TRPV4 disrupts mitochondrial transport and causes axonal degeneration via a CaMKII-dependent elevation of intracellular Ca2+

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

TRPV4 disrupts mitochondrial transport and causes axonal degeneration via a CaMKII-dependent elevation of intracellular Ca

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. 11(1)

The cation channel transient receptor potential vanilloid 4 (TRPV4) is one of the few identified ion channels that can directly cause inherited neurodegeneration syndromes, but the molecular mechanisms are unknown. Here, we show that in vivo expressi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::0f181e8a5d6b87d7a99c098f7d8617b4
https://pubmed.ncbi.nlm.nih.gov/32616920

Mutations in SLC20A2 are a major cause of familial idiopathic basal ganglia calcification

Autor: Jon E. Berner, Olga Carmona, Bala V. Manyam, Martin Paucar, Henry Brodaty, Giovanni Coppola, Henry L. Paulson, Milena Jankovic, Melissa K. Maisenbacher, John C. Adair, Janice M. Fullerton, Alden Y. Huang, Renee L. Sears, Serge Jaumà, Joanna C. Jen, Joerg Klepper, John L. Goudreau, Jerrold L. Vitek, Daniel H. Geschwind, Beatriz Quintáns, Elizabeth Spiteri, Witoon Mitarnun, Per Svenningsson, Charles A. Williams, Mayana Zatz, Sheila A Simpson, Daniel García-Estevez, Philip B. Mitchell, João Ricardo Mendes de Oliveira, Vladimir S. Kostic, Sandy Chan Hsu, Peter R. Schofield, Jill Goldman, Brent L. Fogel, R. R. Lemos, Michele Yang, Catherine Mamah, Ivana Novakovic, Lisette Nevarez, Pietro Mazzoni, Z. Miedzybrodzka, Agnès Linglart, Paul J. Tuite, Kerrie D. Pierce, Suppachok Wetchaphanphesat, María Jesús Sobrido, Jennifer Mueller, Anthony E. Lang, Matthew Bower, Valerija Dobricic, Suppachok Kirdlarp, Suellen Hopfer

Publikováno v: Dipòsit Digital de la UB
Universidad de Barcelona
Recercat. Dipósit de la Recerca de Catalunya
instname
Repositório Institucional da USP (Biblioteca Digital da Produção Intelectual)
Universidade de São Paulo (USP)
instacron:USP

Familial idiopathic basal ganglia calcification (IBGC) or Fahr's disease is a rare neurodegenerative disorder characterized by calcium deposits in the basal ganglia and other brain regions, which is associated with neuropsychiatric and motor symptoms

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::99acc47edc2ffba13fc014d89bb4073c
http://hdl.handle.net/2445/126473