Disease on EC 1.3.1.12 - prephenate dehydrogenase
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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.
Hyperglycinemia, Nonketotic
A one-base deletion (183delC) and a missense mutation (D276H) in the T-protein gene from a Japanese family with nonketotic hyperglycinemia.
Hyperglycinemia, Nonketotic
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.
Hyperglycinemia, Nonketotic
Crystal structure of human T-protein of glycine cleavage system at 2.0 A resolution and its implication for understanding non-ketotic hyperglycinemia.
Hyperglycinemia, Nonketotic
Crystal structure of T-protein of the glycine cleavage system. Cofactor binding, insights into H-protein recognition, and molecular basis for understanding nonketotic hyperglycinemia.
Hyperglycinemia, Nonketotic
Glycine cleavage system: reaction mechanism, physiological significance, and hyperglycinemia.
Hyperglycinemia, Nonketotic
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.
Hyperglycinemia, Nonketotic
Identification of the mutations in the T-protein gene causing typical and atypical nonketotic hyperglycinemia.
Hyperglycinemia, Nonketotic
Ketogenic diet in early myoclonic encephalopathy due to non ketotic hyperglycinemia.
Hyperglycinemia, Nonketotic
Molecular genetic and potential biochemical characteristics of patients with T-protein deficiency as a cause of glycine encephalopathy (NKH).
Hyperglycinemia, Nonketotic
Nonketotic hyperglycinemia: two patients with primary defects of P-protein and T-protein, respectively, in the glycine cleavage system.
Hyperglycinemia, Nonketotic
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).
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.
Neoplasms
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.
prephenate dehydrogenase deficiency
Identification of the mutations in the T-protein gene causing typical and atypical nonketotic hyperglycinemia.
prephenate dehydrogenase deficiency
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.
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