ArticleExperimental neurology2019
Severe biallelic loss-of-function mutations in nicotinamide mononucleotide adenylyltransferase 2 (NMNAT2) in two fetuses with fetal akinesia deformation sequence.
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In one paragraph
Article in Experimental neurology, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 38 papers.
0numbers the graph read from it
0cells of the map it votes in
38citing papers in PubMed
3.6field-weighted citation impact, top 6% of its field
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
38 citing papers in PubMed, 61 citations in OpenAlex.
- Peripheral Neuropathy in Metabolic Stress.International journal of molecular sciences · 2026Review
- Programmed axon degeneration: mechanism, inhibition and therapeutic potential.Nature reviews. Neuroscience · 2026Review
- The evolving genetic landscape of neuromuscular fetal akinesias.Journal of neuromuscular diseases · 2025Review
- Article
- Chronically Low NMNAT2 Expression Causes Sub-lethal SARM1 Activation and Altered Response to Nicotinamide Riboside in Axons.Molecular neurobiology · 2025Article
- Augustus Waller's foresight realized: SARM1 in peripheral neuropathies.Current opinion in neurobiology · 2024Review
- Programmed axon death: a promising target for treating retinal and optic nerve disorders.Eye (London, England) · 2024Review
- Channeling Nicotinamide Phosphoribosyltransferase (NAMPT) to Address Life and Death.Journal of medicinal chemistry · 2024Review
- Nicotinamide Adenine Dinucleotide (NADAntioxidants & redox signaling · 2023Review
- NADAntioxidants & redox signaling · 2023Review
- Neuromuscular disease: 2023 update.Free neuropathology · 2023Article
- SARM1 detection in myelinating glia:Frontiers in cellular neuroscience · 2023Article
- Macrophage depletion blocks congenital SARM1-dependent neuropathy.The Journal of clinical investigation · 2022Article
- An atypical ubiquitin ligase at the heart of neural development and programmed axon degeneration.Neural regeneration research · 2022Review
- Selective inhibitors of SARM1 targeting an allosteric cysteine in the autoregulatory ARM domain.Proceedings of the National Academy of Sciences of the United States of America · 2022Article
- Natural variants of human SARM1 cause both intrinsic and dominant loss-of-function influencing axon survival.Scientific reports · 2022Article
- Axon Biology in ALS: Mechanisms of Axon Degeneration and Prospects for Therapy.Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics · 2022Review
- The key role of the NAD biosynthetic enzyme nicotinamide mononucleotide adenylyltransferase in regulating cell functions.IUBMB life · 2022Review
- NMNAT2 is downregulated in glaucomatous RGCs, and RGC-specific gene therapy rescues neurodegeneration and visual function.Molecular therapy : the journal of the American Society of Gene Therapy · 2022Article
- NADCell insight · 2022Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
12 authors at 6 institutions in 4 countries.
Marshall LukacsDivision of Human Genetics, Cincinnati Children's Hospital Medical Center, Department of Pediatrics, University of Cincinnati, Cincinnati, OH, 45229, USA.. Electronic address: Marshall.luckas@cchmc.org.
Jonathan GilleyJohn van Geest Centre for Brain Repair, University of Cambridge, ED Adrian Building, Forvie Site, Robinson Way, Cambridge, CB2 0PY, UK.; Signalling ISPG, The Babraham Institute, Babraham, Cambridge CB22 3AT, UK. Electronic address: jg792@cam.ac.uk.
Yi ZhuDepartment of Molecular and Cellular Pharmacology, University of Miami Miller School of Medicine, Miami, FL, 33136, USA. Electronic address: y.zhu17@med.miami.edu.
Giuseppe OrsomandoDepartment of Clinical Sciences (DISCO), Section of Biochemistry, Polytechnic University of Marche, Via Ranieri 67, 60131, Ancona, Italy. Electronic address: g.orsomando@univpm.it.
