http://www.cnr.it/ontology/cnr/individuo/prodotto/ID12890

AGC1 deficiency associated with global cerebral hypomyelination. (Articolo in rivista)

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AGC1 deficiency associated with global cerebral hypomyelination. (Articolo in rivista) (literal)

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Alternative label

Wibom R. , F.M. Lasorsa, V. Töhönen, M. Barbaro, F.H. Sterky, T. Kucinski, Ph.D., K. Naess, M. Jonsson, C.L. Pierri, F.Palmieri and A. Wedell (2009)
AGC1 deficiency associated with global cerebral hypomyelination.
in The New England journal of medicine (Print); MASSACHUSETTS MEDICAL SOC,, WALTHAM, (Stati Uniti d'America)
(literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#autori

Wibom R. , F.M. Lasorsa, V. Töhönen, M. Barbaro, F.H. Sterky, T. Kucinski, Ph.D., K. Naess, M. Jonsson, C.L. Pierri, F.Palmieri and A. Wedell (literal)

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Note

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Center for Inherited Metabolic Diseases (R.W., M.B., K.N., A.W.) and the Department of Neuroradiology (T.K.), Karolinska University Hospital; and the Department of Molecular Medicine and Surgery, Center for Molecular Medicine, the Department of Laboratory Medicine, and the Department of Clinical Neuroscience, Karolinska Institutet Laboratory of Biochemistry and Molecular Biology, Department of Pharmaco-Biology, University of Bari, Via Orabona 4, 70125 Bari Italy National Research Council Institute of Biomembranes and Bioenergetics (IBBE), via Amendola 165/A, 70126, Bari, Italy (literal)

Titolo

Abstract

The mitochondrial aspartate-glutamate carrier isoform 1 (AGC1), specific to neurons and muscle, supplies aspartate to the cytosol and, as a component of the malate- aspartate shuttle, enables mitochondrial oxidation of cytosolic NADH, thought to be important in providing energy for neurons in the central nervous system. We describe AGC1 deficiency, a novel syndrome characterized by arrested psychomotor development, hypotonia, and seizures in a child with a homozygous missense mutation in the solute carrier family 25, member 12, gene SLC25A12, which encodes the AGC1 protein. Functional analysis of the mutant AGC1 protein showed abolished activity. The child had global hypomyelination in the cerebral hemispheres, suggesting that impaired efflux of aspartate from neuronal mitochondria prevents normal myelin formation. (literal)

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