Results 91 to 100 of about 286,880 (314)

Impaired β-glucocerebrosidase activity and processing in frontotemporal dementia due to progranulin mutations. [PDF]

, 2019
Loss-of-function mutations in progranulin (GRN) are a major autosomal dominant cause of frontotemporal dementia. Most pathogenic GRN mutations result in progranulin haploinsufficiency, which is thought to cause frontotemporal dementia in GRN mutation ...
Arrant, Andrew E, Boyle, Nicholas R, Grinberg, Lea T, Hoffmann, Madelyn Q, Kashyap, Shreya N, Miller, Bruce L, Murchison, Charles F, Nana, Alissa L, Ramos, Eliana Marisa, Roberson, Erik D, Roth, Jonathan R, Seeley, William W, Spina, Salvatore   +12 more
core  

DLC2 modulates angiogenic responses in vascular endothelial cells by regulating cell attachment and migration. [PDF]

, 2010
Deleted in liver cancer 1 (DLC1) is a RhoGTPase activation protein-containing tumor suppressor that associates with various types of cancer. Although DLC2 shares a similar domain structure with that of DLC1, the function of DLC2 is not well characterized.
Chen, N-T, Liao, Y-C, Lin, Y, Lo, SH, Shih, Y-P, Xue, L   +5 more
core   +3 more sources

AAV2 vector harboring a liver-restricted promoter facilitates sustained expression of therapeutic levels of alpha-galactosidase A and the induction of immune tolerance in Fabry mice.

Molecular Therapy, 2004
The successful application of gene therapy for the treatment of genetic diseases such as Fabry is reliant on the development of vectors that are safe and that facilitate sustained expression of therapeutic levels of the transgene product. Here, we report
Robin J. Ziegler, S. Lonning, D. Armentano, Chester Q. Li, D. Souza, Maribeth Cherry, Christine Ford, Christine M. Barbon, R. Desnick, G. Gao, James M. Wilson, R. Peluso, S. Godwin, B. Carter, R. Gregory, S. Wadsworth, Seng H. Cheng   +16 more
semanticscholar   +1 more source

Understanding and Overcoming Antibody‐Drug Conjugate Resistance: Biological Mechanisms and Emerging Analytical Frameworks in Breast Cancer

Advanced Science, EarlyView.
Antibody–drug conjugates (ADCs) transform breast cancer therapy, yet resistance limits their durability. Emerging evidence reveals that ADC failure is not solely tumor‐intrinsic but shaped by dynamic tumor–microenvironment interactions that alter drug delivery, processing, and response.
Minji Seo, Jangsoon Lee, Naoto T. Ueno
wiley   +1 more source

Purificação e caracterização de alfa-galactosidases de sementes de Platymiscium pubescens Micheli Purification and characterization of alpha-galactosidases from Platymiscium pubescens Micheli seeds

Revista Árvore, 2005
Este trabalho objetivou foi determinar a composição bioquímica de sementes de espécies florestais e caracterizar a enzima alfa-galactosidase de sementes germinadas de Platymiscium pubescens. Os maiores teores de lipídios foram determinados em sementes de
Giordani de Oliveira, Valéria Monteze Guimarães, Eduardo Euclydes de Lima e Borges, Lilian da Silva Fialho, Maria Goreti de Almeida e Oliveira, Sebastião Tavares de Rezende   +5 more
doaj   +1 more source

Regulation of bistability in the std fimbrial operon of Salmonella enterica by DNA adenine methylation and transcription factors HdfR, StdE and StdF [PDF]

, 2019
Bistable expression of the Salmonella enterica std operon is controlled by an AND logic gate involving three transcriptional activators: the LysR-type factor HdfR and the StdE and StdF regulators encoded by the std operon itself.
Casadesús Pursals, Josep, García Pastor, Lucía, Jakomin, Marcello, Puerta Fernández, Elena, Sánchez Romero, María Antonia   +4 more
core   +1 more source

Synthesis and processing of alpha-galactosidase A in human fibroblasts. Evidence for different mutations in Fabry disease.

Journal of Biological Chemistry, 1987
The synthesis and processing of the human lysosomal enzyme alpha-galactosidase A was examined in normal and Fabry fibroblasts. In normal cells, alpha-galactosidase A was synthesized as an Mr = 50,500 precursor, which contained phosphate groups in ...
P. Lemansky, David F. Bishop, Robert J. Desnick, Andrej Hasilik, K. Figura   +4 more
semanticscholar   +1 more source

Cryo‐EM Structure Guided Engineering of Botulinum Neurotoxin A With Advanced Receptor Binding Affinity and Therapeutical Benefits

Advanced Science, EarlyView.
The butterfly unfolded wing in an open form structure of botulinum neurotoxin type A (BoNT/A) at physiological‐state was confirmed at 2.85 Å resolution by cryo‐electron microscopy (cryo‐EM). Structure‐guided protein engineering significantly enhanced the receptor‐binding affinity, therapeutic efficacy, and safety of the engineered toxin variants ...
Wenrui Wang, Zhaxi Zerang, Linjin You, Ziye Liu, Rong Nie, Fuwei Qi, Fenfen Gao, Chengmu Zhao, Wantong Ma, Jinghan He, Xiaoru Wang, Shanquan Wu, Bo Liu, Xinyao Liu, Dongsheng Lei, Dejuan Zhi, Dongsheng Wang   +16 more
wiley   +1 more source

PACAP induces FSHβ gene expression via EPAC. [PDF]

, 2019
Gonadotropins, luteinizing hormone (LH) and follicle-stimulating hormone (FSH), are heterodimers of a common α subunit and unique β subunits. Regulation of their levels, primarily by GnRH, is critical for reproductive function.
Coss, Djurdjica, Yeh, Debra M
core  

The ATF6-Met [67] Val substitution is associated with increased plasma cholesterol levels [PDF]

, 2009
Objective— Activating transcription factor 6 (ATF6) is a sensor of the endoplasmic reticulum stress response and regulates expression of several key lipogenic genes.
Ayoubi, T.A., Bruin, T.W., Feskens, E.J.M., Glembotski, C.C., Greevenbroek, M.M., Heldens, J., Hofker, M.H., Kallen, C.J., Kuusisto, J., Laakso, K., Meex, S.J., Pajukanta, P., Schalkwijk, C.G., Sinsheimer, J.S., Stehouwer, C.D., Taskinen, M.R., Thuerauf, D.J., Vlietinck, R., Weissglas-Volkov, D., Wouters, B.G.   +19 more
core   +1 more source