fen Yen, Karen S. Chen, Steven Burden, Sergey Paushkin, Gai Ayalon, Chien-Ping Ko
Publikováno v:
International Journal of Molecular Sciences, Vol 22, Iss 15, p 8015 (2021)
Spinal muscular atrophy (SMA) is a motor neuron disease caused by insufficient levels of the survival motor neuron (SMN) protein. One of the most prominent pathological characteristics of SMA involves defects of the neuromuscular junction (NMJ), such
Externí odkaz:
https://doaj.org/article/fddf5451bc0d482b93ad0227f75463f5
Autor:
Phillip Zaworski, Katharine M von Herrmann, Shannon Taylor, Sara S Sunshine, Kathleen McCarthy, Nicole Risher, Tara Newcomb, Marla Weetall, Thomas W Prior, Kathryn J Swoboda, Karen S Chen, Sergey Paushkin
Publikováno v:
PLoS ONE, Vol 11, Iss 3, p e0150640 (2016)
Spinal muscular atrophy (SMA) is caused by defects in the survival motor neuron 1 (SMN1) gene that encodes survival motor neuron (SMN) protein. The majority of therapeutic approaches currently in clinical development for SMA aim to increase SMN prote
Externí odkaz:
https://doaj.org/article/61953ef764b14bb3a76139b3823493e7
Autor:
Christian Czech, Wakana Tang, Teodorica Bugawan, Calvin Mano, Carsten Horn, Victor Alejandro Iglesias, Stefanie Fröhner, Phillip G Zaworski, Sergey Paushkin, Karen Chen, Thomas Kremer
Publikováno v:
PLoS ONE, Vol 10, Iss 10, p e0139950 (2015)
Spinal muscular atrophy is caused by a functional deletion of SMN1 on Chromosome 5, which leads to a progressive loss of motor function in affected patients. SMA patients have at least one copy of a similar gene, SMN2, which produces functional SMN p
Externí odkaz:
https://doaj.org/article/53d4a02249404fa68e098254b9bca7fb
Autor:
Gai Ayalon, Steven J. Burden, Chien-Ping Ko, Elena-Marie Sandino Tenn, Zhihua Feng, Pei-Fen Yen, Sergey Paushkin, Arundhati Sengupta Ghosh, Karen S. Chen, Sarah Cantor, Steven Lam, Wei Zhang
Publikováno v:
International Journal of Molecular Sciences, Vol 22, Iss 8015, p 8015 (2021)
International Journal of Molecular Sciences
Volume 22
Issue 15
International Journal of Molecular Sciences
Volume 22
Issue 15
Spinal muscular atrophy (SMA) is a motor neuron disease caused by insufficient levels of the survival motor neuron (SMN) protein. One of the most prominent pathological characteristics of SMA involves defects of the neuromuscular junction (NMJ), such
Autor:
Sergey Paushkin, Charlotte J. Sumner, Frank Rigo, Ian Waters, Pamela J. Snyder, Thomas W. Prior, Shannon J. Taylor, Constantin d’Ydewalle, Christine L. Hatem, Nikhil Gupte, Thomas O. Crawford, Daniel A. Norris, John B. Matson, Amal Dakka, Kathryn J. Swoboda, C. Frank Bennett, Phillip G. Zaworski, Nikolai Naryshkin, Vijayalakshmi Gabbeta, Stephanie Klein, Daniel M. Ramos, David Valdivia
Publikováno v:
Journal of Clinical Investigation. 129:4817-4831
BACKGROUND: Spinal muscular atrophy (SMA) is caused by deficient expression of survival motor neuron (SMN) protein. New SMN-enhancing therapeutics are associated with variable clinical benefits. Limited knowledge of baseline and drug-induced SMN leve
Autor:
Karen S. Chen, Kelly Howell, Shaun M. Cote, Karen M. O'Shea, Joseph P. Stains, Sergey Paushkin, Adriana Donovan, Erin Renae Treece, Ramzi J. Khairallah, Alan Buckler, Long Kimberly, Micah T. Webster
Publikováno v:
Human Molecular Genetics
Spinal muscular atrophy (SMA) is a neuromuscular disease characterized by loss of α-motor neurons, leading to profound skeletal muscle atrophy. Patients also suffer from decreased bone mineral density and increased fracture risk. The majority of tre
Autor:
Steven Lam, Young il Lee, Zhihua Feng, Bonnie Seaberg, Chien-Ping Ko, Wesley J. Thompson, Friedrich Metzger, Pei-Fen Yen, Sergey Paushkin, Robert Louis Hastings, Mendell Rimer
Publikováno v:
Scientific Reports, Vol 9, Iss 1, Pp 1-9 (2019)
Scientific Reports
Scientific Reports
Spinal muscular atrophy (SMA) is caused by loss-of-function mutations in the survival of motoneuron gene 1 (SMN1). SMA is characterized by motoneuron death, skeletal muscle denervation and atrophy. Disease severity inversely correlates with copy numb
Autor:
Ellen Welch, Friedrich Metzger, Chunyi Zhou, Zhihua Feng, Hasane Ratni, Nikolai Naryshkin, Chien-Ping Ko, Karen K. Y. Ling, Marla Weetall, Sergey Paushkin, Gary Mitchell Karp, Xin Zhao, Karen S. Chen
Publikováno v:
Human Molecular Genetics. 30:843-843
Autor:
Tianle Yang, Hasane Ratni, Emmanuel Pinard, Nanjing Zhang, Hongyan Qi, Nikolai Naryshkin, Priya Vazirani, Stephan Kirchner, Xiaoyan Zhang, Karen S. Chen, Amal Dakka, Lutz Mueller, Friedrich Metzger, Woll Matthew G, Sergey Paushkin, Xin Zhao, Marla Weetall, Gary Mitchell Karp, Kathleen D. McCarthy, Agnès Poirier, Wolfgang Muster, Pascale David-Pierson, Luke Green, Irene Gerlach, Anthony Turpoff, Dietrich Tuerck
Publikováno v:
Journal of Medicinal Chemistry. 59:6086-6100
Spinal muscular atrophy (SMA) is the leading genetic cause of infant and toddler mortality, and there is currently no approved therapy available. SMA is caused by mutation or deletion of the survival motor neuron 1 (SMN1) gene. These mutations or del