{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\nNMNAT1 is a nuclear nicotinamide mononucleotide adenylyltransferase that catalyzes the final and rate‐limiting step in NAD⁺ biosynthesis, thereby providing a dedicated nuclear pool of NAD⁺ for multiple cellular functions. Its catalytic efficiency, substrate selectivity, and structure have been investigated in detail; NMNAT1 forms a hexameric complex and bears a distinct nuclear localization signal that ensures its targeting to the nucleus. Moreover, NMNAT1 functionally interacts with key nuclear proteins, including PARP‐1 and SirT1, to support poly(ADP‐ribosyl)ation and deacetylation reactions that regulate chromatin structure, gene expression, and DNA repair. These biochemical and structural studies underscore a role for NMNAT1 not only as a classic NAD biosynthetic enzyme but also as an important regulator of nuclear signaling pathways."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "1", "end_ref": "9"}]}, {"type": "t", "text": "\n"}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nIn addition to its central metabolic role, NMNAT1 exhibits robust neuroprotective properties. Its activity is critical for axonal maintenance and resistance to injury, as evidenced by fusion proteins containing NMNAT1 domains (such as the Wld(s) protein) and engineered constructs targeting NMNAT1 to axons that potently delay axonal degeneration. These findings highlight that NMNAT1’s NAD⁺-synthetic activity, when appropriately localized—even outside the nucleus—can directly preserve axonal integrity and promote neuronal survival."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "10", "end_ref": "13"}]}, {"type": "t", "text": "\n"}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nClinically, mutations in NMNAT1 are strongly associated with severe retinal dystrophies—most notably Leber congenital amaurosis (LCA) and related macular atrophic phenotypes—as well as with other neurodegenerative conditions. A spectrum of coding and noncoding mutations in NMNAT1 has been linked to reduced enzymatic activity, compromised protein folding or stability, and altered expression, which in turn may predispose to early‐onset visual impairment, atypical cone–rod dystrophies, and even extend to syndromic presentations that include hereditary spastic paraplegia. In certain cancers and leukemias, NMNAT1 has emerged as a critical dependency that preserves nuclear NAD⁺ pools, regulates p53 and Sirt1 activity, and may influence chemoresistance; similarly, post‐translational modifications (e.g. lactylation) modulate NMNAT1’s localization and function under metabolic stress. These diverse genetic and functional studies underscore NMNAT1’s pivotal contributions to both homeostatic NAD⁺ metabolism and cell survival in health and disease."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "14", "end_ref": "30"}]}, {"type": "t", "text": "\n"}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Felicitas Berger, Corinna Lau, Mathias Dahlmann, et al. 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