Zobrazeno 1 - 10
of 16
pro vyhledávání: '"Tomoyuki Awano"'
Autor:
Maoxue Tang, Guangping Gao, Carlos B. Rueda, Hang Yu, David N. Thibodeaux, Tomoyuki Awano, Kristin M. Engelstad, Maria-Jose Sanchez-Quintero, Hong Yang, Fanghua Li, Huapeng Li, Qin Su, Kara E. Shetler, Lynne Jones, Ryan Seo, Jonathan McConathy, Elizabeth M. Hillman, Jeffrey L. Noebels, Darryl C. De Vivo, Umrao R. Monani
Publikováno v:
Nature Communications, Vol 8, Iss 1, Pp 1-15 (2017)
Glut1-deficiency syndrome is a severe neurodevelopmental disorder characterized by low brain glucose and epileptic seizures. Tanget al. show that in model mice, low Glut1 leads to defects of the brain vasculature, and that AAV9-based gene therapy at
Externí odkaz:
https://doaj.org/article/cfe083483d664856ac5c4ced1381ccce
Publikováno v:
PLoS ONE, Vol 7, Iss 9, p e46353 (2012)
The selective vulnerability of motor neurons to paucity of Survival Motor Neuron (SMN) protein is a defining feature of human spinal muscular atrophy (SMA) and indicative of a unique requirement for adequate levels of the protein in these cells. Howe
Externí odkaz:
https://doaj.org/article/ecfa736ce16c41bd994e76877d5bb9ac
Autor:
Jeong-Ki Kim, Narendra N. Jha, Tomoyuki Awano, Charlotte Caine, Kishore Gollapalli, Emily Welby, Seung-Soo Kim, Andrea Fuentes-Moliz, Xueyong Wang, Zhihua Feng, Fusako Sera, Taishi Takeda, Shunichi Homma, Chien-Ping Ko, Lucia Tabares, Allison D. Ebert, Mark M. Rich, Umrao R. Monani
Publikováno v:
Neuron. 111:1423-1439.e4
Autor:
Jonathan McConathy, Guangping Gao, Lynne Jones, Hang Yu, David N. Thibodeaux, Umrao R. Monani, Huapeng Li, Fanghua Li, Darryl C. De Vivo, Kara E. Shetler, Maoxue Tang, Elizabeth M. C. Hillman, Hong Yang, Maria-Jose Sanchez-Quintero, Kristin Engelstad, Carlos B. Rueda, Jeffrey L. Noebels, Tomoyuki Awano, Qin Su, Ryan Seo
Publikováno v:
Nature Communications, Vol 8, Iss 1, Pp 1-15 (2017)
Nature Communications
Nature Communications
Haploinsufficiency of the SLC2A1 gene and paucity of its translated product, the glucose transporter-1 (Glut1) protein, disrupt brain function and cause the neurodevelopmental disorder, Glut1 deficiency syndrome (Glut1 DS). There is little to suggest
Publikováno v:
Neurotherapeutics. 11:786-795
Spinal muscular atrophy (SMA) is a frequently fatal neuromuscular disorder and the most common inherited cause of infant mortality. SMA results from reduced levels of the survival of motor neuron (SMN) protein. Although the disease was first describe
Publikováno v:
Human molecular genetics. 26(13)
Spinal muscular atrophy (SMA) is a common and often fatal neuromuscular disorder caused by low levels of the Survival Motor Neuron (SMN) protein. Amongst the earliest detectable consequences of SMN deficiency are profound defects of the neuromuscular
Publikováno v:
The Journal of Neuroscience. 30:12005-12019
Spinal muscular atrophy (SMA) is a common (∼1:6400) autosomal recessive neuromuscular disorder caused by a paucity of the survival of motor neuron (SMN) protein. Although widely recognized to cause selective spinal motor neuron loss when deficient,
Publikováno v:
Applied Microbiology and Biotechnology. 84:349-356
The marine photosynthetic bacterium Rhodovulum sulfidophilum produces extracellular nucleic acids involved in its flocculation. Previously, we showed that the RNA fraction of these extracellular nucleic acids released into the culture medium contains
Autor:
Dennis P. O'Brien, Gayle C. Johnson, Gary S. Johnson, Natasha J. Olby, Shahnawaz Khan, Sam Long, G. Diane Shelton, Tara Biagi, Philip A. March, Tomoyuki Awano, Claire M. Wade, Jeremy F. Taylor, Kerstin Lindblad-Toh, Izabella Baranowska, Michele Perloski, Joan R. Coates, Martin L. Katz
Publikováno v:
Proceedings of the National Academy of Sciences. 106:2794-2799
Canine degenerative myelopathy (DM) is a fatal neurodegenerative disease prevalent in several dog breeds. Typically, the initial progressive upper motor neuron spastic and general proprioceptive ataxia in the pelvic limbs occurs at 8 years of age or
Autor:
Istvan Sohar, Urs Giger, Joan R. Coates, Gayle C. Johnson, Peter Lobel, Tomoyuki Awano, Shahnawaz Khan, Gary S. Johnson, Dennis P. O'Brien, Martin L. Katz
Publikováno v:
Molecular Genetics and Metabolism. 89:254-260
The neuronal ceroid lipofuscinoses (NCLs) are inherited lysosomal storage diseases characterized by progressive neuropathy and the accumulation of autofluorescent cytoplasmic granules. Clinical signs of a new canine NCL began in a 9-month-old male Da