Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Target Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Query: EC:3.1.3.1 (
alkaline phosphatase
)
47,916
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
A clinicobiochemical analysis has revealed a relationship between the elevated peptide-bound oxyproline levels and the lower activity of
alkaline phosphatase
in women and the presence of the early symptom stratified nails. The degree of the elevated peptide-bound oxyproline levels is informative of the early manifestations of the damage, which is of diagnostic value and enables treatment to be used in proper time. In a group of young subjects with
onychodystrophy
, the significant increase of peptide-bound oxyproline with the decreased activity of
alkaline phosphatase
in the serum may reflect the activation of adaptive reactions. The older the organism is, the less intensity of an adaptive reaction to hypoxia that is a principal of
onychodystrophy
.
...
PMID:[Peptide-bound oxyproline and the activity of alkaline phosphatase in the serum of women with onychodystrophy]. 1971 88
The resistance to a dystrophic process and lysis and the degree of clinical signs in nail lesions in different stages of
onychodystrophy
were found to be associated with the activity of
alkaline phosphatase
. A relationship was established between the magnitude of the blood activity of the enzymes superoxide dismutase and catalase with a drop in the serum activity of
alkaline phosphatase
. At the same time, there was a correlation between the rate of development of
onychodystrophy
and the magnitude of a change in the activity of antioxidant defense enzymes.
...
PMID:[The activities of red blood cell superoxide dismutase and catalase and serum alkaline phosphatase in onychodystrophy in women in the stage of nail rejection]. 2088 15
Proteins anchored to the cell surface via glycosylphosphatidylinositol (GPI) play various key roles in the human body, particularly in development and neurogenesis. As such, many developmental disorders are caused by mutations in genes involved in the GPI biosynthesis and remodeling pathway. We describe ten unrelated families with bi-allelic mutations in PIGB, a gene that encodes phosphatidylinositol glycan class B, which transfers the third mannose to the GPI. Ten different PIGB variants were found in these individuals. Flow cytometric analysis of blood cells and fibroblasts from the affected individuals showed decreased cell surface presence of GPI-anchored proteins. Most of the affected individuals have global developmental and/or intellectual delay, all had seizures, two had polymicrogyria, and four had a peripheral neuropathy. Eight children passed away before four years old. Two of them had a clinical diagnosis of DOORS syndrome (deafness,
onychodystrophy
, osteodystrophy, mental retardation, and seizures), a condition that includes sensorineural deafness, shortened terminal phalanges with small finger and toenails, intellectual disability, and seizures; this condition overlaps with the severe phenotypes associated with inherited GPI deficiency. Most individuals tested showed elevated
alkaline phosphatase
, which is a characteristic of the inherited GPI deficiency but not DOORS syndrome. It is notable that two severely affected individuals showed 2-oxoglutaric aciduria, which can be seen in DOORS syndrome, suggesting that severe cases of inherited GPI deficiency and DOORS syndrome might share some molecular pathway disruptions.
...
PMID:Mutations in PIGB Cause an Inherited GPI Biosynthesis Defect with an Axonal Neuropathy and Metabolic Abnormality in Severe Cases. 3125 76
