These data suggest that parkin reduces α-Synuclein levels and alters the balance between phosphatase and kinase activities that affect the levels of phosphorylated α-Synuclein. (biomedcentral.com)
Both are linked to transformation due to deregulated kinase/phosphatase signaling or STAT5 gain-of-function (GOF) mutations. (nature.com)
Genes1
Screening the regulated genes revealed astrocytic expression of the astray-encoded phosphoserine phosphatase to bi-directionally regulate water consumption. (ox.ac.uk)
Mutations1
Homozygous or compound heterozygous mutations in PSPH cause Neu-Laxova syndrome and Phosphoserine phosphatase deficiency. (wikipedia.org)
PSPH6
Phosphoserine phosphatase is an enzyme that in humans is encoded by the PSPH gene. (wikipedia.org)
Homozygous or compound heterozygous mutations in PSPH cause Neu-Laxova syndrome and Phosphoserine phosphatase deficiency. (wikipedia.org)
The diagnosis of a serine deficiency disorder is established in a proband with biallelic pathogenic variants in PHGDH , PSAT1 , or PSPH identified by molecular genetic testing . (nih.gov)
Phosphoserine phosphatase (PSPH) is one of the key enzymes of the L-serine synthesis pathway. (molcells.org)
Upon measuring the phosphatase activity of PSPH on a serine-phosphorylated peptide, we found that PSPH dephosphorylated phospho-serine in peptide sequences. (molcells.org)
Serine is a nonessential amino acid generated by the sequential actions of phosphoglycerate dehydrogenase (PHGDH), phosphoserine aminotransferase (PSAT1), and phosphoserine phosphatase (PSPH). (nih.gov)
Aminotransferase1
The other two disorders in L-serine biosynthesis phosphoserine aminotransferase (PSAT) deficiency and phosphoserine phosphatase (PSP) deficiency have been reported only in a limited number of patients. (nih.gov)
Serine deficiency disorders6
Serine deficiency disorders are caused by a defect in one of the three synthesising enzymes of the L-serine biosynthesis pathway. (nih.gov)
Serine deficiency disorders give rise to a neurological phenotype with psychomotor retardation, microcephaly and seizures in newborns and children or progressive polyneuropathy in adult patients. (nih.gov)
Prompt recognition of affected patients is important, since serine deficiency disorders are treatable causes of neurometabolic disorders. (nih.gov)
Two new cases of serine deficiency disorders treated with l-serine. (nih.gov)
Serine deficiency disorders include a spectrum of disease ranging from lethal prenatal-onset Neu-Laxova syndrome to serine deficiency with infantile, juvenile, or adult onset. (nih.gov)
Serine deficiency disorders are inherited in an autosomal recessive manner. (nih.gov)
Hydrolysis2
It catalyzes magnesium-dependent hydrolysis of L-phosphoserine and is also involved in an exchange reaction between L-serine and L-phosphoserine. (wikipedia.org)
The enzyme deficiency is either familial or can be acquired through lead poisoning. (cornell.edu)
The active site of this enzyme is structurally highly similar to those of phosphoserine phosphatases. (cornell.edu)
Inhibitors1
CDK4/6 inhibitors target SMARCA4-determined cyclin D1 deficiency in hypercalcemic small cell carcinoma of the ovary. (cancerindex.org)
Syndrome2
Deficiency of this protein is thought to be linked to Williams syndrome. (wikipedia.org)
Neu-Laxova syndrome is characterized by severe intrauterine growth deficiency, microcephaly, congenital bilateral cataracts, characteristic dysmorphic features, limb anomalies, and collodion-like ichthyosis. (nih.gov)
Pathway1
There are three defects that cause serine deficiency of which 3-phosphoglycerate dehydrogenase (3-PGDH) deficiency, the defect affecting the first step in the pathway, has been reported most frequently. (nih.gov)
Heterozygous1
If both parents are known to be heterozygous for a serine deficiency-causing pathogenic variant , each sib of an affected individual has at conception a 25% chance of being affected, a 50% chance of being an asymptomatic carrier , and a 25% chance of inheriting neither of the familial pathogenic variants. (nih.gov)
Ataxia1
Adult-onset serine deficiency is characterized by progressive axonal polyneuropathy with ataxia and possible cognitive impairment. (nih.gov)
Diagnosis1
The use of age-related reference values for serine in CSF and plasma can be of great help in establishing a correct diagnosis of serine deficiency, in particular in newborns and young children. (nih.gov)
Juvenile1
Individuals that present with juvenile-onset serine deficiency have seizures and many develop spastic quadriplegia. (nih.gov)
Activity1
Deficiency of P5N-1 activity in red blood cells results in nonspherocytic hemolytic anemia. (cornell.edu)