Zobrazeno 1 - 10
of 20
pro vyhledávání: '"Karen K Y Ling"'
Publikováno v:
PLoS ONE, Vol 5, Iss 11, p e15457 (2010)
Spinal muscular atrophy (SMA) is a major genetic cause of death in childhood characterized by marked muscle weakness. To investigate mechanisms underlying motor impairment in SMA, we examined the spinal and neuromuscular circuitry governing hindlimb
Externí odkaz:
https://doaj.org/article/1ca25106f6b649498d71c32743533658
Autor:
Nicole Risher, Josephine Sheedy, Hasane Ratni, Zhihua Feng, Xin Zhao, Amal Dakka, Anna Mollin, Catherine Lutz, Karen K. Y. Ling, Ellen Welch, Friedrich Metzger, Marla Weetall, Karen S. Chen, Jana Narasimhan, Nikolai Naryshkin, John D. Baird, Chien-Ping Ko
Publikováno v:
Human Molecular Genetics. 31:82-96
Spinal muscular atrophy (SMA) is caused by the loss of the survival motor neuron 1 (SMN1) gene function. The related SMN2 gene partially compensates but produces insufficient levels of SMN protein due to alternative splicing of exon 7. Evrysdi™ (ri
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0493cbab8f2d616eff8bce8986f5d431
https://doi.org/10.1093/hmg/ddab220
https://doi.org/10.1093/hmg/ddab220
Autor:
Kentaro Sahashi, Karen K. Y. Ling, Yimin Hua, John Erby Wilkinson, Tomoki Nomakuchi, Frank Rigo, Gene Hung, David Xu, Ya‐Ping Jiang, Richard Z. Lin, Chien‐Ping Ko, C. Frank Bennett, Adrian R. Krainer
Publikováno v:
EMBO Molecular Medicine, Vol 5, Iss 10, Pp 1586-1601 (2013)
Abstract Loss‐of‐function mutations in SMN1 cause spinal muscular atrophy (SMA), a leading genetic cause of infant mortality. The related SMN2 gene expresses suboptimal levels of functional SMN protein, due to a splicing defect. Many SMA patients
Externí odkaz:
https://doaj.org/article/02f20b7d6ba64acfbfeeba4de2cef7d3
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:
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
Autor:
Marla Weetall, Nikolai Naryshkin, Karen K. Y. Ling, Hasane Ratni, Chien-Ping Ko, Karen S. Chen, Xin Zhao, Ellen Welch, Friedrich Metzger, Gary Mitchell Karp, Sergey Paushkin, Chunyi Zhou, Zhihua Feng
Publikováno v:
Human Molecular Genetics. 25:964-975
Spinal muscular atrophy (SMA) is a genetic disease characterized by atrophy of muscle and loss of spinal motor neurons. SMA is caused by deletion or mutation of the survival motor neuron 1 (SMN1) gene, and the nearly identical SMN2 gene fails to gene
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::89c5d979e063214e9816d6aa839b535b
https://doi.org/10.1093/hmg/ddv629
https://doi.org/10.1093/hmg/ddv629
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
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::e6f0aa06087e3254902e2dc84a350c8f
https://doi.org/10.1093/hmg/ddaa247
https://doi.org/10.1093/hmg/ddaa247
Autor:
Chien-Ping Ko, Luca Santarelli, Hasane Ratni, Roland Schmucki, Maureen S. Lynes, Josephine Sheedy, Sergey Paushkin, Chang-Sun Lee, Irene Gerlach, Jesse L. Mull, Nanjing Zhang, Zhihua Feng, Anthony Turpoff, Anuradha Bhattacharyya, Paulo Fontoura, Priya Vazirani, Panayiota Trifillis, Gary Mitchell Karp, Joseph M. Colacino, Martin Ebeling, Kathleen D. McCarthy, John Babiak, Woll Matthew G, Hongyan Qi, Nikolai Naryshkin, Manaswini Sivaramakrishnan, Lee L. Rubin, Jana Narasimhan, Neil Gregory Almstead, Vijayalakshmi Gabbeta, Amal Dakka, Loren A. Eng, Xin Zhao, Nicole Risher, Young-Choon Moon, Marla Weetall, Jiyuan Ma, Karen K. Y. Ling, Stuart W. Peltz, Ellen Welch, Friedrich Metzger, Guangming Chen, Bansri Furia, Daniel Haehnke, Ronald Kong, Anirvan Ghosh, Xiaoyan Zhang, Karen S. Chen
Publikováno v:
Science. 345:688-693
Drugs that provide the splice of life Motor neurons relay signals from the nervous system to muscle fibers. In patients with spinal muscular atrophy, a protein required for the survival of these neurons is deficient or missing altogether, so the neur
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::ee00322a0f82a8e7897ded171950628b
https://doi.org/10.1126/science.1250127
https://doi.org/10.1126/science.1250127
Autor:
C. Frank Bennett, Tomoki T. Nomakuchi, Karen K. Y. Ling, Richard Z. Lin, Yimin Hua, Gene Hung, Ya Ping Jiang, Chien-Ping Ko, Kentaro Sahashi, Frank Rigo, John E. Wilkinson, Adrian R. Krainer, David Xu
Publikováno v:
EMBO Molecular Medicine
Loss-of-function mutations in SMN1 cause spinal muscular atrophy (SMA), a leading genetic cause of infant mortality. The related SMN2 gene expresses suboptimal levels of functional SMN protein, due to a splicing defect. Many SMA patients reach adulth
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6ea8ab3f31e0e5d89cdc5399e168ecee
https://doi.org/10.1002/emmm.201302567
https://doi.org/10.1002/emmm.201302567
Autor:
Edmund Kwok-Kwan Tung, Nina L. Siow, Joy X.S. Jiang, Karen K. Y. Ling, Roy Chi Yan Choi, Karl Wah Keung Tsim, Eric A. Barnard, Joseph Simon
Publikováno v:
Molecular Pharmacology. 66:794-806
At the vertebrate neuromuscular junction (nmj), ATP is known to be coreleased with acetylcholine from the synaptic vesicles. We have previously shown that the P2Y1 receptor is localized at the nmj. Here, we extend the findings to show that another nu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::707499ac3a9e0ab277c5a85168f90aab
https://doi.org/10.1124/mol.104.003269
https://doi.org/10.1124/mol.104.003269