Zobrazeno 1 - 10
of 117
pro vyhledávání: '"Charlotte J Sumner"'
Autor:
Noam Auslander, Daniel M Ramos, Ivette Zelaya, Hiren Karathia, Thomas O. Crawford, Alejandro A Schäffer, Charlotte J Sumner, Eytan Ruppin
Publikováno v:
Molecular Systems Biology, Vol 16, Iss 12, Pp 1-17 (2020)
Abstract Modifier genes are believed to account for the clinical variability observed in many Mendelian disorders, but their identification remains challenging due to the limited availability of genomics data from large patient cohorts. Here, we pres
Externí odkaz:
https://doaj.org/article/3de22a2ac37c4d438a901282d752a3e5
Autor:
Stephen M. Brown, Aparna S. Ajjarapu, Divya Ramachandra, Laura Blasco‐Pérez, Mar Costa‐Roger, Eduardo F. Tizzano, Charlotte J. Sumner, Katherine D. Mathews
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 11, Iss 11, Pp 3042-3046 (2024)
Abstract Twin girls born at 30 weeks' gestation with spinal muscular atrophy (SMA) received onsasemnogene‐abeparvovec (OA) at 3.5 weeks of life. They had no treatment‐related adverse events, normal acquisition of motor milestones, and normal neur
Externí odkaz:
https://doaj.org/article/d5dc5d12e75c4010864e8957627976d6
Autor:
Beltran Borges, Antonia Varthaliti, Marisa Schwab, Maria T. Clarke, Christopher Pivetti, Nalin Gupta, Cathryn R. Cadwell, Ghiabe Guibinga, Shirley Phillips, Tony Del Rio, Fatih Ozsolak, Denise Imai-Leonard, Lingling Kong, Diana J. Laird, Akos Herzeg, Charlotte J. Sumner, Tippi C. MacKenzie
Publikováno v:
Molecular Therapy: Methods & Clinical Development, Vol 32, Iss 2, Pp 101263- (2024)
Prenatal somatic cell gene therapy (PSCGT) could potentially treat severe, early-onset genetic disorders such as spinal muscular atrophy (SMA) or muscular dystrophy. Given the approval of adeno-associated virus serotype 9 (AAV9) vectors in infants wi
Externí odkaz:
https://doaj.org/article/d01f9d171e174897be32403a75098f3a
Autor:
Ximena Paez-Colasante, Bonnie Seaberg, Tara L Martinez, Lingling Kong, Charlotte J Sumner, Mendell Rimer
Publikováno v:
PLoS ONE, Vol 8, Iss 9, p e75866 (2013)
In the inherited childhood neuromuscular disease spinal muscular atrophy (SMA), lower motor neuron death and severe muscle weakness result from the reduction of the ubiquitously expressed protein survival of motor neuron (SMN). Although SMA mice reca
Externí odkaz:
https://doaj.org/article/11da67e5c8b244fab0da734696be643d
Autor:
Benedikt Goretzki, Christoph Wiedemann, Brett A. McCray, Stefan L. Schäfer, Jasmin Jansen, Frederike Tebbe, Sarah-Ana Mitrovic, Julia Nöth, Ainara Claveras Cabezudo, Jack K. Donohue, Cy M. Jeffries, Wieland Steinchen, Florian Stengel, Charlotte J. Sumner, Gerhard Hummer, Ute A. Hellmich
Publikováno v:
Nature Communications, Vol 14, Iss 1, Pp 1-20 (2023)
Abstract Intrinsically disordered regions (IDRs) are essential for membrane receptor regulation but often remain unresolved in structural studies. TRPV4, a member of the TRP vanilloid channel family involved in thermo- and osmosensation, has a large
Externí odkaz:
https://doaj.org/article/164d0c141a984b619e153ae313a859dd
Autor:
Do Hoon Kwon, Feng Zhang, Brett A. McCray, Shasha Feng, Meha Kumar, Jeremy M. Sullivan, Wonpil Im, Charlotte J. Sumner, Seok-Yong Lee
Publikováno v:
