PMID 22842230 2012 Mutations in NMNAT1 cause Leber congenital amaurosis and identify a new disease pathway for retinal degeneration.
PMID 14516279 2004 Characterization of human brain nicotinamide 5'-mononucleotide adenylyltransferase-2 and expression in human pancreas.
PMID 12359228 2002 Identification of a novel human nicotinamide mononucleotide adenylyltransferase.
PMID 16118205 2005 Subcellular compartmentation and differential catalytic properties of the three human nicotinamide mononucleotide adenylyltransferase isoforms.
PMID 12574164 2003 Structural characterization of a human cytosolic NMN/NaMN adenylyltransferase and implication in human NAD biosynthesis.
PMID 20943658 2010 Expression, localization, and biochemical characterization of nicotinamide mononucleotide adenylyltransferase 2.
PMID 21615689 2011 Reducing expression of NAD+ synthesizing enzyme NMNAT1 does not affect the rate of Wallerian degeneration.
PMID 24284888 2014 Axonal trafficking of NMNAT2 and its roles in axon growth and survival in vivo.
PMID 25560765 2015 Autosomal recessive lissencephaly with cerebellar hypoplasia is associated with a loss-of-function mutation in CDK5.
PMID 28035283 2016 Stroke-like onset of brain stem degeneration presents with unique MRI sign and heterozygous NMNAT2 variant: a case report.
PMID 24840802 2014 Wallerian degeneration: an emerging axon death pathway linking injury and disease.
PMID 23082226 2012 Nicotinamide mononucleotide adenylyltransferase 2 (Nmnat2) regulates axon integrity in the mouse embryo.
rs768849266 in
NMNAT2 gene and
Multiple congenital anomalies
PMID 20943658 2010 Expression, localization, and biochemical characterization of nicotinamide mononucleotide adenylyltransferase 2.
PMID 24840802 2014 Wallerian degeneration: an emerging axon death pathway linking injury and disease.
PMID 16118205 2005 Subcellular compartmentation and differential catalytic properties of the three human nicotinamide mononucleotide adenylyltransferase isoforms.
PMID 14516279 2004 Characterization of human brain nicotinamide 5'-mononucleotide adenylyltransferase-2 and expression in human pancreas.
PMID 12574164 2003 Structural characterization of a human cytosolic NMN/NaMN adenylyltransferase and implication in human NAD biosynthesis.
PMID 25560765 2015 Autosomal recessive lissencephaly with cerebellar hypoplasia is associated with a loss-of-function mutation in CDK5.
PMID 28035283 2016 Stroke-like onset of brain stem degeneration presents with unique MRI sign and heterozygous NMNAT2 variant: a case report.
PMID 21940452 2011 Cdk5-mediated phosphorylation of Axin directs axon formation during cerebral cortex development.
PMID 23082226 2012 Nicotinamide mononucleotide adenylyltransferase 2 (Nmnat2) regulates axon integrity in the mouse embryo.
PMID 22842230 2012 Mutations in NMNAT1 cause Leber congenital amaurosis and identify a new disease pathway for retinal degeneration.
PMID 24284888 2014 Axonal trafficking of NMNAT2 and its roles in axon growth and survival in vivo.
PMID 12359228 2002 Identification of a novel human nicotinamide mononucleotide adenylyltransferase.
PMID 21615689 2011 Reducing expression of NAD+ synthesizing enzyme NMNAT1 does not affect the rate of Wallerian degeneration.