Author

Carlo Alberto Angeletti

Marche Polytechnic UniversityORCID 0000-0002-7420-3201Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Signature Assays, Organisms & Methods

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Approach:experimental assay· 2 Organism:human· 2 Organism:mouse· 2 Research Focus:differential expression· 1 Research Focus:gene regulatory network inference· 1 Approach:statistical model· 1 Research Focus:variant calling· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Giuseppe OrsomandoiD· 3 shared Jonathan GilleyiD· 3 shared Michael P. ColemaniD· 3 shared Alexander J. WhitworthiD· 1 shared Alonso Barrantes‐FreeriD· 1 shared Álvaro Sánchez-MartíneziD· 1 shared Andrea LoretoiD· 1 shared Christine StadelmanniD· 1 shared

Activity by Year

2019-2019 · peak 3/yr

Co-Author Collaboration Network

10 top collaborators · 35 mutual co-author links

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3 shared papersNeuroscience

Giuseppe OrsomandoORCID

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3 papers

Recent·Most cited

NeuroscienceNeurobiology of DiseasePeer-reviewedNov 15, 2019

Mitochondrial impairment activates the Wallerian pathway through depletion of NMNAT2 leading to SARM1-dependent axon degeneration

Andrea Loreto, Ciaran Scott Hill, Victoria L. Hewitt…·Michael P. Coleman

This study shows mitochondrial impairment triggers Wallerian-like axon degeneration by depleting NMNAT2, activating SARM1, and replicating key steps of the Wallerian pathway in mice and flies.

130 citationstop 1%

mouseexperimental assay

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GeneticsExperimental NeurologyPeer-reviewedMay 25, 2019

Severe Biallelic Loss-of-function Mutations in Nicotinamide Mononucleotide Adenylyltransferase 2 (NMNAT2) in Two Fetuses with Fetal Akinesia Deformation Sequence

Marshall Lukacs, Jonathan Gilley, Yi Zhu…·Rolf W. Stottmann

The paper identifies biallelic NMNAT2 mutations in two fetuses with FADS, showing their role in axon survival and linking them to Wallerian degeneration.

61 citationstop 4%

humanmouse

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NeuroscienceExperimental NeurologyPeer-reviewedMay 24, 2019

Homozygous NMNAT2 mutation in sisters with polyneuropathy and erythromelalgia

Peter Huppke, Eike Wegener, Jonathan Gilley…·Michael P. Coleman

The paper identifies a homozygous NMNAT2 mutation causing polyneuropathy and erythromelalgia in two sisters, linking it to axon degeneration and supporting the role of the Wallerian pathway in human disease.

67 citationstop 3%

human

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