NMNAT1 mutations cause Leber congenital amaurosis
NMNAT1 mutations cause Leber congenital amaurosis
About this item
Full title
Author / Creator
Falk, Marni J , Zhang, Qi , Nakamaru-Ogiso, Eiko , Kannabiran, Chitra , Fonseca-Kelly, Zoe , Chakarova, Christina , Audo, Isabelle , Mackay, Donna S , Zeitz, Christina , Borman, Arundhati Dev , Staniszewska, Magdalena , Shukla, Rachna , Palavalli, Lakshmi , Mohand-Said, Saddek , Waseem, Naushin H , Jalali, Subhadra , Perin, Juan C , Place, Emily , Ostrovsky, Julian , Xiao, Rui , Bhattacharya, Shomi S , Consugar, Mark , Webster, Andrew R , Sahel, José-Alain , Moore, Anthony T , Berson, Eliot L , Liu, Qin , Gai, Xiaowu and Pierce, Eric A
Publisher
New York: Nature Publishing Group US
Journal title
Language
English
Formats
Publication information
Publisher
New York: Nature Publishing Group US
Subjects
More information
Scope and Contents
Contents
Eric Pierce, Xiaowu Gai and colleagues identify mutations in
NMNAT1
as a new cause of Leber congenital amaurosis, an early-onset form of retinal degeneration.
NMNAT1
encodes an isoform of nicotinamide mononucleotide adenylyltransferase, which is required for nicotinamide adenine dinucleotide (NAD
+
) biosynthesis.
Leber congeni...
Alternative Titles
Full title
NMNAT1 mutations cause Leber congenital amaurosis
Authors, Artists and Contributors
Author / Creator
Zhang, Qi
Nakamaru-Ogiso, Eiko
Kannabiran, Chitra
Fonseca-Kelly, Zoe
Chakarova, Christina
Audo, Isabelle
Mackay, Donna S
Zeitz, Christina
Borman, Arundhati Dev
Staniszewska, Magdalena
Shukla, Rachna
Palavalli, Lakshmi
Mohand-Said, Saddek
Waseem, Naushin H
Jalali, Subhadra
Perin, Juan C
Place, Emily
Ostrovsky, Julian
Xiao, Rui
Bhattacharya, Shomi S
Consugar, Mark
Webster, Andrew R
Sahel, José-Alain
Moore, Anthony T
Berson, Eliot L
Liu, Qin
Gai, Xiaowu
Pierce, Eric A
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_3454532
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_3454532
Other Identifiers
ISSN
1061-4036
E-ISSN
1546-1718
DOI
10.1038/ng.2361
