Results 41 to 50 of about 990 (176)

Regulation of physiological and pathological condensates by molecular chaperones. [PDF]

FEBS J
Mounting evidence suggests that stress granules (SGs), dynamic membraneless compartments involved in cellular stress responses, can transition into pathological condensates upon improper disassembly. This review discusses the evidence supporting this notion.
Akaree N, Secco V, Levy-Adam F, Younis A, Carra S, Shalgi R.   +5 more
europepmc   +2 more sources

Substantial deficiency of free sialic acid in muscles of patients with GNE myopathy and in a mouse model. [PDF]

PLoS ONE, 2017
GNE myopathy (GNEM), also known as hereditary inclusion body myopathy (HIBM), is a late- onset, progressive myopathy caused by mutations in the GNE gene encoding the enzyme responsible for the first regulated step in the biosynthesis of sialic acid (SA).
Yiumo Michael Chan, Paul Lee, Steve Jungles, Gabrielle Morris, Jaclyn Cadaoas, Alison Skrinar, Michel Vellard, Emil Kakkis   +7 more
doaj   +1 more source

Quantum Tunneling in Nuclear Fusion [PDF]

, 1997
Recent theoretical advances in the study of heavy ion fusion reactions below the Coulomb barrier are reviewed. Particular emphasis is given to new ways of analyzing data, such as studying barrier distributions; new approaches to channel coupling, such as
A. B. Balantekin, Abe, M., Ackermann, D., Ackermann, D., Ackermann, D., Aguiar, C. E., Andres, M. V., Aprahamian, A., Arima, A., Aritomo, Y., Baba, C. V. K., Back, B. B., Balantekin, A. B., Balantekin, A. B., Balantekin, A. B., Balantekin, A. B., Balantekin, A. B., Balantekin, A. B., Balantekin, A. B., Balantekin, A. B., Balantekin, A. B., Balantekin, A. B., Bass, R., Beckerman, M., Beckerman, M., Bertulani, C., Bierman, J. D., Bierman, J. D., Bjornholm, S., Bonasera, A., Brandan, M. E., Brink, D. M., Brink, D. M., Brink, D. M., Broglia, R. A., Broglia, R. A., Caldeira, A. O., Canto, L. F., Casten, R. F., Casten, R. F., Charlop, A., Chase, D. M., Christley, J. A., Cole, M. W., Dasgupta, M., Dasgupta, M., Dasso, C. H., Dasso, C. H., Dasso, C. H., Dasso, C. H., Dasso, C. H., Dasso, C. H., Denisov, V. Y., Denisov, V. Y., DiGregorio, D. E., DiGregorio, D. E., DiGregorio, D. E., Esbensen, H., Esbensen, H., Esbensen, H., Esbensen, H., Esbensen, H., Esbensen, H., Fernandez-Niello, J. O., Fischer, R. D., Galetti, D., Galetti, D., Ginocchio, J. N., Gomez-Camacho, J., Hagino, K., Hagino, K., Hagino, K., Hagino, K., Halbert, M. L., Hill, D. L., Hofmann, S., Hussein, M. S., Hussein, M. S., Hänggi, P., Imanishi, B., Inui, M., Iwamoto, A., Iwamoto, A., Izumoto, T., Jacobs, P. M., Jahnke, U., Jiang, C. L., Kim, K.-H., Kodama, T., Krappe, H. J., Krappe, H. J., Kruppa, A. T., Kuyucak, S., Kuyucak, S., Kuyucak, S., Kuyucak, S., Landowne, S., Leigh, J. R., Leigh, J. R., Lemmon, R. C., Lindsay, R., Morton, C. R., Möller, P., Müller, B., N. Takigawa, Nagarajan, M. A., Nagarajan, M. A., Poffe, N., Prasad, N. V. S. V., Rehm, K. E., Reisdorf, W., Reisdorf, W., Rhodes-Brown, M. J., Rowley, N., Rowley, N., Rowley, N., Rowley, N., Rowley, N., Sagawa, H., Sahm, C.-C., Satchler, G. R., Schicker, R., Stefanini, A. M., Stefanini, A. M., Stefanini, A. M., Stefanini, A. M., Stefanini, A. M., Stokstad, R. G., Stokstad, R. G., Stokstad, R. G., Takigawa, N., Takigawa, N., Takigawa, N., Takigawa, N., Takigawa, N., Takigawa, N., Takigawa, N., Tanimura, O., Tanimura, O., Thompson, I. J., Timmers, H., Vandenbosch, R., Vandenbosch, R., Vandenbosch, R., von Oertzen, W., Wei, J. X., Wong, C. Y., Wu, J. Q., Wuosmaa, A. H., Yoshida, A.   +149 more
core   +2 more sources

