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Disease on EC 2.7.7.1 - nicotinamide-nucleotide adenylyltransferase

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DISEASE
TITLE OF PUBLICATION
LINK TO PUBMED
Adenocarcinoma of Lung
Mitochondrial Deoxyguanosine Kinase Regulates NAD+ Biogenesis Independent of Mitochondria Complex I Activity.
Alzheimer Disease
NAD-biosynthetic enzyme NMNAT1 reduces early behavioral impairment in the htau mouse model of tauopathy.
Nmnat1 Modulates Mitochondrial Oxidative Stress by Inhibiting Caspase-3 Signaling in Alzheimer's Disease.
Nmnat2 delays axon degeneration in superior cervical ganglia dependent on its NAD synthesis activity.
Anemia, Hemolytic
Deficiency of nicotinamide mononucleotide adenylyltransferase 3 (nmnat3) causes hemolytic anemia by altering the glycolytic flow in mature erythrocytes.
Nmnat3 Is Dispensable in Mitochondrial NAD Level Maintenance In Vivo.
Blindness
A novel missense NMNAT1 mutation identified in a consanguineous family with Leber congenital amaurosis by targeted next generation sequencing.
An Alu-mediated duplication in NMNAT1, involved in NAD biosynthesis, causes a novel syndrome, SHILCA, affecting multiple tissues and organs.
Characterization of Leber Congenital Amaurosis-associated NMNAT1 Mutants.
Clinical and genetic findings in a family with NMNAT1-associated Leber congenital amaurosis: case report and review of the literature.
Coats-like Exudative Vitreoretinopathy in NMNAT1 Leber Congenital Amaurosis.
Exome sequencing identifies NMNAT1 mutations as a cause of Leber congenital amaurosis.
Genome-wide linkage and sequence analysis challenge CCDC66 as a human retinal dystrophy candidate gene and support a distinct NMNAT1-related fundus phenotype.
Hidden Genetic Variation in LCA9-Associated Congenital Blindness Explained by 5'UTR Mutations and Copy-Number Variations of NMNAT1.
Mouse Models of NMNAT1-Leber Congenital Amaurosis (LCA9) Recapitulate Key Features of the Human Disease.
Mutations in NMNAT1 cause Leber congenital amaurosis and identify a new disease pathway for retinal degeneration.
Mutations in NMNAT1 cause Leber congenital amaurosis with early-onset severe macular and optic atrophy.
NMNAT1 E257K variant, associated with Leber Congenital Amaurosis (LCA9), causes a mild retinal degeneration phenotype.
NMNAT1 mutations cause Leber congenital amaurosis.
NMNAT1 variants cause cone and cone-rod dystrophy.
Nonpenetrance of the most frequent autosomal recessive leber congenital amaurosis mutation in NMNAT1.
Novel compound heterozygous NMNAT1 variants associated with Leber congenital amaurosis.
Novel NMNAT1 mutations causing Leber congenital amaurosis identified.
Roles of Nmnat1 in the survival of retinal progenitors through the regulation of pro-apoptotic gene expression via histone acetylation.
SARM1 depletion rescues NMNAT1-dependent photoreceptor cell death and retinal degeneration.
[Mutations in NMNAT1 cause Leber congenital amaurosis with severe macular and optic atrophy].
[Ocular fundus of a newborn with Leber's congenital amaurosis resulting from a mutation of the NMNAT1 gene].
Brain Infarction
Nicotinamide Mononucleotide Adenylyltransferase 1 Protects Neural Cells Against Ischemic Injury in Primary Cultured Neuronal Cells and Mouse Brain with Ischemic Stroke Through AMP-Activated Protein Kinase Activation.
Brain Injuries
Nicotinamide mononucleotide adenylyl transferase 1 protects against acute neurodegeneration in developing CNS by inhibiting excitotoxic-necrotic cell death.
Nicotinamide mononucleotide adenylyltransferase promotes hypoxic survival by activating the mitochondrial unfolded protein response.
Nicotinamide mononucleotide inhibits post-ischemic NAD(+) degradation and dramatically ameliorates brain damage following global cerebral ischemia.
