Results 251 to 260 of about 677,727 (291)

[alpha-Galactosidase gene mutation and its expression product in Fabry disease (alpha-galactosidase deficiency)].

Rinsho byori. The Japanese journal of clinical pathology, 1997
Fabry disease is characterized by a deficiency of lysosomal alpha-galactosidase (alpha-Gal) and the accumulation of glycosphingolipid (e.g. predominantly globotriaosylceramide) in various tissues, mainly in lysosomes of the vascular endothelium. This disorder is currently classified into two clinical phenotypes; classical severe type and atypical ...
T, Okumiya, T, Takata, M, Sasaki, H, Sakuraba   +3 more
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Multidimensional computational strategies enhance the thermostability of alpha-galactosidase

International Journal of Biological Macromolecules
Alpha-Galactosidase has significant industrial application value in food processing, animal nutrition and medical applications. Microbial-derived α-galactosidases predominate industrial implementation due to high productivity, yet their inherent thermal instability necessitates systematic protein engineering.
Youfeng Zou, Pu Zheng, Pengcheng Chen, Xiaowei Yu, Dan Wu   +4 more
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[Fabry disease (alpha-galactosidase deficiency)].

Nihon rinsho. Japanese journal of clinical medicine, 1996
Fabry disease is an X-linked glycosphingolipid storage disorder resulting from a deficiency of lysosomal alpha-galactosidase (alpha-Gal; EC 3.2.1.22). Classical form patients, with clinical manifestations of generalized angiopathy of early onset, usually show no detectable alpha-Gal activity.
T, Okumiya, H, Sakuraba
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Studies with plant alpha-galactosidases

1976
The two molecular forms, I and II, of [alpha]-galactosidase from immature, mature (resting) and germinated vicia faba seeds have been studied. The enzymes have been purified by a multistage procedure and, in particular, the effect these stages have upon the relative isoenzyme levels has been investigated.
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Alpha-galactosidase

1991
Dietmar Schomburg, Margit Salzmann
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Structure-function relationships in alpha-galactosidase A.

Acta paediatrica (Oslo, Norway : 1992), 2007
With recent interest in the molecular mechanisms responsible for Fabry disease, the number of known mutations in the GLA gene which encodes alpha-galactosidase A has expanded considerably. Combining a large database of Fabry disease-causing mutations with the recently determined crystal structure of human alpha-galactosidase A allows for a new ...
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A case of Fabry disease (alpha-galactosidase A deficiency).

The Journal of the Kentucky Medical Association, 1994
Fabry disease is a rare lipid storage disorder, often silent until adulthood. We report the case of a rural, primary care patient whose initial presentation was that of progressive weakness from anemia. The anemia was determined to be of renal origin, and led to a diagnosis of Fabry disease.
W C, Thornbury, P, Aaron
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Affinity purification of human alpha galactosidase utilizing a novel small molecule biomimetic of alpha-D-galactose

Protein Expression and Purification, 2021
Brian Dwyer, Muthuraman Meiyappan
exaly  

Spatial regulation of alpha-galactosidase activity and its influence on raffinose family oligosaccharides during seed maturation and germination in Cicer arietinum

Plant Signaling and Behavior, 2020
Rex Arunraj, Logan Skori, Kumar Abhinandan   +2 more
exaly  

The nature of Vicia faba alpha-galactosidases

1983
Two molecular forms I and II (separable by gel filtration) from mature Vicia faba seeds have been studied. The extractability of the enzymes and the in vitro conversion of the low MW form, II, to the larger oligomer, I has been examined over a range of salt concentrations.
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