Novel compound heterozygous NMNAT1 variants associated with Leber congenital amaurosis (Q33706297)

28 July 2017

title

Novel compound heterozygous NMNAT1 variants associated with Leber congenital amaurosis (English)

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28 July 2017

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14

Rob W J Collin

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15

Frans P M Cremers

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13

Anneke I den Hollander

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B Jeroen Klevering

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L Ingeborgh van den Born

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object named as

L Ingeborgh van den Born

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Anna M Siemiatkowska

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Maria M van Genderen

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Mette Bertelsen

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Ditta Zobor

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Klaus Rohrschneider

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Ramon A C van Huet

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Siska Nurohmah

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Susanne Kohl

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Sultana M H Faradz

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Thomas Rosenberg

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publication date

2 June 2014

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volume

20

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28 July 2017

page(s)

753-759

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Exome sequencing identifies NMNAT1 mutations as a cause of Leber congenital amaurosis

28 July 2017

cites work

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4043607

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

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4043607

Mutations in NMNAT1 cause Leber congenital amaurosis with early-onset severe macular and optic atrophy

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4043607

NMNAT1 mutations cause Leber congenital amaurosis

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4043607

Reducing expression of NAD+ synthesizing enzyme NMNAT1 does not affect the rate of Wallerian degeneration

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4043607

Lighting a candle in the dark: advances in genetics and gene therapy of recessive retinal dystrophies

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4043607

Retinitis pigmentosa and other dystrophies.

14 July 2018

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The molecular basis of human retinal and vitreoretinal diseases

14 July 2018

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Wallerian degeneration, wld(s), and nmnat

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4043607

Wld S requires Nmnat1 enzymatic activity and N16-VCP interactions to suppress Wallerian degeneration

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4043607

Initial-rate kinetics of human NMN-adenylyltransferases: substrate and metal ion specificity, inhibition by products and multisubstrate analogues, and isozyme contributions to NAD+ biosynthesis

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4043607

14 July 2018

1 reference

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Drosophila NMNAT maintains neural integrity independent of its NAD synthesis activity

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4043607

NAD(+) and axon degeneration revisited: Nmnat1 cannot substitute for Wld(S) to delay Wallerian degeneration

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4043607

Subcellular compartmentation and differential catalytic properties of the three human nicotinamide mononucleotide adenylyltransferase isoforms

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4043607

Wallerian degeneration of injured axons and synapses is delayed by a Ube4b/Nmnat chimeric gene.

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4043607

Bilateral macular atrophy in blue cone monochromacy (BCM) with loss of the locus control region (LCR) and part of the red pigment gene.

14 July 2018

1 reference

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A simple salting out procedure for extracting DNA from human nucleated cells

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4043607

Retinal dystrophy and macular coloboma

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4043607

Genetic etiology and clinical consequences of complete and incomplete achromatopsia.

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4043607

Nicotinamide mononucleotide adenylyltransferase expression in mitochondrial matrix delays Wallerian degeneration.

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4043607

30 October 2018

Identifiers

PMC publication ID

4043607

1 reference

28 July 2017

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