Brain Ischemia
Neuroprotection by nicotinamide mononucleotide adenylyltransferase 1 with involvement of autophagy in an aged rat model of transient cerebral ischemia and reperfusion.
Carcinogenesis
Nicotinamide Mononucleotide Adenylyl Transferase 2: A Promising Diagnostic and Therapeutic Target for Colorectal Cancer.
Carcinoma, Non-Small-Cell Lung
SIRT3 regulates cell proliferation and apoptosis related to energy metabolism in non-small cell lung cancer cells through deacetylation of NMNAT2.
Cardiomegaly
EGCG inhibits pressure overload-induced cardiac hypertrophy via the PSMB5/Nmnat2/SIRT6-dependent signalling pathways.
Nmnat2 protects cardiomyocytes from hypertrophy via activation of SIRT6.
NMNAT3 is involved in the protective effect of SIRT3 in Ang II-induced cardiac hypertrophy.
Cardiomyopathies
Activation of cardiac Nmnat/NAD+/SIR2 pathways mediates endurance exercise resistance to lipotoxic cardiomyopathy in aging Drosophila.
Chagas Disease
Identification of the nicotinamide mononucleotide adenylyltransferase of Trypanosoma cruzi.
Chorioretinitis
Clinical and genetic findings in a family with NMNAT1-associated Leber congenital amaurosis: case report and review of the literature.
Coloboma
Mutations in NMNAT1 cause Leber congenital amaurosis and identify a new disease pathway for retinal degeneration.
Colorectal Neoplasms
Downregulated SIRT6 and upregulated NMNAT2 are associated with the presence, depth and stage of colorectal cancer.
Nicotinamide mononucleotide adenylyltransferase2 overexpression enhances colorectal cancer cell-kill by Tiazofurin.
Cone-Rod Dystrophies
Genome-wide linkage and sequence analysis challenge CCDC66 as a human retinal dystrophy candidate gene and support a distinct NMNAT1-related fundus phenotype.
NMNAT1 variants cause cone and cone-rod dystrophy.
Epilepsy
Upregulated Nmnat2 causes neuronal death and increases seizure susceptibility in temporal lobe epilepsy.
Epilepsy, Temporal Lobe
Upregulated Nmnat2 causes neuronal death and increases seizure susceptibility in temporal lobe epilepsy.
Erythromelalgia
Homozygous NMNAT2 mutation in sisters with polyneuropathy and erythromelalgia.
Fetal Alcohol Spectrum Disorders
Long-lasting alterations to DNA methylation and ncRNAs could underlie the effects of fetal alcohol exposure in mice.
Glaucoma
Axonal protection by Nmnat3 overexpression with involvement of autophagy in optic nerve degeneration.
Protection of mouse retinal ganglion cell axons and soma from glaucomatous and ischemic injury by cytoplasmic overexpression of Nmnat1.
Hearing Loss, Sensorineural
New Insights on the Genetic Basis Underlying SHILCA Syndrome: Characterization of the NMNAT1 Pathological Alterations Due to Compound Heterozygous Mutations and Identification of a Novel Alternative Isoform.
Hypoxia-Ischemia, Brain
NMNAT3 is protective against the effects of neonatal cerebral hypoxia-ischemia.
Insulin Resistance
Obesity Is Associated With Low NAD(+)/SIRT Pathway Expression in Adipose Tissue of BMI-Discordant Monozygotic Twins.
Overexpression of Nmnat3 efficiently increases NAD and NGD levels and ameliorates age-associated insulin resistance.
Insulinoma
Characterization of human brain nicotinamide 5'-mononucleotide adenylyltransferase-2 and expression in human pancreas.
Intellectual Disability
New Insights on the Genetic Basis Underlying SHILCA Syndrome: Characterization of the NMNAT1 Pathological Alterations Due to Compound Heterozygous Mutations and Identification of a Novel Alternative Isoform.
Ischemic Attack, Transient
Neuroprotection by nicotinamide mononucleotide adenylyltransferase 1 with involvement of autophagy in an aged rat model of transient cerebral ischemia and reperfusion.
