Page last updated: 2024-11-08

serine and Fabry Disease

serine has been researched along with Fabry Disease in 2 studies

Serine: A non-essential amino acid occurring in natural form as the L-isomer. It is synthesized from GLYCINE or THREONINE. It is involved in the biosynthesis of PURINES; PYRIMIDINES; and other amino acids.
serine : An alpha-amino acid that is alanine substituted at position 3 by a hydroxy group.

Fabry Disease: An X-linked inherited metabolic disease caused by a deficiency of lysosomal ALPHA-GALACTOSIDASE A. It is characterized by intralysosomal accumulation of globotriaosylceramide and other GLYCOSPHINGOLIPIDS in blood vessels throughout the body leading to multi-system complications including renal, cardiac, cerebrovascular, and skin disorders.

Research

Studies (2)

TimeframeStudies, this research(%)All Research%
pre-19900 (0.00)18.7374
1990's1 (50.00)18.2507
2000's1 (50.00)29.6817
2010's0 (0.00)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
Ishii, S1
Suzuki, Y1
Fan, JQ1
Koide, T1
Ishiura, M1
Iwai, K1
Inoue, M1
Kaneda, Y1
Okada, Y1
Uchida, T1

Other Studies

2 other studies available for serine and Fabry Disease

ArticleYear
Role of Ser-65 in the activity of alpha-galactosidase A: characterization of a point mutation (S65T) detected in a patient with Fabry disease.
    Archives of biochemistry and biophysics, 2000, May-15, Volume: 377, Issue:2

    Topics: alpha-Galactosidase; Animals; Base Sequence; Blotting, Western; COS Cells; DNA, Complementary; Elect

2000
A case of Fabry's disease in a patient with no alpha-galactosidase A activity caused by a single amino acid substitution of Pro-40 by Ser.
    FEBS letters, 1990, Jan-01, Volume: 259, Issue:2

    Topics: alpha-Galactosidase; Base Sequence; Blotting, Northern; Cells, Cultured; DNA; Fabry Disease; Galacto

1990