Sequestosome‐1 (p62) expression reveals chaperone‐assisted selective autophagy in immune‐mediated necrotizing myopathies

Brain Pathology, Volume 30, Issue 2, Page 261-271, March 2020., 2020
Abstract Diffuse myofiber necrosis in the context of inflammatory myopathy is the hallmark of immune‐mediated necrotizing myopathy (IMNM). We have previously shown that skeletal muscle fibers of IMNM patients may display nonrimmed vacuoles and sarcoplasmic irregularities. The dysfunctional chaperone activity has been linked to the defective assembly of
Norina Fischer, Corinna Preuße, Josefine Radke, Debora Pehl, Yves Allenbach, Udo Schneider, Eugen Feist, Vincent von Casteleyn, Katrin Hahn, Tobias Ruck, Sven G. Meuth, Hans‐Hilmar Goebel, Rose Graf, Andrew Mammen, Olivier Benveniste, Werner Stenzel   +15 more
wiley   +1 more source

Nationwide patient registry for GNE myopathy in Japan [PDF]

, 2014
BACKGROUND: GNE myopathy is a slowly progressive autosomal recessive myopathy caused by mutations in the GNE (glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase) gene.
En Kimura, Harumasa Nakamura, Ichizo Nishino, Madoka Mori-Yoshimura, Miho Murata, Naohiro Yonemoto, Shin’ichi Takeda, Yukiko K Hayashi   +7 more
core   +1 more source

Hereditary Inclusion Body Myopathy

Pediatric Neurology Briefs, 1998
A new familial, autosomal dominant, myopathy and variant of hereditary inclusion body myopathy (HIBM) is described in 19 members of a large Swedish family followed in the Departments of Pediatrics, Genetics, and Pathology, Sahlgrenska University Hospital,
J Gordon Millichap
doaj   +1 more source

Comparative plasma lipidome between human and cynomolgus monkey: Are plasma polar lipids good biomarkers for diabetic monkeys? [PDF]

, 2011
10.1371/journal.pone.0019731PLoS ...
Shui, G., Stebbins, J.W., Lam, B.D., Cheong, W.F., Lam, S.M., Gregoire, F., Kusonoki, J., Wenk, M.R.   +7 more
core   +2 more sources

Amyloid deposits and inflammatory infiltrates in sporadic inclusion body myositis: the inflammatory egg comes before the degenerative chicken [PDF]

, 2015
International ...
Baziel G. M. van Engelen, David Hilton-Jones, Marco Sandri, Olivier Benveniste, Olivier Boyer, Werner Stenzel   +5 more
core   +3 more sources

Identification of disease genes in rare neurological conditions [PDF]

, 2021
This thesis is about improving diagnosis and treatment to persons affected by rare diseases. Diagnosis before treatment is a principle often told to medical students. But what if a diagnosis can’t be made with the resources and knowledge at hand?
Engvall, Martin
core   +1 more source

Interacting boson fermion-fermion model calculation of the h11/2h11/2 doublet bands in 134Pr [PDF]

, 2004
The interacting boson fermion-fermion model is employed in the analysis of the positive-parity doublet bands in 134Pr. It is shown that stable triaxial deformation gives rise to the experimentally observed crossing between the yrast and yrare bands built
Brant, Slobodan, Ventura, A., Vretenar, Dario   +2 more
core   +3 more sources