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Disease on EC 1.3.1.12 - prephenate dehydrogenase

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DISEASE
TITLE OF PUBLICATION
LINK TO PUBMED
Alzheimer Disease
Diagnosis of Alzheimer's disease.
Carcinoma
Significant overexpression of the Merkel cell polyomavirus (MCPyV) large T antigen in Merkel cell carcinoma.
Carcinoma, Merkel Cell
Significant overexpression of the Merkel cell polyomavirus (MCPyV) large T antigen in Merkel cell carcinoma.
Chordoma
Emerging Therapeutic Targets in Chordomas: A Review of the Literature in the Genomic Era.
glycine dehydrogenase (aminomethyl-transferring) deficiency
Chromosomal localization, structure, single-nucleotide polymorphisms, and expression of the human H-protein gene of the glycine cleavage system (GCSH), a candidate gene for nonketotic hyperglycinemia.
Hyperglycinemia, Nonketotic
A missense mutation (His42Arg) in the T-protein gene from a large Israeli-Arab kindred with nonketotic hyperglycinemia.
A one-base deletion (183delC) and a missense mutation (D276H) in the T-protein gene from a Japanese family with nonketotic hyperglycinemia.
Crystal structure of aminomethyltransferase in complex with dihydrolipoyl-H-protein of the glycine cleavage system: Implications for recognition of lipoyl protein substrate, disease-related mutations, and reaction mechanism.
Crystal structure of human T-protein of glycine cleavage system at 2.0 A resolution and its implication for understanding non-ketotic hyperglycinemia.
Crystal structure of T-protein of the glycine cleavage system. Cofactor binding, insights into H-protein recognition, and molecular basis for understanding nonketotic hyperglycinemia.
Glycine cleavage system: reaction mechanism, physiological significance, and hyperglycinemia.
Identification of the first reported splice site mutation (IVS7-1G-->A) in the aminomethyltransferase (T-protein) gene (AMT) of the glycine cleavage complex in 3 unrelated families with nonketotic hyperglycinemia.
Identification of the mutations in the T-protein gene causing typical and atypical nonketotic hyperglycinemia.
Ketogenic diet in early myoclonic encephalopathy due to non ketotic hyperglycinemia.
Molecular genetic and potential biochemical characteristics of patients with T-protein deficiency as a cause of glycine encephalopathy (NKH).
Nonketotic hyperglycinemia: two patients with primary defects of P-protein and T-protein, respectively, in the glycine cleavage system.
Recurrent mutations in P- and T-proteins of the glycine cleavage complex and a novel T-protein mutation (N145I): a strategy for the molecular investigation of patients with nonketotic hyperglycinemia (NKH).
Infections
Streptococcal impetigo and acute glomerulonephritis in children in Cairo.
Malaria
Plasmodium berghei glycine cleavage system T-protein is non-essential for parasite survival in vertebrate and invertebrate hosts.
Neoplasms
Expression of 15-lipoxygenase-1 in Merkel cell carcinoma is linked to advanced disease.
Immortalization of neuro-endocrine cells from adrenal tumors arising in SV40 T-transgenic mice.
prephenate dehydrogenase deficiency
A one-base deletion (183delC) and a missense mutation (D276H) in the T-protein gene from a Japanese family with nonketotic hyperglycinemia.
Identification of the mutations in the T-protein gene causing typical and atypical nonketotic hyperglycinemia.
Molecular genetic and potential biochemical characteristics of patients with T-protein deficiency as a cause of glycine encephalopathy (NKH).
Scarlet Fever
[Serotype distribution and antimicrobial susceptibility of group A streptococci (Streptococcus pyogenes) isolated in Taiwan]
Tuberculosis
Purification and characterization of a functionally active Mycobacterium tuberculosis prephenate dehydrogenase.