Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Nikotinamid-/Nikotinsäuremononukleotid-Adenylyltransferase 1

Das NMNAT1-Gen kodiert ein Enzym des Nikotinamid-Stoffwechsels. Mutationen verursachen autosomal rezessive Lebersche kongenitale Amaurose Typ 9.

Diagnostik:

Clinic 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:

Lebersche kongenitale Amaurose 09
NMNAT1

Referenzen:

1.

Emanuelli M et. al. (2001) Molecular cloning, chromosomal localization, tissue mRNA levels, bacterial expression, and enzymatic properties of human NMN adenylyltransferase.

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2.

Schweiger M et. al. (2001) Characterization of recombinant human nicotinamide mononucleotide adenylyl transferase (NMNAT), a nuclear enzyme essential for NAD synthesis.

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3.

Zhou T et. al. (2002) Structure of human nicotinamide/nicotinic acid mononucleotide adenylyltransferase. Basis for the dual substrate specificity and activation of the oncolytic agent tiazofurin.

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4.

Fernando FS et. al. (2002) Human homologue of a gene mutated in the slow Wallerian degeneration (C57BL/Wld(s)) mouse.

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5.

Zhang X et. al. (2003) Structural characterization of a human cytosolic NMN/NaMN adenylyltransferase and implication in human NAD biosynthesis.

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6.

Keen TJ et. al. (2003) Identification of a locus (LCA9) for Leber's congenital amaurosis on chromosome 1p36.

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7.

Araki T et. al. (2004) Increased nuclear NAD biosynthesis and SIRT1 activation prevent axonal degeneration.

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8.

MacDonald JM et. al. (2006) The Drosophila cell corpse engulfment receptor Draper mediates glial clearance of severed axons.

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9.

Zhai RG et. al. (2006) Drosophila NMNAT maintains neural integrity independent of its NAD synthesis activity.

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10.

Zhai RG et. al. (2008) NAD synthase NMNAT acts as a chaperone to protect against neurodegeneration.

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11.

Falk MJ et. al. (2012) NMNAT1 mutations cause Leber congenital amaurosis.

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12.

Perrault I et. al. (2012) Mutations in NMNAT1 cause Leber congenital amaurosis with early-onset severe macular and optic atrophy.

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13.

Koenekoop RK et. al. (2012) Mutations in NMNAT1 cause Leber congenital amaurosis and identify a new disease pathway for retinal degeneration.

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