Zobrazeno 1 - 10
of 123
pro vyhledávání: '"Charlotte J, Sumner"'
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:
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:
Arens Taga, Margo A. Peyton, Benedikt Goretzki, Thomas Q. Gallagher, Ann Ritter, Amy Harper, Thomas O. Crawford, Ute A. Hellmich, Charlotte J. Sumner, Brett A. McCray
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 9, Iss 3, Pp 375-391 (2022)
Abstract Objective Distinct dominant mutations in the calcium‐permeable ion channel TRPV4 (transient receptor potential vanilloid 4) typically cause nonoverlapping diseases of either the neuromuscular or skeletal systems. However, accumulating evid
Externí odkaz:
https://doaj.org/article/55b4815090ee4ddda93b31e6a1e0a6ea
Autor:
Brett A. McCray, Erika Diehl, Jeremy M. Sullivan, William H. Aisenberg, Nicholas W. Zaccor, Alexander R. Lau, Dominick J. Rich, Benedikt Goretzki, Ute A. Hellmich, Thomas E. Lloyd, Charlotte J. Sumner
Publikováno v:
Nature Communications, Vol 12, Iss 1, Pp 1-17 (2021)
TRPV4 dominant mutations cause neuropathy. Here, the authors show that TRPV4 binds and interacts with RhoA, modulating the actin cytoskeleton. Neuropathy-causing mutations of TRPV4 disrupt this complex, leading to RhoA activation and impairment of ne
Externí odkaz:
https://doaj.org/article/c12c32fb25af4c0fbec8907050b017a1
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:
Brian M. Woolums, Brett A. McCray, Hyun Sung, Masashi Tabuchi, Jeremy M. Sullivan, Kendra Takle Ruppell, Yunpeng Yang, Catherine Mamah, William H. Aisenberg, Pamela C. Saavedra-Rivera, Bryan S. Larin, Alexander R. Lau, Douglas N. Robinson, Yang Xiang, Mark N. Wu, Charlotte J. Sumner, Thomas E. Lloyd
Publikováno v:
Nature Communications, Vol 11, Iss 1, Pp 1-17 (2020)
Mutations in the TRPV4 channel cause inherited neurodegeneration syndromes, but the molecular mechanisms are unknown. Here the authors reveal that TRPV4 activation causes dose-dependent, CaMKII-mediated neuronal dysfunction and axonal degeneration vi
Externí odkaz:
https://doaj.org/article/27caf567bfbb4b33b6d71b47ffe0ae8f
Autor:
Payam Mohassel, Teerin Liewluck, Ying Hu, Daniel Ezzo, Tracy Ogata, Dimah Saade, Sarah Neuhaus, Véronique Bolduc, Yaqun Zou, Sandra Donkervoort, Livija Medne, Charlotte J. Sumner, P. James B. Dyck, Klaas J. Wierenga, Gihan Tennekoon, Richard S. Finkel, Jiani Chen, Thomas L. Winder, Nathan P. Staff, A. Reghan Foley, Manuel Koch, Carsten G. Bönnemann
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 6, Iss 10, Pp 1980-1988 (2019)
Abstract Objective To characterize the natural history and clinical features of myopathies caused by mono‐allelic, dominantly acting pathogenic variants in COL12A1. Methods Patients with dominant COL12A1‐related myopathies were characterized by h
Externí odkaz:
https://doaj.org/article/8783869b7a1b4355a5a49ddec2739631