Nature Communications, Vol 14, Iss 1, Pp 1-15 (2023)
Abstract Crosstalk between ion channels and small GTPases is critical during homeostasis and disease, but little is known about the structural underpinnings of these interactions. TRPV4 is a polymodal, calcium-permeable cation channel that has emerge
Externí odkaz:
https://doaj.org/article/331aacbb49b14346b60ba84795aa8594
Autor:
Lingling Kong, Cera W. Hassinan, Florian Gerstner, Jannik M. Buettner, Jeffrey B. Petigrow, David O. Valdivia, Michelle H. Chan-Cortés, Amy Mistri, Annie Cao, Scott Alan McGaugh, Madeline Denton, Stephen Brown, Joshua Ross, Markus H. Schwab, Christian M. Simon, Charlotte J. Sumner
Publikováno v:
Acta Neuropathologica Communications, Vol 11, Iss 1, Pp 1-13 (2023)
Abstract Intercellular communication between axons and Schwann cells is critical for attaining the complex morphological steps necessary for axon maturation. In the early onset motor neuron disease spinal muscular atrophy (SMA), many motor axons are
Externí odkaz:
https://doaj.org/article/25c45114ba4f4f2080e24d582bef0dda
Autor:
Vera, Fridman, Stefan, Sillau, Jacob, Bockhorst, Kaitlin, Smith, Isabella, Moroni, Emanuela, Pagliano, Chiara, Pisciotta, Guiseppe, Piscosquito, Matilde, Laurá, Francesco, Muntoni, Chelsea, Bacon, Shawna, Feely, Tiffany, Grider, Laurie, Gutmann, Rosemary, Shy, Janel, Wilcox, David N, Herrmann, Jun, Li, Sindhu, Ramchandren, Charlotte J, Sumner, Thomas E, Lloyd, John, Day, Carly E, Siskind, Sabrina W, Yum, Reza, Sadjadi, Richard S, Finkel, Steven S, Scherer, Davide, Pareyson, Mary M, Reilly, Michael E, Shy
Publikováno v:
Annals of Neurology. 93:563-576
The paucity of longitudinal natural history studies in MPZ neuropathy remains a barrier to clinical trials. We have completed a longitudinal natural history study in patients with MPZ neuropathies across 13 sites of the Inherited Neuropathies Consort
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dead0248e5001a120aed495b303aa95c
https://doi.org/10.1002/ana.26518
https://doi.org/10.1002/ana.26518
Autor:
Marisa E. Schwab, Shirley Shao, Li Zhang, Billie Lianoglou, Lisa Belter, Jill Jarecki, Mary Schroth, Charlotte J. Sumner, Tippi MacKenzie
Publikováno v:
Prenat Diagn
Prenatal diagnosis, vol 42, iss 11
Prenatal diagnosis, vol 42, iss 11
ObjectiveIn utero SMA treatment could improve survival and neurologic outcomes. We investigated the attitudes of patients and parents with SMA regarding prenatal diagnosis, fetal therapies, and clinical trials.MethodsA multidisciplinary team designed
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0073623ade6a269bfee9e458e416c2c6
https://doi.org/10.1002/pd.6228
https://doi.org/10.1002/pd.6228
Autor:
Do Hoon Kwon, Feng Zhang, Brett A. McCray, Meha Kumar, Jeremy M. Sullivan, Charlotte J. Sumner, Seok-Yong Lee
Publikováno v:
bioRxiv
Crosstalk between ion channels and small GTPases is critical during homeostasis and disease1, but little is known about the structural underpinnings of these interactions. TRPV4 is a polymodal, calcium-permeable cation channel that has emerged as a p
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d327490cb4bcf015a83fff7cfcd70c15
https://europepmc.org/articles/PMC10055143/
https://europepmc.org/articles/PMC10055143/