Ischemic Stroke
Neuroprotection by nicotinamide mononucleotide adenylyltransferase 1 with involvement of autophagy in an aged rat model of transient cerebral ischemia and reperfusion.
Nicotinamide Mononucleotide Adenylyltransferase 1 Protects Neural Cells Against Ischemic Injury in Primary Cultured Neuronal Cells and Mouse Brain with Ischemic Stroke Through AMP-Activated Protein Kinase Activation.
Leber Congenital Amaurosis
A novel missense NMNAT1 mutation identified in a consanguineous family with Leber congenital amaurosis by targeted next generation sequencing.
An Alu-mediated duplication in NMNAT1, involved in NAD biosynthesis, causes a novel syndrome, SHILCA, affecting multiple tissues and organs.
Characterization of Leber Congenital Amaurosis-associated NMNAT1 Mutants.
Coats-like Exudative Vitreoretinopathy in NMNAT1 Leber Congenital Amaurosis.
Exome sequencing identifies NMNAT1 mutations as a cause of Leber congenital amaurosis.
Genome-wide linkage and sequence analysis challenge CCDC66 as a human retinal dystrophy candidate gene and support a distinct NMNAT1-related fundus phenotype.
Mouse Models of NMNAT1-Leber Congenital Amaurosis (LCA9) Recapitulate Key Features of the Human Disease.
Mutations in NMNAT1 cause Leber congenital amaurosis and identify a new disease pathway for retinal degeneration.
Mutations in NMNAT1 cause Leber congenital amaurosis with early-onset severe macular and optic atrophy.
NMNAT1 E257K variant, associated with Leber Congenital Amaurosis (LCA9), causes a mild retinal degeneration phenotype.
NMNAT1 mutations cause Leber congenital amaurosis.
NMNAT1 variants cause cone and cone-rod dystrophy.
Nonpenetrance of the most frequent autosomal recessive leber congenital amaurosis mutation in NMNAT1.
Novel compound heterozygous NMNAT1 variants associated with Leber congenital amaurosis.
Novel NMNAT1 mutations causing Leber congenital amaurosis identified.
Roles of Nmnat1 in the survival of retinal progenitors through the regulation of pro-apoptotic gene expression via histone acetylation.
SARM1 depletion rescues NMNAT1-dependent photoreceptor cell death and retinal degeneration.
[Mutations in NMNAT1 cause Leber congenital amaurosis with severe macular and optic atrophy].
Leishmaniasis
Kinetic and oligomeric study of Leishmania braziliensis nicotinate/nicotinamide mononucleotide adenylyltransferase.
Leukemia
Nuclear NAD+ homeostasis governed by NMNAT1 prevents apoptosis of acute myeloid leukemia stem cells.
Leukemia, Lymphocytic, Chronic, B-Cell
Nad+ metabolism in lymphocytes of patients affected by B-cell chronic lymphocytic leukaemia.
Leukemia, Myeloid, Acute
Nuclear NAD+ homeostasis governed by NMNAT1 prevents apoptosis of acute myeloid leukemia stem cells.
Lung Neoplasms
SIRT3 regulates cell proliferation and apoptosis related to energy metabolism in non-small cell lung cancer cells through deacetylation of NMNAT2.
Lupus Erythematosus, Systemic
Decreased SMG7 expression associates with lupus-risk variants and elevated antinuclear antibody production.
Lymphatic Metastasis
Downregulated SIRT6 and upregulated NMNAT2 are associated with the presence, depth and stage of colorectal cancer.
Malaria
Structural and Functional Characterization of Plasmodium falciparum Nicotinic Acid Mononucleotide Adenylyltransferase.
Mitochondrial Diseases
Mitochondrial impairment activates the Wallerian pathway through depletion of NMNAT2 leading to SARM1-dependent axon degeneration.
Mucocutaneous Lymph Node Syndrome
A genome-wide association analysis identifies NMNAT2 and HCP5 as susceptibility loci for Kawasaki disease.
Neoplasm Metastasis
Downregulated SIRT6 and upregulated NMNAT2 are associated with the presence, depth and stage of colorectal cancer.
Neoplasms
Axonal protection by Nmnat3 overexpression with involvement of autophagy in optic nerve degeneration.
