Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Glutamate/Aspartate transporter 3

Das SLC1A1-Gen kodiert den renalen und enteralen Aminosäuretransporter für Glutamat und Aspartat. Mutationen sind für die autosomal rezessive Erkrankung Dicarboxyl-Aminoazidurie verantwortlich, die sich vor allem in einer Neigung zu Urolithiasis manifestiert.

Diagnostik:

Research Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5
Probentyp genomic DNA
Research Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25
Probentyp genomic DNA
Clinic Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25
Probentyp genomic DNA

Krankheiten:

Dicarboxyl-Aminoazidurie
SLC1A1

Referenzen:

1.

Kanai Y et. al. (1992) Primary structure and functional characterization of a high-affinity glutamate transporter.

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2.

Smith CP et. al. (1994) Assignment of the gene coding for the human high-affinity glutamate transporter EAAC1 to 9p24: potential role in dicarboxylic aminoaciduria and neurodegenerative disorders.

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3.

Peghini P et. al. (1997) Glutamate transporter EAAC-1-deficient mice develop dicarboxylic aminoaciduria and behavioral abnormalities but no neurodegeneration.

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4.

Lin CI et. al. (2001) Modulation of the neuronal glutamate transporter EAAC1 by the interacting protein GTRAP3-18.

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5.

Aoyama K et. al. (2006) Neuronal glutathione deficiency and age-dependent neurodegeneration in the EAAC1 deficient mouse.

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6.

Bailey CG et. al. (2011) Loss-of-function mutations in the glutamate transporter SLC1A1 cause human dicarboxylic aminoaciduria.

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7.

Berman AE et. al. (2011) N-acetylcysteine prevents loss of dopaminergic neurons in the EAAC1-/- mouse.

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8.

Melhem N et. al. (2011) Copy number variants for schizophrenia and related psychotic disorders in Oceanic Palau: risk and transmission in extended pedigrees.

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9.

Myles-Worsley M et. al. (2013) Deletion at the SLC1A1 glutamate transporter gene co-segregates with schizophrenia and bipolar schizoaffective disorder in a 5-generation family.

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