Radical S-Adenosylmethionine Enzymes in Human Health and Disease.
Annu Rev Biochem
; 85: 485-514, 2016 Jun 02.
Article
em En
| MEDLINE
| ID: mdl-27145839
ABSTRACT
Radical S-adenosylmethionine (SAM) enzymes catalyze an astonishing array of complex and chemically challenging reactions across all domains of life. Of approximately 114,000 of these enzymes, 8 are known to be present in humans MOCS1, molybdenum cofactor biosynthesis; LIAS, lipoic acid biosynthesis; CDK5RAP1, 2-methylthio-N(6)-isopentenyladenosine biosynthesis; CDKAL1, methylthio-N(6)-threonylcarbamoyladenosine biosynthesis; TYW1, wybutosine biosynthesis; ELP3, 5-methoxycarbonylmethyl uridine; and RSAD1 and viperin, both of unknown function. Aberrations in the genes encoding these proteins result in a variety of diseases. In this review, we summarize the biochemical characterization of these 8 radical S-adenosylmethionine enzymes and, in the context of human health, describe the deleterious effects that result from such genetic mutations.
Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
S-Adenosilmetionina
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Doenças Neurodegenerativas
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Diabetes Mellitus Tipo 2
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Cardiopatias Congênitas
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Erros Inatos do Metabolismo dos Metais
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Mutação
Limite:
Humans
Idioma:
En
Revista:
Annu Rev Biochem
Ano de publicação:
2016
Tipo de documento:
Article