Characterization of human brain nicotinamide 5'-mononucleotide adenylyltransferase-2 and expression in human pancreas.
Development of a Bioluminescent High-Throughput Screening Assay for Nicotinamide Mononucleotide Adenylyltransferase (NMNAT).
Downregulated SIRT6 and upregulated NMNAT2 are associated with the presence, depth and stage of colorectal cancer.
Identification of the Nicotinamide Salvage Pathway as a New Toxification Route for Antimetabolites.
Nicotinamide Mononucleotide Adenylyl Transferase 2: A Promising Diagnostic and Therapeutic Target for Colorectal Cancer.
Nmnat exerts neuroprotective effects in dendrites and axons.
Targeting Nuclear NAD+ Synthesis Inhibits DNA Repair, Impairs Metabolic Adaptation and Increases Chemosensitivity of U-2OS Osteosarcoma Cells.
The NAD+ synthesis enzyme nicotinamide mononucleotide adenylyltransferase (NMNAT1) regulates ribosomal RNA transcription.
Nervous System Diseases
Mutations in NMNAT1 cause Leber congenital amaurosis and identify a new disease pathway for retinal degeneration.
Neurodegenerative Diseases
Axonal trafficking of NMNAT2 and its roles in axon growth and survival in vivo.
Axonal transport plays a crucial role in mediating the axon-protective effects of NmNAT.
Development of a Bioluminescent High-Throughput Screening Assay for Nicotinamide Mononucleotide Adenylyltransferase (NMNAT).
MicroRNA miR-1002 Enhances NMNAT-Mediated Stress Response by Modulating Alternative Splicing.
NAD(P) Biosynthesis Enzymes as Potential Targets for Selective Drug Design.
Nicotinamide Mononucleotide Adenylyltransferase 2 maintains neuronal structural integrity through the maintenance of golgi structure.
Protection of vincristine-induced neuropathy by WldS expression and the independence of the activity of Nmnat1.
nicotinamide-nucleotide adenylyltransferase deficiency
NMN Deamidase Delays Wallerian Degeneration and Rescues Axonal Defects Caused by NMNAT2 Deficiency In Vivo.
NMNAT: It's an NAD(+) synthase… It's a chaperone… It's a neuroprotector.
Rescue of Peripheral and CNS Axon Defects in Mice Lacking NMNAT2.
Severe biallelic loss-of-function mutations in nicotinamide mononucleotide adenylyltransferase 2 (NMNAT2) in two fetuses with fetal akinesia deformation sequence.
Optic Atrophy
Mouse Models of NMNAT1-Leber Congenital Amaurosis (LCA9) Recapitulate Key Features of the Human Disease.
Mutations in NMNAT1 cause Leber congenital amaurosis with early-onset severe macular and optic atrophy.
Optic Nerve Diseases
Axonal protection by Nmnat3 overexpression with involvement of autophagy in optic nerve degeneration.
Osteosarcoma
NMNAT1 Is a Survival Factor in Actinomycin D-Induced Osteosarcoma Cell Death.
Targeting Nuclear NAD+ Synthesis Inhibits DNA Repair, Impairs Metabolic Adaptation and Increases Chemosensitivity of U-2OS Osteosarcoma Cells.
Ovarian Neoplasms
Ribosome ADP-ribosylation inhibits translation and maintains proteostasis in cancers.
Parasitic Diseases
Kinetic and oligomeric study of Leishmania braziliensis nicotinate/nicotinamide mononucleotide adenylyltransferase.
Structural and Functional Characterization of Plasmodium falciparum Nicotinic Acid Mononucleotide Adenylyltransferase.
Peripheral Nerve Injuries
The Wlds transgene reduces axon loss in a Charcot-Marie-Tooth disease 1A rat model and nicotinamide delays post-traumatic axonal degeneration.
Peripheral Nervous System Diseases
Impact of Genetic Reduction of NMNAT2 on Chemotherapy-Induced Losses in Cell Viability In Vitro and Peripheral Neuropathy In Vivo.
Nmnat mitigates sensory dysfunction in a Drosophila model of paclitaxel-induced peripheral neuropathy.
