Results 101 to 110 of about 18,060 (230)

Genetic and Clinical Characteristics of Chinese Adult Patients With Krabbe Disease

CNS Neuroscience &Therapeutics, Volume 31, Issue 12, December 2025.
This study presents a comprehensive analysis of the genetic and clinical spectrum of Krabbe disease in a Chinese cohort, with a particular focus on adult‐onset cases. We identified 11 GALC variants, including the novel mutation p.P340L, and provided functional evidence supporting its pathogenicity through impaired protein processing, mislocalization ...
Yi Zhang, Hui‐Fen Huang, Juan‐Juan Xie, Wang Ni, Hao Yu, Zhi‐Ying Wu   +5 more
wiley   +1 more source

Identification of Stage-Specific Breast Markers using Quantitative Proteomics [PDF]

, 2013
YesMatched healthy and diseased tissues from breast cancer patients were analyzed by quantitative proteomics. By comparing proteomic profiles of fibroadenoma (benign tumors, three patients), DCIS (noninvasive cancer, three patients), and invasive ductal ...
Alexander H., Alix-Panabieres C., Andreas Hadjisavvas, Andrew Hanby, Andrew Scally, Ayerbes M. V., Benson J. R., Bradford M. M., Caruso J. A., Castro M. A., Celis J. E., Chris W. Sutton, Cimpean A. M., Collins L. C., Curtis C., Davalos A., Debily M. A., Frasor J., Goldblatt E. M., Gromov P., Guerin M., Hanby A. M., Hancke K., Harvell D. M., Helene Thygesen, Herschkowitz J. I., Hery C., Ho J., Julie Wilson, Kabbage M., Kongara S., Kyriacos Kyriacou, Lee H. H., Lwin Z. M., Maria A. Loizidou, Miksicek R. J., Mokbel K., Muller C. B., Nishimura S., Nitin Rustogi, Oxelmark E., Paul Loadman, Perkins D. N., Reebye V., Richard Linforth, Rower C., Sadr-ul Shaheed, Shatz M., Simpkins S. A., Simpson N. E., Simpson N. E., Song X., Sullivan W., Sutton C. W., Tamesa M. S., Tang X. Y., Tanioka T., Toninello A., Toogun O. A., Turhani D., Unwin R. D., Valerie Speirs, Wang G., Wang W., Wang W. S., Wang Y., Wulfkuhle J. D., Yang Z. L., Yuan Y., Zhou J.   +69 more
core   +1 more source

A Taxonomy of Causality-Based Biological Properties [PDF]

, 2010
We formally characterize a set of causality-based properties of metabolic networks. This set of properties aims at making precise several notions on the production of metabolites, which are familiar in the biologists' terminology.
A. Coletta, A. Phillips, A. Regev, A. Regev, Andrea Bracciali, B. Shargel, B.J. Yu, C. Baral, C. Bodei, C. Bodei, C. Priami, C. Priami, C. Priami, C.H. Schilling, Chiara Bodei, D.A. Fell, Davide Chiarugi, Emanuela Merelli, F. Nielson, F. Nielson, F. Orosz, G.T. Gillespie, H Kitano, H. Kitano, H. Kitano, H. Pilegaard, H. Pilegaard, H. Yu, J. Stelling, J. Thykaer, L. Cardelli, L. Cardelli, M. Curti, N. Chabrier, Paola Quaglia, R. Albert, R. Gori, R. Gori, R. Milner, R.A. Gatenby, R.G. Clyde, Roberta Gori, S. Eker, S. Fatumo, S. Gerdes, S. Klamt, S. Schuster, S. Schuster, S.S Gambhir, U. Alon, V. Danos, V. Danos, Y-K. Oh   +52 more
core   +3 more sources

Exact solution of Smoluchowski's equation for reorientational motion in Maier-Saupe potential

, 2014
The analytic treatment of the non-inertial rotational diffusion equation, i.e., of the Smoluchowski's one (SE), in a symmetric genuinely double-well Maier-Saupe uniaxial potential of mean torque is considered.
Sitnitsky, A. E.
core   +1 more source

Characterization of human triosephosphate isomerase S-nitrosylation

Nitric Oxide, 2018
Triosephosphate isomerase (TPI), the glycolytic enzyme that catalyzes the isomerization of dihydroxyacetone phosphate (DHAP) to glyceraldehyde-3-phosphate (G3P), has been frequently identified as a target of S-nitrosylation by proteomic studies. However, the effect of S-nitrosylation on its activity has only been explored in plants and algae.
Romero, Jorge Miguel, Carrizo Garcia, Maria Elena, Curtino, Juan Agustin   +2 more
openaire   +3 more sources

Hsp70- and Hsp90-mediated proteasomal degradation underlies TPIsugarkill pathogenesis in Drosophila

Neurobiology of Disease, 2010
Triosephosphate isomerase (TPI) deficiency is a severe glycolytic enzymopathy that causes progressive locomotor impairment and neurodegeneration, susceptibility to infection, and premature death. The recessive missense TPIsugarkill mutation in Drosophila
Stacy L. Hrizo, Michael J. Palladino
doaj   +1 more source

Differential remodelling of peroxisome function underpins the environmental and metabolic adaptability of diplonemids and kinetoplastids [PDF]

, 2016
The remodelling of organelle function is increasingly appreciated as a central driver of eukaryotic biodiversity and evolution. Kinetoplastids including Trypanosoma and Leishmania have evolved specialized peroxisomes, called glycosomes.
Bringaud, Frédéric, Concepción, Juan L., Embley, T. Martin, Fujimura, Tsutomu, Hashimoto, Muneaki, Hashimoto, Tetsuo, Hirawake-Mogi, Hiroko, Kaga, Naoko, Koike, Masato, Makiuchi, Takashi, Mita, Toshihiro, Morales, Jorge, Nara, Takeshi, Taka, Hikari, Tsubouchi, Akiko, Williams, Tom   +15 more
core   +4 more sources

Label-free shotgun proteomics and metabolite analysis reveal a significant metabolic shift during citrus fruit development. [PDF]

, 2011
Label-free LC-MS/MS-based shot-gun proteomics was used to quantify the differential protein synthesis and metabolite profiling in order to assess metabolic changes during the development of citrus fruits.
Blumwald, Eduardo, Boo, Kyung Hwan, Eigenheer, Richard A, Katz, Ehud, Kim, Ho Youn, Negre-Zakharov, Florence, Phinney, Brett S, Sadka, Avi, Shulaev, Vladimir   +8 more
core   +3 more sources

TPI1 promotes p53 ubiquitination in bladder cancer by recruiting AKT to enhance MDM2 phosphorylation

Pharmacological Research
Bladder cancer (BCa) is an aggressive malignancy with limited effective treatment options, and its poor outcomes largely result from delayed detection and therapeutic resistance.
Chenyang Wang, Shun Wan, Kunpeng Li, Siyu Chen, Yuncong Shu, Shanhui Liu, Li Yang   +6 more
doaj   +1 more source

Maximum Entropy Production Theorem for Transitions between Enzyme Functional States and Its Applications

Entropy, 2019
Transitions between enzyme functional states are often connected to conformational changes involving electron or proton transport and directional movements of a group of atoms.
Davor Juretić, Juraj Simunić, Željana Bonačić Lošić   +2 more
doaj   +1 more source