Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel
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Nikotinamid-/Nikotinsäuremononukleotid-Adenylyltransferase 1

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

Gentests:

Klinisch Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5 Tage
Probentyp genomische DNS
Klinisch Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25 Tage
Probentyp genomische DNS
Forschung Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25 Tage
Probentyp genomische DNS

Verknüpfte Erkrankungen:

Lebersche kongenitale Amaurose 09
NMNAT1

Referenzen:

1.

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

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2.

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

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3.

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

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4.

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

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5.

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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6.

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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7.

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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8.

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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9.

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

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10.

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

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11.

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

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12.

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

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13.

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

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14.

Orphanet article

Orphanet ID 310793 external link
15.

NCBI article

NCBI 64802 external link
16.

OMIM.ORG article

Omim 608700 external link
Update: 14. August 2020
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