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Characterization of Leber Congenital Amaurosis-associated NMNAT1 Mutants
scientific article published on 27 May 2015
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scholarly article
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Europe PubMed Central
PMC publication ID
4498062
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26018082%20AND%20SRC:MED&resulttype=core&format=json
retrieved
15 February 2020
title
Characterization of Leber Congenital Amaurosis-associated NMNAT1 Mutants
(English)
1 reference
stated in
Europe PubMed Central
PMC publication ID
4498062
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26018082%20AND%20SRC:MED&resulttype=core&format=json
retrieved
15 February 2020
main subject
congenital disorder
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author
Jeffrey Milbrandt
series ordinal
5
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Europe PubMed Central
PMC publication ID
4498062
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26018082%20AND%20SRC:MED&resulttype=core&format=json
retrieved
15 February 2020
author name string
Yo Sasaki
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1
1 reference
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Europe PubMed Central
PMC publication ID
4498062
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26018082%20AND%20SRC:MED&resulttype=core&format=json
retrieved
15 February 2020
Zachary Margolin
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2
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PMC publication ID
4498062
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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26018082%20AND%20SRC:MED&resulttype=core&format=json
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15 February 2020
Benjamin Borgo
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3
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PMC publication ID
4498062
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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26018082%20AND%20SRC:MED&resulttype=core&format=json
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15 February 2020
James J Havranek
series ordinal
4
1 reference
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Europe PubMed Central
PMC publication ID
4498062
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26018082%20AND%20SRC:MED&resulttype=core&format=json
retrieved
15 February 2020
language of work or name
English
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publication date
27 May 2015
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stated in
Europe PubMed Central
PMC publication ID
4498062
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26018082%20AND%20SRC:MED&resulttype=core&format=json
retrieved
15 February 2020
published in
Journal of Biological Chemistry
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Europe PubMed Central
PMC publication ID
4498062
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26018082%20AND%20SRC:MED&resulttype=core&format=json
retrieved
15 February 2020
volume
290
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4498062
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26018082%20AND%20SRC:MED&resulttype=core&format=json
retrieved
15 February 2020
issue
28
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Europe PubMed Central
PMC publication ID
4498062
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26018082%20AND%20SRC:MED&resulttype=core&format=json
retrieved
15 February 2020
page(s)
17228-17238
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Europe PubMed Central
PMC publication ID
4498062
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26018082%20AND%20SRC:MED&resulttype=core&format=json
retrieved
15 February 2020
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ImageJ
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11 June 2022
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https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4498062/fullTextXML
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Molecular chaperones protect against JNK- and Nmnat-regulated axon degeneration in Drosophila
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Exome sequencing identifies NMNAT1 mutations as a cause of Leber congenital amaurosis
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Mutations in NMNAT1 cause Leber congenital amaurosis and identify a new disease pathway for retinal degeneration
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Mutations in NMNAT1 cause Leber congenital amaurosis with early-onset severe macular and optic atrophy
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NMNAT1 mutations cause Leber congenital amaurosis
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A model of toxic neuropathy in Drosophila reveals a role for MORN4 in promoting axonal degeneration
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Automated selection of stabilizing mutations in designed and natural proteins
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Image-based screening identifies novel roles for IkappaB kinase and glycogen synthase kinase 3 in axonal degeneration
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Reducing expression of NAD+ synthesizing enzyme NMNAT1 does not affect the rate of Wallerian degeneration
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Transgenic mice expressing the Nmnat1 protein manifest robust delay in axonal degeneration in vivo
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Nicotinamide mononucleotide adenylyl transferase-mediated axonal protection requires enzymatic activity but not increased levels of neuronal nicotinamide adenine dinucleotide
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Nmnat delays axonal degeneration caused by mitochondrial and oxidative stress
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Initial-rate kinetics of human NMN-adenylyltransferases: substrate and metal ion specificity, inhibition by products and multisubstrate analogues, and isozyme contributions to NAD+ biosynthesis
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Drosophila NMNAT maintains neural integrity independent of its NAD synthesis activity
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Light-induced damage to the retina: role of rhodopsin chromophore revisited
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Increased nuclear NAD biosynthesis and SIRT1 activation prevent axonal degeneration
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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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Native protein sequences are close to optimal for their structures
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Protein denaturation during heat shock and related stress. Escherichia coli beta-galactosidase and Photinus pyralis luciferase inactivation in mouse cells
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Identifiers
DOI
10.1074/JBC.M115.637850
1 reference
stated in
Europe PubMed Central
PMC publication ID
4498062
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26018082%20AND%20SRC:MED&resulttype=core&format=json
retrieved
15 February 2020
PMC publication ID
4498062
1 reference
stated in
Europe PubMed Central
PMC publication ID
4498062
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26018082%20AND%20SRC:MED&resulttype=core&format=json
retrieved
15 February 2020
PubMed publication ID
26018082
1 reference
stated in
Europe PubMed Central
PMC publication ID
4498062
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26018082%20AND%20SRC:MED&resulttype=core&format=json
retrieved
15 February 2020
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