Carlo AngelettiDepartment of Clinical Sciences (DISCO), Section of Biochemistry, Polytechnic University of Marche, Via Ranieri 67, 60131, Ancona, Italy. Electronic address: c.angeletti@staff.univpm.it.
Jiaqi LiuSchool of Pharmacy, Key Laboratory of Molecular Pharmacology and Drug Evaluation (Yantai University), Ministry of Education, Collaborative Innovation Center of Advanced Drug Delivery System and Biotech Drugs in Universities of Shandong, Yantai University, Yantai, Shandong 264005, China. Electronic address: jxl2095@miami.edu.
Xiuna YangJohn van Geest Centre for Brain Repair, University of Cambridge, ED Adrian Building, Forvie Site, Robinson Way, Cambridge, CB2 0PY, UK.
Joun ParkDepartment of Molecular and Cellular Pharmacology, University of Miami Miller School of Medicine, Miami, FL, 33136, USA. Electronic address: jpark@med.miami.edu.
Robert J HopkinDivision of Human Genetics, Cincinnati Children's Hospital Medical Center, Department of Pediatrics, University of Cincinnati, Cincinnati, OH, 45229, USA.. Electronic address: rob.hopkin@cchmc.org.
Michael P ColemanJohn van Geest Centre for Brain Repair, University of Cambridge, ED Adrian Building, Forvie Site, Robinson Way, Cambridge, CB2 0PY, UK.; Signalling ISPG, The Babraham Institute, Babraham, Cambridge CB22 3AT, UK. Electronic address: mc469@cam.ac.uk.
R Grace ZhaiDepartment of Molecular and Cellular Pharmacology, University of Miami Miller School of Medicine, Miami, FL, 33136, USA; School of Pharmacy, Key Laboratory of Molecular Pharmacology and Drug Evaluation (Yantai University), Ministry of Education, Collaborative Innovation Center of Advanced Drug Delivery System and Biotech Drugs in Universities of Shandong, Yantai University, Yantai, Shandong 264005, China. Electronic address: gzhai@med.miami.edu.
Rolf W StottmannDivision of Human Genetics, Cincinnati Children's Hospital Medical Center, Department of Pediatrics, University of Cincinnati, Cincinnati, OH, 45229, USA.; Division of Developmental Biology, Cincinnati Children's Hospital Medical Center, Department of Pediatrics, University of Cincinnati, Cincinnati, OH, 45229, USA.. Electronic address: rolf.stottmann@cchmc.org.
Cincinnati Children's Hospital Medical Center · USUniversity of Miami · USBabraham Institute · GBMarche Polytechnic University · ITUniversity of Cambridge · GBYantai University · CN
Funding
Medical Scientist Training ProgramT32GM063483 · NIGMS · UNIVERSITY OF CINCINNATI · PI KHURANA HERSHEY, GURJIT K. · 2002 to 2022
$6.7MForward Genetic Analysis of Congenital Defects in Cortical Circuits and StructureR01NS085023 · NINDS · CINCINNATI CHILDRENS HOSP MED CTR · PI STOTTMANN, ROLF W · 2014 to 2018
$2.3MEnhance Neuroprotection through post-transcriptional regulationsR56NS095893 · NINDS · UNIVERSITY OF MIAMI SCHOOL OF MEDICINE · PI ZHAI, RONG GRACE · 2017 to 2017
$384kMedical Research Council MR/N004582/1NIGMS NIH HHS T32 GM063483NINDS NIH HHS R01 NS085023NINDS NIH HHS R56 NS095893
Abstract
The three nicotinamide mononucleotide adenylyltransferase (NMNAT) family members synthesize the electron carrier nicotinamide adenine dinucleotide (NAD
Indexed as
AnimalsArthrogryposisFemaleFetusHumansMiceMutationNeurogenesisNicotinamide-Nucleotide AdenylyltransferaseStillbirthWallerian DegenerationNicotinamide-Nucleotide AdenylyltransferaseNMNAT2 protein, human
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.