نتایج جستجو برای: hexosaminidase

تعداد نتایج: 835  

Journal: :Arquivos De Neuro-psiquiatria 2023

Case presentation: Patient R.P.C., birth 06/10/2019, female, referred from pediatric clinic at two years old due to speech regression. In August 2021, she underwent routine funduscopy, prematurity, showing a red cherry spot. her neuropsychomotor development, presented cephalic support three months of age, sat up eight months, walked 11 started two-syllables nine but regressed, and currently onl...

Journal: :The Journal of biological chemistry 1994
H F Chou M Passage A J Jonas

Sulfate transport was examined in rat liver lysosomes that were isolated from thyroid hormone-treated, thyroidectomized, and control animals. Sulfate uptake was significantly decreased in lysosomes from animals that had received intraperitoneal T3 (3,5,3'-triiodothyronine) at a dose of 20 micrograms/100 g body weight. The effect of T3 was maximal by 24 h post-injection and resulted in marked de...

Journal: :Cukurova Medical Journal 2021

Purpose: The aim of this study is to evaluate the diagnosis characteristics, clinic findings, phenotypical and genotypical features children with GM2 gangliosidoses.
 Materials Methods: file records 14 patients diagnosed gangliosidoses in our were retrospectively reviewed. was confirmed by determining levels serum total hexosaminidase β-hexosaminidase activity genetic analysis. 
 Resu...

Journal: :The Journal of biological chemistry 1989
S Sonderfeld-Fresko R L Proia

Lysosomal enzymes require a mannose 6-phosphate recognition marker, constructed on asparagine-linked oligosaccharide chains, for targeting to lysosomes. We have identified the glycosylation sites of human beta-hexosaminidase B and have determined the influence of individual oligosaccharides on the phosphorylation, lysosomal targeting, and catalytic activity of the enzyme. The five potential gly...

Sandhoff is a rare genetic disease with autosomal recessive inheritance, caused by deficiency in hexosaminidase B enzyme. Symptoms usually begin 6 months after birthday and include developmental delay, visual impairment, seizures, and cherry red spots in the eyes. In this report we present a patient with Sandhoff disease which is confirmed by enzyme assay and molecular methods.

Journal: :The Journal of biological chemistry 1980
H D Fischer A Gonzalez-Noriega W S Sly D J Morré

beta-Hexosaminidase B purified from human fibroblast secretions was used as a ligand to study phosphomannosyl-enzyme receptors in membranes from rat tissues. Enzyme binding to rat liver membranes was saturable, competitively inhibited by mannose 6-phosphate, not dependent on calcium, and destroyed by prior treatment of the hexosaminidase with either alkaline phosphatase or endoglycosidase H. Mo...

Journal: :Proceedings of the National Academy of Sciences of the United States of America 2008
Ingrid Chou Koo Yamini M Ohol Ping Wu J Hiroshi Morisaki Jeffery S Cox Eric J Brown

The pathogenic mycobacteria that cause tuberculosis (TB) and TB-like diseases in humans and animals elude sterilizing immunity by residing within an intracellular niche in host macrophages, where they are protected from microbicidal attack. Recent studies have emphasized microbial mechanisms for evasion of host defense; less is known about mycobactericidal mechanisms that remain intact during i...

2013
Incilay Sinici Sayuri Yonekawa Ilona Tkachyova Steven J. Gray R. Jude Samulski Warren Wakarchuk Brian L. Mark Don J. Mahuran

The hydrolysis in lysosomes of GM2 ganglioside to GM3 ganglioside requires the correct synthesis, intracellular assembly and transport of three separate gene products; i.e., the alpha and beta subunits of heterodimeric beta-hexosaminidase A, E.C. # 3.2.1.52 (encoded by the HEXA and HEXB genes, respectively), and the GM2-activator protein (GM2AP, encoded by the GM2A gene). Mutations in any one o...

Journal: :Journal of clinical pathology 1983
G T Besley S E Moss A D Bain A E Dewar

Lysosomal enzyme activities were studied in cells derived from the following types of leukaemia: chronic myeloid, acute myeloid, acute myelomonocytic, acute monocytic, non-T, non-B cell acute lymphoblastic, T-cell acute lymphoblastic, B-cell chronic lymphocytic and T-cell chronic lymphocytic. Activities of beta-hexosaminidase and alpha-mannosidase were significantly higher in cells from acute m...

2010
Volkan Seyrantepe Pablo Lema Aurore Caqueret Larbi Dridi Samar Bel Hadj Stephane Carpentier Francine Boucher Thierry Levade Lionel Carmant Roy A. Gravel Edith Hamel Pascal Vachon Graziella Di Cristo Jacques L. Michaud Carlos R. Morales Alexey V. Pshezhetsky

Tay-Sachs disease is a severe lysosomal disorder caused by mutations in the HexA gene coding for the α-subunit of lysosomal β-hexosaminidase A, which converts G(M2) to G(M3) ganglioside. Hexa(-/-) mice, depleted of β-hexosaminidase A, remain asymptomatic to 1 year of age, because they catabolise G(M2) ganglioside via a lysosomal sialidase into glycolipid G(A2), which is further processed by β-h...

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