نتایج جستجو برای: گانگلیوزیدوز gm2

تعداد نتایج: 703  

2014
Ilinca Nicolae Corina Daniela Ene Nicolae Emanoil Ceauşu

Antigangliosides antibodies were observed in neoplastic diseases, bacterial and viral infections, autoimmune diseases and neurological disorders. Objective: assessment of antigangliosides antibodies anti -GM1, -GM2, -GM3, -GD1a, -GD1b, -GT1b, -GQ1b of IgG type in asymptomatic HIV patients. The study was based on the prospective analysis of 32 patients with asymptomatic HIV infection, with no re...

Journal: :Current Biology 2003
Marjorie C. Gondré-Lewis Robert McGlynn Steven U. Walkley

Niemann-Pick type C (NPC) disease is a lysosomal disorder commonly caused by a recessive mutation in NPC1, which encodes an integral membrane protein with regions of homology to the morphogen receptor, Patched, and to 3-hydroxy-3-methylglutaryl coenzyme A reductase. Neurons in NPC disease exhibit extensive storage of free cholesterol and glycosphingolipids (GSLs), including GM2 and GM3 ganglios...

Journal: :Archives of Disease in Childhood 1973

2011
Kazuhiko Matsuoka Tomomi Tamura Daisuke Tsuji Yukie Dohzono Keisuke Kitakaze Kazuki Ohno Seiji Saito Hitoshi Sakuraba Kohji Itoh

To develop a novel enzyme replacement therapy for neurodegenerative Tay-Sachs disease (TSD) and Sandhoff disease (SD), which are caused by deficiency of β-hexosaminidase (Hex) A, we designed a genetically engineered HEXB encoding the chimeric human β-subunit containing partial amino acid sequence of the α-subunit by structure-based homology modeling. We succeeded in producing the modified HexB ...

2014
Hannah Rockwell E. ROCKWELL Hannah E. Rockwell Thomas N. Seyfried

Sandhoff Disease (SD) is an autosomal recessive neurodegenerative disease caused by a mutation in the Hexb gene for the β-subunit of β-hexosaminidase A, resulting in the inability to catabolize ganglioside GM2 within the lysosomes. SD presents with an accumulation of GM2 and its asialo derivative GA2 primarily in the CNS. Myelin-enriched glycolipids, cerebrosides and sulfatides, are also decrea...

Journal: :Proceedings of the National Academy of Sciences of the United States of America 2006
M Begoña Cachón-González Susan Z Wang Andrew Lynch Robin Ziegler Seng H Cheng Timothy M Cox

Tay-Sachs disease is a prototypic neurodegenerative disease. Lysosomal storage of GM2 ganglioside in Tay-Sachs and the related disorder, Sandhoff disease, is caused by deficiency of beta-hexosaminidase A, a heterodimeric protein. Tay-Sachs-related diseases (GM2 gangliosidoses) are incurable, but gene therapy has the potential for widespread correction of the underlying lysosomal defect by means...

Journal: :Zeitschrift fur Naturforschung. C, Journal of biosciences 2011
Monika Wujec Tomasz Plech Agata Siwek Barbara Rajtar Małgorzata Polz-Dacewiczb

2-[(4-Methyl-4H-1,2,4-triazol-3-yl)sulfanyl]acetamide derivatives were synthesized and their structures were confirmed by 1H NMR, IR, and elemental analysis. Cytotoxicity of the compounds towards HEK-293 and GMK cells was evaluated. Moreover, the antiviral and virucidal activities of these compounds against human adenovirus type 5 and ECHO-9 virus were assessed. Some of the newly synthesized de...

Journal: :Journal of sports science & medicine 2007
Camila C Greco Jailton G Pelarigo Tiago R Figueira Benedito S Denadai

Our objective was to analyze the effect of gender on the relationship between stroke rates corresponding to critical speed (SRCS) and maximal speed of 30 min (SRS30) in young swimmers. Twenty two males (GM1) (Age = 15.4 ± 2.1 yr., Body mass = 63.7 ± 12.9 kg, Stature = 1.73 ± 0.09 m) and fourteen female (GF) swimmers (Age = 15.1 ± 1.6 yr., Body mass = 58.3 ± 8.8 kg, Stature = 1.65 ± 0.06 m) were...

Journal: :Journal of Case Reports 2017

نمودار تعداد نتایج جستجو در هر سال

با کلیک روی نمودار نتایج را به سال انتشار فیلتر کنید