Article

Severe Biallelic Loss-of-function Mutations in Nicotinamide Mononucleotide Adenylyltransferase 2 (NMNAT2) in Two Fetuses with Fetal Akinesia Deformation Sequence

2019-04-20

Abstract excerpt

The three nicotinamide mononucleotide adenylyltransferase (NMNAT) family members synthesize the electron carrier nicotinamide adenine dinucleotide (NAD + ) and are essential for cellular metabolism. In mammalian axons, NMNAT activity appears to be required for axon survival and is predominantly provided by NMNAT2. NMNAT2 has recently been shown to also function as a chaperone to aid in the refolding of misfolded...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 19a884fd-3ecc-5621-9b61-6788cb9b6abe
DOI: 10.1101/610899

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Severe Biallelic Loss-of-function Mutations in Nicotinamide Mononucleotide Adenylyltransferase 2 (NMNAT2) in Two Fetuses with Fetal Akinesia Deformation SequenceDOI 10.1101/610899Read

Severe biallelic loss-of-function mutations in nicotinamide mononucleotide adenylyltransferase 2 (NMNAT2) in two fetuses with fetal akinesia deformation sequence.Semantic proximity Read

Homozygous NMNAT2 mutation in sisters with polyneuropathy and erythromelalgiaSemantic proximity Read

Programmed axon degeneration gene variants in human disease.Semantic proximity Read

Low levels of NMNAT2 compromise axon development and survivalSemantic proximity Read

Fetal akinesia deformation sequence and neuroaxonal dystrophy without PLA2G6 mutation.Semantic proximity Read

The genomic and clinical landscape of fetal akinesia.Semantic proximity Read

Mid-Gestation lethality of Atxn2l-Ablated MiceSemantic proximity Read

The evolving genetic landscape of neuromuscular fetal akinesiasSemantic proximity Read

Genetics of neuromuscular fetal akinesia in the genomics era.Semantic proximity Read

Characterization of a novel variant in the HR1 domain of MFN2 in a patient with ataxia, optic atrophy and sensorineural hearing lossSemantic proximity Read

Fetal akinesia: review of the genetics of the neuromuscular causes.Semantic proximity Read

Mutations in NMNAT1 cause Leber congenital amaurosis and identify a new disease pathway for retinal degeneration.Semantic proximity Read

Severe Biallelic Loss-of-function Mutations in <i>Nicotinamide Mononucleotide Adenylyltransferase 2 (NMNAT2)</i> in Two Fetuses with Fetal Akinesia Deformation Sequence

Abstract excerpt

Topics

Identifiers and source

Related research