scholarly journals GM2 Activator Protein.

1997 ◽  
Vol 9 (50) ◽  
pp. 421-432 ◽  
Author(s):  
Yu-Teh Li ◽  
Su-Chen Li
Keyword(s):  
Activator Protein ◽  
Gm2 Activator ◽  
Gm2 Activator Protein

Two patients from Turkey with a novel variant in the GM2A gene and review of the literature

2021 ◽  
Vol 0 (0) ◽  
Author(s):  
Aslı İnci ◽  
Filiz Başak Cengiz Ergin ◽  
Gürsel Biberoğlu ◽  
İlyas Okur ◽  
Fatih Süheyl Ezgü ◽  
...  
Keyword(s):  
Sandhoff Disease ◽  
Pathogenic Variant ◽  
Protein Deficiency ◽  
Gm2 Gangliosidosis ◽  
Infantile Form ◽  
Rare Form ◽  
Inborn Errors ◽  
Activator Protein ◽  
Gm2 Activator ◽  
Gm2 Activator Protein

Abstract Objectives GM2 gangliosidosis is a rare form of inborn errors of metabolism including Tay-Sachs disease, Sandhoff disease, and GM2 activator deficiency. GM2 activator protein deficiency is an ultra-rare form of GM2 gangliosidosis. To date, 16 cases of GM2 activator protein deficiency have been reported in the literature, and among them, 11 cases were the infantile form of the disease. Here we report the first two patients from Turkey with the infantile form of the disease with a novel likely pathogenic variant. Case presentation A boy of eight months old presented to the metabolic department with very mild neurological deterioration, although he had achieved early developmental milestones at the appropriate time. The parents also had a daughter who had lost skills progressively before one year of age. The boy was evaluated and bilateral cherry-red spots were found with no abnormality in either metabolic screening including β-hexosaminidase or cranial magnetic resonance imaging. A novel homozygous likely pathogenic variant in GM2A was detected in a next-generation sequence panel revealing GM2 activator protein deficiency. His sister was investigated after he was diagnosed with GM2 activator deficiency and it was found that she had the same variant as her brother. Conclusions This case report emphasizes that in the event of normal β-hexosaminidase activity, GM2 activator protein deficiency could be underdiagnosed, and further molecular analysis should be performed. To the best of our knowledge, this boy is one of the youngest patient diagnosed with very mild symptoms. With this novel pathogenic variant, these patients have expanded the mutation spectrum of GM2 activator protein deficiency.

scholarly journals Complete localization of disulfide bonds in GM2 activator protein

1998 ◽  
Vol 7 (4) ◽  
pp. 1039-1045 ◽  
Author(s):  
Christina G. Schütte ◽  
Thorsten Lemm ◽  
Konrad Sandhoff ◽  
Gereon J. Glombitza
Keyword(s):  
Disulfide Bonds ◽  
Activator Protein ◽  
Gm2 Activator ◽  
Gm2 Activator Protein

Identification and tissue-specific expression of amphioxus GM2 activator protein gene from amphioxusBranchiostoma belcheri

DNA Sequence ◽  
2006 ◽  
Vol 17 (2) ◽  
pp. 122-128
Author(s):  
Nai-Guo Liu ◽  
Nai-Guo Liu ◽  
Shi-Cui Zhang ◽  
Zhen-Hui Liu ◽  
Nai-Guo Liu ◽  
...  
Keyword(s):  
Protein Gene ◽  
Specific Expression ◽  
Tissue Specific ◽  
Tissue Specific Expression ◽  
Activator Protein ◽  
Gm2 Activator ◽  
Gm2 Activator Protein

GM2 Activator Protein Deficiency

2009 ◽  
pp. 737-738
Author(s):  
David J. Timson ◽  
Richard J. Reece ◽  
James B. Thoden ◽  
Hazel M. Holden ◽  
Andrea L. Utz ◽  
...  
Keyword(s):  
Protein Deficiency ◽  
Activator Protein ◽  
Gm2 Activator ◽  
Gm2 Activator Protein

scholarly journals Identification of a lysosomal protein causing lipid transfer, using a fluorescence assay designed to monitor membrane fusion between rat liver endosomes and lysosomes

1995 ◽  
Vol 308 (3) ◽  
pp. 937-946 ◽  
Author(s):  
T Kuwana ◽  
B M Mullock ◽  
J P Luzio
Keyword(s):  
Lipid Transfer Protein ◽  
Lipid Transfer ◽  
Fusion Event ◽  
Transfer Protein ◽  
Activator Protein ◽  
Gm2 Activator ◽  
Gm2 Activator Protein ◽  
Lipid Probe ◽  
Lysosomal Protein ◽  
Fluorescence Dequenching

In the present and previous studies [Mullock, Perez, Kuwana, Gray and Luzio (1994) J. Cell Biol. 126, 1173-1182], we have attempted to investigate endosome-lysosome fusion using an assay based on the dilution of the self-quenching fluorescent lipid probe octadecylrhodamine. Although some characteristics of fluorescence dequenching were consistent with those observed in other cell-free assays, we have now demonstrated that increased fluorescence was due to leakage of an intralysosomal lipid-transfer protein. This protein was purified and found to be a 22 kDa molecule with sequence, immunological and functional characteristics strongly suggesting that it is the rat homologue of human GM2-activator protein. Both the 22 kDa protein and recombinant human GM2-activator protein caused fluorescence dequenching either when mixed with octadecylrhodamine-loaded endosomes and lysosomal membranes or in a liposome system. The data were consistent with GM2-activator protein acting as an octadecylrhodamine-transfer protein. Antibodies to the 22 kDa protein added to cell-free endosome-lysosome content-mixing assays had no effect, although they could inhibit fluorescence dequenching caused by the protein. Thus this protein is not required in any fusion event involved in delivery of ligands from endosomes to lysosomes. The existence within an intracellular organelle of a protein capable of acting as an octadecylrhodamine-transfer protein suggests the need for caution in the interpretation of fluorescence-dequenching assays using mammalian subcellular fractions.

scholarly journals The enzyme-binding region of human GM2-activator protein

FEBS Journal ◽  
2006 ◽  
Vol 273 (5) ◽  
pp. 982-991 ◽  
Author(s):  
Michaela Wendeler ◽  
Norbert Werth ◽  
Timm Maier ◽  
Guenter Schwarzmann ◽  
Thomas Kolter ◽  
...  
Keyword(s):  
Binding Region ◽  
Enzyme Binding ◽  
Activator Protein ◽  
Gm2 Activator ◽  
Gm2 Activator Protein

scholarly journals GM2 activator protein inhibits platelet activating factor signaling in rats

2009 ◽  
Vol 385 (4) ◽  
pp. 576-580 ◽  
Author(s):  
Brigitte Rigat ◽  
Herman Yeger ◽  
Darakhshanda Shehnaz ◽  
Don Mahuran
Keyword(s):  
Platelet Activating Factor ◽  
Activator Protein ◽  
Gm2 Activator ◽  
Gm2 Activator Protein
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