Zobrazeno 1 - 10
of 25
pro vyhledávání: '"Adrian G. Todd"'
Autor:
Celine Baligand, Adrian G. Todd, Brittany Lee-McMullen, Ravneet S. Vohra, Barry J. Byrne, Darin J. Falk, Glenn A. Walter
Publikováno v:
Molecular Therapy: Methods & Clinical Development, Vol 7, Iss C, Pp 42-49 (2017)
The development of therapeutic clinical trials for glycogen storage disorders, including Pompe disease, has called for non-invasive and objective biomarkers. Glycogen accumulation can be measured in vivo with 13C MRS. However, clinical implementation
Externí odkaz:
https://doaj.org/article/e444716a03e9418392b4acd95b75a65b
Autor:
Jessica Nicks, Sooyeon Lee, Andrew Harris, Darin J. Falk, Adrian G. Todd, Karla Arredondo, William A. Dunn, Jr., Lucia Notterpek
Publikováno v:
Neurobiology of Disease, Vol 70, Iss , Pp 224-236 (2014)
Charcot–-Marie–Tooth disease type 1A (CMT1A) is a hereditary peripheral neuropathy characterized by progressive demyelination and distal muscle weakness. Abnormal expression of peripheral myelin protein 22 (PMP22) has been linked to CMT1A and is
Externí odkaz:
https://doaj.org/article/7c67bd931cee420da5e511b0d6eb1443
Publikováno v:
Muscle & Nerve. 57:664-671
Introduction: Patients with hereditary peripheral neuropathies exhibit characteristic deformities of the hands and feet and have difficulty ambulating. To examine to what extent neuropathic animals recapitulate these deficits, we studied Trembler J m
Autor:
Darin J. Falk, Thomas C. Foster, Lucia Notterpek, Hannah Bazick, Adrian G. Todd, Robert W. Burgess, Vinita G. Chittoor-Vinod, Kathryn H. Morelli
Publikováno v:
ACS Chemical Neuroscience
Hereditary demyelinating neuropathies linked to peripheral myelin protein 22 (PMP22) involve the disruption of normal protein trafficking and are therefore relevant targets for chaperone therapy. Using a small molecule HSP90 inhibitor, EC137, in cell
Autor:
Darin J. Falk, Roland W. Herzog, Adrian G. Todd, Barry J. Byrne, Phillip A. Doerfler, Sushrusha Nayak, Nathalie Clement
Publikováno v:
Human Gene Therapy. 27:43-59
Pompe disease is a progressive neuromuscular disorder caused by lysosomal accumulation of glycogen from a deficiency in acid alpha-glucosidase (GAA). Replacement of the missing enzyme is available by repeated protein infusions; however, efficacy is l
Autor:
David D. Fuller, Jessica A. McElroy, Glenn A. Walter, Adrian G. Todd, Robert W. Grange, Darin J. Falk, Barry J. Byrne
Publikováno v:
Annals of Neurology. 78:222-234
Gene therapy strategies have the potential to advance treatment options for pediatric neuromuscular disorders. The capacity to restore or preserve integrity and functionality of the neuromuscular junction (NMJ) is presumably limited by multiple facto
Autor:
Barry J. Byrne, Sooyeon Lee, Lucia Notterpek, David D. Fuller, Meghan S. Soustek, Mai K. ElMallah, Darin J. Falk, Adrian G. Todd
Publikováno v:
Human Molecular Genetics. 24:625-636
Pompe disease is a systemic metabolic disorder characterized by lack of acid-alpha glucosidase (GAA) resulting in ubiquitous lysosomal glycogen accumulation. Respiratory and ambulatory dysfunction are prominent features in patients with Pompe yet the
Publikováno v:
Human Molecular Genetics. 22:729-736
Our fundamental understanding of how several thousand diverse RNAs are recognized in the soma, sorted, packaged, transported and localized within the cell is fragmentary. The COPa and COPb proteins of the coatomer protein I (COPI) vesicle complex wer
Autor:
Robert Morse, Philip J. Young, Debra J. Shaw, Adrian G. Todd, Christian L. Lorson, Paul Eggleton
Publikováno v:
Journal of Biochemistry. 147:885-893
The Ewing's sarcoma (EWS) protein is a ubiquitously expressed RNA chaperone. The EWS protein localizes predominantly to the nucleus. Previous reports have suggested that the EWS protein is capable of dimerizing. However, to date this has not been con
Publikováno v:
Biochemical and Biophysical Research Communications. 394:211-216
Childhood spinal muscular atrophy (SMA) is caused by a reduction in survival motor neuron (SMN) protein. SMN is expressed in every cell type, but it is predominantly the lower motor neurones of the spinal cord that degenerate in SMA. SMN has been lin