Results 61 to 70 of about 51,102 (238)

Autophagy in GNE Myopathy [PDF]

, 2013
Muscle diseases represent specific muscle pathology. The characteristic features as hallmarks of diseases have been historically used to diagnose the patients. The “Rimmed vacuole (RV)” (Figures 1) is one of such characteristic features in certain groups of the diseases.
Cho, Anna, Noguchi, Satoru
openaire   +2 more sources

Non‐specific accumulation of glycosphingolipids in GNE myopathy [PDF]

Journal of Inherited Metabolic Disease, 2013
AbstractBackgroundUDP‐GlcNAc 2‐epimerase/ManNAc 6‐kinase (GNE) is a bifunctional enzyme responsible for the first committed steps in the synthesis of sialic acid, a common terminal monosaccharide in both protein and lipid glycosylation. GNE mutations are responsible for a rare autosomal recessive neuromuscular disorder, GNE myopathy (also called ...
Patzel, Katherine A., Yardeni, Tal, Le Poëc-Celic, Erell, Leoyklang, Petcharat, Dorward, Heidi, Alonzi, Dominic S., Kukushkin, Nikolay V., Xu, Bixue, Zhang, Yongmin, Sollogoub, Matthieu, Blériot, Yves, Gahl, William A., Huizing, Marjan, Butters, Terry D.   +13 more
openaire   +3 more sources

Cognitive Hierarchy Theory for Distributed Resource Allocation in the Internet of Things

, 2017
In this paper, the problem of distributed resource allocation is studied for an Internet of Things (IoT) system, composed of a heterogeneous group of nodes compromising both machine-type devices (MTDs) and human-type devices (HTDs).
Abuzainab, Nof, Hong, Choong-Seon, Poor, H. Vincent, Saad, Walid   +3 more
core   +1 more source

GNE myopathy: current update and future therapy [PDF]

Journal of Neurology, Neurosurgery & Psychiatry, 2014
GNE myopathy is an autosomal recessive muscle disease caused by biallelic mutations in GNE, a gene encoding for a single protein with key enzymatic activities, UDP-N-acetylglucosamine 2-epimerase and N-acetylmannosamine kinase, in sialic acid biosynthetic pathway. The diagnosis should be considered primarily in patients presenting with distal weakness (
Ichizo Nishino, Nuria Carrillo-Carrasco, Zohar Argov   +2 more
openaire   +2 more sources

The electric form factor of the neutron and its chiral content

, 2003
Considering the nucleon as a system of confined valence quarks surrounded by pions we derive a Galster-like parameterization of the neutron electric form factor $G_E^n$.
Amendolia, Bebek, Brash, Fermi, Foldy, Friedrich, Galster, Gao, Grabmayr, Hofstadter, Isgur, Kaskulov, Kelly, Kopecky, Leinweber, M. M. Kaskulov, Miller, P. Grabmayr, Platchkov, Schiavilla, Volmer   +20 more
core   +1 more source

The neutron charge form factor in helium-3 [PDF]

, 1998
In order to measure the charge form factor of the neutron, $G^n_E(Q^2)$, one needs to use a neutron bound in a nuclear target. We calculate the change in the form factor for a neutron bound in $^3He$, with respect to the free case, using several versions
A.G. Williams, A.W. Thomas, Cheon, D.H. Lu, K. Saito, K. Tsushima, Lu, Lu, Meissner, Peierls   +9 more
core   +2 more sources

GNE-related thrombocytopenia: evidence for a mutational hotspot in the ADP/substrate domain of the GNE bifunctional enzyme

Haematologica, 2021
Not abstract ...
Bottega R., Marzollo A., Marinoni M., Athanasakis E., Persico I., Bianco A. M., Faleschini M., Valencic E., Simoncini D., Rossini L., Corsolini F., La Bianca M., Robustelli G., Gabelli M., Agosti M., Biffi A., Grotto P., Bozzi V., Noris P., Burlina A. B., d'Adamo A. P., Tommasini A., Faletra F., Pastore A., Savoia A.   +24 more
openaire   +6 more sources

CRISPR‐Based Gene Dependency Screens Reveal Mechanism of BRAF Inhibitor Resistance in Anaplastic Thyroid Cancer

Molecular Carcinogenesis, EarlyView.
ABSTRACT Anaplastic thyroid cancer (ATC) is the most aggressive form of thyroid cancer. Despite recent advances in treating BRAFV600E‐driven ATC, therapy resistance remains a significant challenge, often resulting in disease progression and death.
Shawn Noronha, Yue Liu, Gaga Geneti, Haojian Li, Xiaolin Wu, David Sun, Vaibhavi Gujar, Takashi Furusawa, Alexei Lobanov, Maggie Cam, Lipika R. Pal, Nishanth U. Nair, Chi‐Ping Day, Eytan Ruppin, Chandrayee Ghosh, Jiangnan Hu, Bhavishya Ramamoorthy, Suresh Kumar, Thorkell Andresson, King Chan, Maura O'Neill, Raj Chari, Yves Pommier, Jaydira Del Rivero, Urbain Weyemi, Electron Kebebew, Myriem Boufraqech   +26 more
wiley   +1 more source

Double polarization experiments at intermediate energy

, 1999
At modern electron accelerators with highly polarized, intense, high duty factor beams double polarization coincidence experiments became feasible with good statistical accuracy.
Alder, Arenhövel, Arenhövel, Arnold, Becchi, Beck, Blanpied, Blomqvist, Bätzner, Drechsel, Drechsel, Eden, Gothe, H. Schmieden, Herberg, Kalleicher, McNaughton, Ostrick, Passchier, Platchkov, Raskin, Schmieden, Siddle, Taddeucci   +23 more
core   +2 more sources

Hadron Polarizabilities and Form Factors [PDF]

, 1997
This is the summary of the working group on Hadron Polarizabilities and Form Factors of the Chiral Dynamics Workshop in Mainz, September 1-5, 1997.Comment: 21 pages LaTeX2e, uses epsf, 9 ...
A. Antonelli, A. F. Sill, A. I. L'vov, A. Lung, A. M. Baldin, A. Metz, A. Zichichi, B. E. MacGibbon, B. Mueller, D. Drechsel, D. Drechsel, D. J. Berkeland, E. Bruins, E. L. Hallin, F. E. Low, G. Bardin, G. Ecker, G. G. Simon, G. Höhler, G. Höhler, G. Höhler, H. Anklin, H. Arenhövel, H.-W. Hammer, I. Anthony, I. S. Stefanescu, J. Ahrens, J. Gasser, J. Gasser, J. L. Powell, J. Schmiedmayer, K. W. Rose, L. Koester, M. Gell-Mann, M. I. Levchuk, M. J. Musolf, M. Meyerhoff, M. Vanderhaeghen, M. Vanderhaeghen, M. Weitz, M.E. Biagini, P. Bosted, P. Mergell, P.A.M. Guichon, R. G. Arnold, R. Machleidt, R. Novotny, S. B. Gerasimov, S. D. Drell, S. Dubnička, S. J. Hall, S. Kopecki, S. Platchkov, S. Scherer, T. A. Aibergenov, T. A. Armstrong, T. Hannah, T. Hannah, T. Hemmert, T. N. Truong, T. Wilbois, T.R. Hemmert, V. A. Petrun'kin, V. Bernard, V. Bernard, V. Bernard, W. Grein   +66 more
core   +2 more sources