Simultaneous single-sample determination of NMNAT isozyme activities in mouse tissues.
Pheochromocytoma
Three-minute high-performance liquid chromatographic assay for NMN adenylyltransferase using a 20-mm-long reversed-phase column.
Pituitary Neoplasms
Modified cell cycle status in a mouse model of altered neuronal vulnerability (slow Wallerian degeneration; Wlds).
Polyneuropathies
Homozygous NMNAT2 mutation in sisters with polyneuropathy and erythromelalgia.
Retinal Degeneration
Characterization of Leber Congenital Amaurosis-associated NMNAT1 Mutants.
Gene Therapy Preserves Retinal Structure and Function in a Mouse Model of NMNAT1-Associated Retinal Degeneration.
Mutant Nmnat1 leads to a retina-specific decrease of NAD+ accompanied by increased poly(ADP-ribose) in a mouse model of NMNAT1-associated retinal degeneration.
Mutations in NMNAT1 cause Leber congenital amaurosis and identify a new disease pathway for retinal degeneration.
NMNAT1 E257K variant, associated with Leber Congenital Amaurosis (LCA9), causes a mild retinal degeneration phenotype.
SARM1 depletion rescues NMNAT1-dependent photoreceptor cell death and retinal degeneration.
Retinal Diseases
A NOVEL CASE SERIES OF NMNAT1-ASSOCIATED EARLY-ONSET RETINAL DYSTROPHY: EXTENDING THE PHENOTYPIC SPECTRUM.
Exploring the Genetic Landscape of Retinal Diseases in North-Western Pakistan Reveals a High Degree of Autozygosity and a Prevalent Founder Mutation in ABCA4.
Retinal Dystrophies
A NOVEL CASE SERIES OF NMNAT1-ASSOCIATED EARLY-ONSET RETINAL DYSTROPHY: EXTENDING THE PHENOTYPIC SPECTRUM.
Genome-wide linkage and sequence analysis challenge CCDC66 as a human retinal dystrophy candidate gene and support a distinct NMNAT1-related fundus phenotype.
Identity-by-descent-guided mutation analysis and exome sequencing in consanguineous families reveals unusual clinical and molecular findings in retinal dystrophy.
NMNAT1 variants cause cone and cone-rod dystrophy.
Novel compound heterozygous NMNAT1 variants associated with Leber congenital amaurosis.
Sciatic Neuropathy
Reducing expression of NAD(+) synthesizing enzyme NMNAT1 does not affect the rate of Wallerian degeneration.
Seizures
Upregulated Nmnat2 causes neuronal death and increases seizure susceptibility in temporal lobe epilepsy.
Spinocerebellar Ataxias
Alternative splicing of Drosophila Nmnat functions as a switch to enhance neuroprotection under stress.
NAD synthase NMNAT acts as a chaperone to protect against neurodegeneration.
Stroke
Nicotinamide Mononucleotide Adenylyltransferase 1 Protects Neural Cells Against Ischemic Injury in Primary Cultured Neuronal Cells and Mouse Brain with Ischemic Stroke Through AMP-Activated Protein Kinase Activation.
Tauopathies
CREB-activity and nmnat2 transcription are down-regulated prior to neurodegeneration, while NMNAT2 over-expression is neuroprotective, in a mouse model of human tauopathy.
NAD-biosynthetic enzyme NMNAT1 reduces early behavioral impairment in the htau mouse model of tauopathy.
Nicotinamide mononucleotide adenylyltransferase uses its NAD+ substrate-binding site to chaperone phosphorylated Tau.
NMNAT suppresses tau-induced neurodegeneration by promoting clearance of hyperphosphorylated tau oligomers in a Drosophila model of tauopathy.
Nmnat1 protects neuronal function without altering phospho-tau pathology in a mouse model of tauopathy.
Screening with an NMNAT2-MSD platform identifies small molecules that modulate NMNAT2 levels in cortical neurons.
Warts
Nmnat exerts neuroprotective effects in dendrites and axons.
Wilms Tumor
SIRT1 and stem cells: In the forefront with cardiovascular disease, neurodegeneration and cancer.