scholarly journals Inefficiency in GM2 Ganglioside Elimination by Human Lysosomal β-Hexosaminidase β-Subunit Gene Transfer to Fibroblastic Cell Line Derived from Sandhoff Disease Model Mice

2006 ◽  
Vol 29 (8) ◽  
pp. 1564-1569 ◽  
Author(s):  
Tomohiro Itakura ◽  
Aya Kuroki ◽  
Yasuhiro Ishibashi ◽  
Daisuke Tsuji ◽  
Eri Kawashita ◽  
...  
Keyword(s):  
Gene Transfer ◽  
Cell Line ◽  
Disease Model ◽  
Sandhoff Disease ◽  
Β Subunit ◽  
Subunit Gene ◽  
Fibroblastic Cell ◽  
Gm2 Ganglioside

scholarly journals Activin and Glucocorticoids Synergistically Activate Follicle-Stimulating Hormone β-Subunit Gene Expression in the Immortalized LβT2 Gonadotrope Cell Line

Endocrinology ◽  
2007 ◽  
Vol 148 (2) ◽  
pp. 762-773 ◽  
Author(s):  
Shauna M. McGillivray ◽  
Varykina G. Thackray ◽  
Djurdjica Coss ◽  
Pamela L. Mellon
Keyword(s):  
Gene Expression ◽  
Cell Line ◽  
Synergistic Interaction ◽  
Β Subunit ◽  
Subunit Gene ◽  
Rate Limiting Step ◽  
Reproductive Axis ◽  
Glucocorticoid Signaling ◽  
Tumor Virus

FSH is produced by the pituitary gonadotrope to regulate gametogenesis. Production of the β-subunit of FSH is the rate-limiting step in FSH synthesis, and a number of peptide and steroid hormones within the reproductive axis have been found to regulate transcription of the FSH β-subunit gene. Although both activin and glucocorticoids are notable regulators of FSHβ by themselves, we find that cotreatment results in a synergistic interaction on the mouse FSHβ promoter at the level of the gonadotrope using transient transfection of a reporter gene into the LβT2 immortalized gonadotrope-derived cell line. This synergistic interaction is specific to FSHβ, because only additive effects of these two hormones are observed on LH β-subunit, GnRH receptor, and mouse mammary tumor virus gene expression. Components of both activin and glucocorticoid signaling are found to be necessary for synergy, and there are specific cis elements on the mouse FSHβ promoter that contribute to the synergistic response as well. We also identify novel activin-responsive regions in the mouse FSHβ promoter and find that the −120 site can bind Smad2/3 in vitro. In addition, the glucocorticoid receptor and Smad3 are sufficient to confer a striking synergy with glucocorticoids on the mouse FSHβ promoter. Our studies provide the first evidence of a synergistic interaction between activin and glucocorticoids within the gonadotrope cell and demonstrate that this synergy can occur directly at the level of the mouse FSHβ promoter.

Two mutations remote from an exon/intron junction in the β-hexosaminidase β-subunit gene affect 3'-splice site selection and cause Sandhoff disease

1998 ◽  
Vol 103 (4) ◽  
pp. 462-469 ◽  
Author(s):  
Mutsuko Fujimaru ◽  
A. Tanaka ◽  
Kyuchul Choeh ◽  
Nobuaki Wakamatsu ◽  
Hitoshi Sakuraba ◽  
...  
Keyword(s):  
Splice Site ◽  
Site Selection ◽  
Sandhoff Disease ◽  
Β Subunit ◽  
Subunit Gene ◽  
Splice Site Selection

The chorionic gonadotropin β-subunit gene is controlled by Pitx1 and Egr1

2007 ◽  
Vol 115 (S 1) ◽  
Author(s):  
A Henke ◽  
M Simoni ◽  
E Nieschlag ◽  
J Gromoll
Keyword(s):  
Chorionic Gonadotropin ◽  
Β Subunit ◽  
Subunit Gene

Cloning and Analyzing of G-protein β-Subunit Gene in Rhizoctonia solani Causing Soybean Sharp Eyespot

2009 ◽  
Vol 35 (2) ◽  
pp. 370-374
Author(s):  
Bing-Tian MA ◽  
Guang-Lin QU ◽  
Wen-Juan HUANG ◽  
Yu-Fan LIN ◽  
Shi-Gui LI
Keyword(s):  
Rhizoctonia Solani ◽  
G Protein ◽  
Β Subunit ◽  
Subunit Gene ◽  
Sharp Eyespot

scholarly journals Beneficial Effects of Acetyl-DL-Leucine (ADLL) in a Mouse Model of Sandhoff Disease

2020 ◽  
Vol 9 (4) ◽  
pp. 1050 ◽  
Author(s):  
Ecem Kaya ◽  
David A. Smith ◽  
Claire Smith ◽  
Barry Boland ◽  
Michael Strupp ◽  
...  
Keyword(s):  
Mouse Model ◽  
Sandhoff Disease ◽  
Lysosomal Storage ◽  
Gm2 Ganglioside ◽  
Beneficial Effects ◽  
New Therapeutic Approaches ◽  
Late Endosomes ◽  
Altered Glucose ◽  
Cerebellar Ataxias ◽  
Niemann Pick

Sandhoff disease is a rare neurodegenerative lysosomal storage disease associated with the storage of GM2 ganglioside in late endosomes/lysosomes. Here, we explored the efficacy of acetyl-DL-leucine (ADLL), which has been shown to improve ataxia in observational studies in patients with Niemann–Pick Type C1 and other cerebellar ataxias. We treated a mouse model of Sandhoff disease (Hexb-/-) (0.1 g/kg/day) from 3 weeks of age with this orally available drug. ADLL produced a modest but significant increase in life span, accompanied by improved motor function and reduced glycosphingolipid (GSL) storage in the forebrain and cerebellum, in particular GA2. ADLL was also found to normalize altered glucose and glutamate metabolism, as well as increasing autophagy and the reactive oxygen species (ROS) scavenger, superoxide dismutase (SOD1). Our findings provide new insights into metabolic abnormalities in Sandhoff disease, which could be targeted with new therapeutic approaches, including ADLL.

scholarly journals Combined p14ARF and Interferon-β Gene Transfer to the Human Melanoma Cell Line SK-MEL-147 Promotes Oncolysis and Immune Activation

2020 ◽  
Vol 11 ◽  
Author(s):  
Otto Luiz Dutra Cerqueira ◽  
Maria Alejandra Clavijo-Salomon ◽  
Elaine Cristina Cardoso ◽  
Tharcisio Citrangulo Tortelli Junior ◽  
Samir Andrade Mendonça ◽  
...  
Keyword(s):  
Gene Transfer ◽  
Cell Line ◽  
Melanoma Cell ◽  
Immune Activation ◽  
Melanoma Cell Line ◽  
Human Melanoma ◽  
Human Melanoma Cell Line ◽  
Human Melanoma Cell ◽  
Interferon Β
Sign in / Sign up

Export Citation Format

Share Document