A Mutation in the Gene for the Neurotransmitter Receptor–Clustering Protein Gephyrin Causes a Novel Form of Molybdenum Cofactor Deficiency

Gephyrin was originally identified as a membrane-associated protein that is essential for the postsynaptic localization of receptors for the neurotransmitters glycine and GABA(A). A sequence comparison revealed homologies between gephyrin and proteins necessary for the biosynthesis of the universal...

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Autores principales: Reiss, Jochen, Gross-Hardt, Sigrid, Christensen, Ernst, Schmidt, Peter, Mendel, Ralf R., Schwarz, Günter
Formato: Artigo
Lenguaje:Inglês
Publicado: The American Society of Human Genetics 2001
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Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC1234914/
https://ncbi.nlm.nih.gov/pubmed/11095995
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