PubMed (GeneRIF) for id: 64802

Year	Number of Results
2001	1
2002	3
2003	1
2005	1
2007	2
2009	3
2010	7
2012	3
2013	3
2014	2
2015	4
2017	2
2018	2
2020	1
2021	4
2022	1
2023	1
2024	1

1

Lactate enhances NMNAT1 lactylation to sustain nuclear NAD⁺ salvage pathway and promote survival of pancreatic adenocarcinoma cells under glucose-deprived conditions.

Huang H, Wang S, Xia H, Zhao X, Chen K, Jin G, Zhou S, Lu Z, Chen T, Yu H, Zheng X, Huang H, Lan L. Huang H, et al. Cancer Lett. 2024 Apr 28;588:216806. doi: 10.1016/j.canlet.2024.216806. Epub 2024 Mar 11. Cancer Lett. 2024. PMID: 38467179

2

NMNAT1 and hereditary spastic paraplegia (HSP): expanding the phenotypic spectrum of NMNAT1 variants.

Sadr Z, Ghasemi A, Rohani M, Alavi A. Sadr Z, et al. Neuromuscul Disord. 2023 Apr;33(4):295-301. doi: 10.1016/j.nmd.2023.02.001. Epub 2023 Feb 8. Neuromuscul Disord. 2023. PMID: 36871412

3

Clinical features and genetic spectrum of NMNAT1-associated retinal degeneration.

Yi Z, Li S, Wang S, Xiao X, Sun W, Zhang Q. Yi Z, et al. Eye (Lond). 2022 Dec;36(12):2279-2285. doi: 10.1038/s41433-021-01853-y. Epub 2021 Nov 26. Eye (Lond). 2022. PMID: 34837036 Free PMC article.

4

Nuclear NAD⁺ homeostasis governed by NMNAT1 prevents apoptosis of acute myeloid leukemia stem cells.

Shi X, Jiang Y, Kitano A, Hu T, Murdaugh RL, Li Y, Hoegenauer KA, Chen R, Takahashi K, Nakada D. Shi X, et al. Sci Adv. 2021 Jul 21;7(30):eabf3895. doi: 10.1126/sciadv.abf3895. Print 2021 Jul. Sci Adv. 2021. PMID: 34290089 Free PMC article.

5

Coats-like Exudative Vitreoretinopathy in NMNAT1 Leber Congenital Amaurosis.

Han J, Kim TY, Kim M. Han J, et al. Ophthalmol Retina. 2021 Jul;5(7):624. doi: 10.1016/j.oret.2021.04.010. Ophthalmol Retina. 2021. PMID: 34243968 No abstract available.

6

An Alu-mediated duplication in NMNAT1, involved in NAD biosynthesis, causes a novel syndrome, SHILCA, affecting multiple tissues and organs.

Bedoni N, Quinodoz M, Pinelli M, Cappuccio G, Torella A, Nigro V, Testa F, Simonelli F; TUDP (Telethon Undiagnosed Disease Program); Corton M, Lualdi S, Lanza F, Morana G, Ayuso C, Di Rocco M, Filocamo M, Banfi S, Brunetti-Pierri N, Superti-Furga A, Rivolta C. Bedoni N, et al. Hum Mol Genet. 2020 Aug 3;29(13):2250-2260. doi: 10.1093/hmg/ddaa112. Hum Mol Genet. 2020. PMID: 32533184

7

A NOVEL CASE SERIES OF NMNAT1-ASSOCIATED EARLY-ONSET RETINAL DYSTROPHY: EXTENDING THE PHENOTYPIC SPECTRUM.

Kumaran N, Robson AG, Michaelides M. Kumaran N, et al. Retin Cases Brief Rep. 2021 Mar 1;15(2):139-144. doi: 10.1097/ICB.0000000000000754. Retin Cases Brief Rep. 2021. PMID: 30004997

8

NMNAT1 variants cause cone and cone-rod dystrophy.

Nash BM, Symes R, Goel H, Dinger ME, Bennetts B, Grigg JR, Jamieson RV. Nash BM, et al. Eur J Hum Genet. 2018 Mar;26(3):428-433. doi: 10.1038/s41431-017-0029-7. Epub 2017 Nov 28. Eur J Hum Genet. 2018. PMID: 29184169 Free PMC article.

9

Genome-wide linkage and sequence analysis challenge CCDC66 as a human retinal dystrophy candidate gene and support a distinct NMNAT1-related fundus phenotype.

Khan AO, Budde BS, Nürnberg P, Kawalia A, Lenzner S, Bolz HJ. Khan AO, et al. Clin Genet. 2018 Jan;93(1):149-154. doi: 10.1111/cge.13022. Epub 2017 May 9. Clin Genet. 2018. PMID: 28369829

10

Clinical and genetic findings in a family with NMNAT1-associated Leber congenital amaurosis: case report and review of the literature.

Hedergott A, Volk AE, Herkenrath P, Thiele H, Fricke J, Altmüller J, Nürnberg P, Kubisch C, Neugebauer A. Hedergott A, et al. Graefes Arch Clin Exp Ophthalmol. 2015 Dec;253(12):2239-46. doi: 10.1007/s00417-015-3174-0. Epub 2015 Oct 13. Graefes Arch Clin Exp Ophthalmol. 2015. PMID: 26464178 Review.

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