Severe biallelic loss-of-function mutations in nicotinamide mononucleotide adenylyltransferase 2 (NMNAT2) in two fetuses with fetal akinesia deformation sequence.

Animals Arthrogryposis / genetics Fetus Humans Mice Mutation Neurogenesis / genetics Nicotinamide-Nucleotide Adenylyltransferase / genetics Stillbirth Wallerian Degeneration / genetics

Journal

Experimental neurology
ISSN: 1090-2430
Titre abrégé: Exp Neurol
Pays: United States
ID NLM: 0370712

Informations de publication

Date de publication:
10 2019
Historique:
received: 25 04 2019
revised: 14 05 2019
accepted: 17 05 2019
pubmed: 29 5 2019
medline: 25 2 2020
entrez: 29 5 2019
Statut: ppublish

Résumé

The three nicotinamide mononucleotide adenylyltransferase (NMNAT) family members synthesize the electron carrier nicotinamide adenine dinucleotide (NAD

Identifiants

DOI: 10.1016/j.expneurol.2019.112961 PMID: 31136762 PMC: PMC6708453
pubmed: 31136762
pii: S0014-4886(19)30107-4
doi: 10.1016/j.expneurol.2019.112961
pmc: PMC6708453
mid: NIHMS1532451
pii:
doi:

Substances chimiques

NMNAT2 protein, human EC 2.7.7.1
Nicotinamide-Nucleotide Adenylyltransferase EC 2.7.7.1

Types de publication

Case Reports Journal Article Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't

Langues

eng

Sous-ensembles de citation

IM

Pagination

112961

Subventions

Organisme : Medical Research Council
ID : MR/N004582/1
Pays : United Kingdom
Organisme : NINDS NIH HHS
ID : R01 NS085023
Pays : United States
Organisme : NINDS NIH HHS
ID : R56 NS095893
Pays : United States
Organisme : NIGMS NIH HHS
ID : T32 GM063483
Pays : United States

Informations de copyright

Copyright © 2019 Elsevier Inc. All rights reserved.

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Auteurs

Marshall Lukacs (M)

Division 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 Gilley (J)

John 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 Zhu (Y)

Department of Molecular and Cellular Pharmacology, University of Miami Miller School of Medicine, Miami, FL, 33136, USA. Electronic address: y.zhu17@med.miami.edu.

Giuseppe Orsomando (G)

Department of Clinical Sciences (DISCO), Section of Biochemistry, Polytechnic University of Marche, Via Ranieri 67, 60131, Ancona, Italy. Electronic address: g.orsomando@univpm.it.

Carlo Angeletti (C)

Department 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 Liu (J)

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: jxl2095@miami.edu.

Xiuna Yang (X)

John van Geest Centre for Brain Repair, University of Cambridge, ED Adrian Building, Forvie Site, Robinson Way, Cambridge, CB2 0PY, UK.

Joun Park (J)

Department of Molecular and Cellular Pharmacology, University of Miami Miller School of Medicine, Miami, FL, 33136, USA. Electronic address: jpark@med.miami.edu.

Robert J Hopkin (RJ)

Division 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 Coleman (MP)

John 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 Zhai (RG)

Department 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 Stottmann (RW)

Division 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.

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Classifications MeSH

questionsmedicales.fr › Eucaryotes › Animaux › Severe biallelic loss-of-function mutations in...
questionsmedicales.fr › Malformations et maladies congénitales, héréditaires et néonatales › Malformations › Malformations de l'appareil locomoteur › Arthrogrypose › Severe biallelic loss-of-function mutations in...
questionsmedicales.fr › Structures de l'embryon › Foetus › Severe biallelic loss-of-function mutations in...
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Severe biallelic loss-of-function mutations in...
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Rodentia › Muridae › Murinae › Souris › Severe biallelic loss-of-function mutations in...
questionsmedicales.fr › Phénomènes génétiques › Variation génétique › Mutation › Severe biallelic loss-of-function mutations in...
questionsmedicales.fr › Phénomènes physiologiques de l'appareil locomoteur et du système nerveux › Phénomènes physiologiques du système nerveux › Neurogenèse › Severe biallelic loss-of-function mutations in...
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Protéines nucléaires › Protéines liant le poly-adp-ribose › Nicotinamide nucleotide adenylyltransferase › Severe biallelic loss-of-function mutations in...
questionsmedicales.fr › Phénomènes physiologiques des appareils urinaire et reproducteur › Phénomènes physiologiques de la reproduction › Reproduction › Grossesse › Issue de la grossesse › Mortinatalité › Severe biallelic loss-of-function mutations in...
questionsmedicales.fr › États, signes et symptômes pathologiques › Processus pathologiques › Dégénérescence nerveuse › Dégénérescence wallerienne › Severe biallelic loss-of-function mutations in...