Evidence map›Paper›PMID 27982123›Full record

ArticleScientific reports2016

Unraveling gene expression profiles in peripheral motor nerve from amyotrophic lateral sclerosis patients: insights into pathogenesis.

Nilo Riva, Ferdinando Clarelli, Teuta Domi, Federica Cerri, Francesca Gallia, Amelia Trimarco, Paola Brambilla, Christian Lunetta, Alberto Lazzerini, Giuseppe Lauria and 7 more

Registry-linked trialOpen access · goldAbstract read
In one paragraph

Article in Scientific reports, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT07268833 (Translating Single-cell Vulnerability Into Novel ALS Biomarkers and Therapeutic Targets), which is not on this map. Cited by 18 papers.

0numbers the graph read from it
0cells of the map it votes in
18citing papers in PubMed
0.7field-weighted citation impact, top 26% of its field
1 · What the graph read from it

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.

2 · The registry

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.

NCT07268833 recruitingnot on this mapstarted 2024, after this paper: background citation

Translating Single-cell Vulnerability Into Novel ALS Biomarkers and Therapeutic Targets: Towards a Liquid Nerve Biopsy

TypeobservationalSponsorFondazione I.R.C.C.S. Istituto Neurologico Carlo BestaRan2024 to 2027Enrolled400ConditionsAmyotrophic Lateral Sclerosis (ALS), Peripheral Neuropathies
3 · Its place in the literature

Who cites it

18 citing papers in PubMed, 27 citations in OpenAlex.

  1. Review
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  7. Downstream Effects of Mutations inInternational journal of molecular sciences · 2022
    Article
  8. Review
  9. Boosting the peripheral immune response in the skeletal muscles improved motor function in ALS transgenic mice.Molecular therapy : the journal of the American Society of Gene Therapy · 2022
    Article
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  12. Review
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4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

17 authors at 5 institutions in 1 country.

Nilo RivaExperimental Neuropathology Unit, Institute of Experimental Neurology, Division of Neuroscience, San Raffaele Scientific Institute, Milan, Italy.
Ferdinando ClarelliLaboratory of Genetics of Complex Neurological Disorders, Institute of Experimental Neurology, Division of Neuroscience, San Raffaele Scientific Institute, Milan, Italy.
Teuta DomiExperimental Neuropathology Unit, Institute of Experimental Neurology, Division of Neuroscience, San Raffaele Scientific Institute, Milan, Italy.
Federica CerriExperimental Neuropathology Unit, Institute of Experimental Neurology, Division of Neuroscience, San Raffaele Scientific Institute, Milan, Italy.
Francesca Gallia2Neurology, IRCCS Istituto Clinico Humanitas, Milano University, Milan, Italy.
Amelia TrimarcoAxo-glia interactions Unit, Institute of Experimental Neurology, Division of Neuroscience, San Raffaele Scientific Institute, Milan, Italy.
Paola BrambillaLaboratory of Genetics of Complex Neurological Disorders, Institute of Experimental Neurology, Division of Neuroscience, San Raffaele Scientific Institute, Milan, Italy.
Christian LunettaNEuroMuscular Omnicentre (NEMO), Niguarda Ca Granda Hospital, Milan, Italy.
Alberto LazzeriniHand Surgery and Microsurgery Unit, IRCCS Humanitas Clinical Institute, Milan, Italy.
Giuseppe Lauria3rd Neurology Unit, IRCCS Foundation "Carlo Besta" Neurological Institute, Milan, Italy.
Carla TaveggiaAxo-glia interactions Unit, Institute of Experimental Neurology, Division of Neuroscience, San Raffaele Scientific Institute, Milan, Italy.
Sandro IannacconeDepartment of Clinical Neurosciences, San Raffaele Scientific Institute, Milan, Italy.
Eduardo Nobile-Orazio2Neurology, IRCCS Istituto Clinico Humanitas, Milano University, Milan, Italy.
Giancarlo ComiExperimental Neuropathology Unit, Institute of Experimental Neurology, Division of Neuroscience, San Raffaele Scientific Institute, Milan, Italy.
Maurizio D'AntonioDivision of Genetics and Cell Biology, San Raffaele Scientific Institute, Milan, Italy.
Filippo Martinelli-BoneschiLaboratory of Genetics of Complex Neurological Disorders, Institute of Experimental Neurology, Division of Neuroscience, San Raffaele Scientific Institute, Milan, Italy.
Angelo QuattriniExperimental Neuropathology Unit, Institute of Experimental Neurology, Division of Neuroscience, San Raffaele Scientific Institute, Milan, Italy.
San Raffaele University of Rome · ITHumanitas University · ITAzienda Socio Sanitaria Territoriale Grande Ospedale Metropolitano Niguarda · ITFondazione IRCCS Istituto Neurologico Carlo Besta · ITVita-Salute San Raffaele University · IT

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

The aim of the present study is to investigate the molecular pathways underlying amyotrophic lateral sclerosis (ALS) pathogenesis within the peripheral nervous system. We analyzed gene expression changes in human motor nerve diagnostic biopsies obtained from eight ALS patients and seven patients affected by motor neuropathy as controls. An integrated transcriptomics and system biology approach was employed. We identified alterations in the expression of 815 genes, with 529 up-regulated and 286 down-regulated in ALS patients. Up-regulated genes clustered around biological process involving RNA processing and protein metabolisms. We observed a significant enrichment of up-regulated small nucleolar RNA transcripts (p = 2.68*10-11) and genes related to endoplasmic reticulum unfolded protein response and chaperone activity. We found a significant down-regulation in ALS of genes related to the glutamate metabolism. Interestingly, a network analysis highlighted HDAC2, belonging to the histone deacetylase family, as the most interacting node. While so far gene expression studies in human ALS have been performed in postmortem tissues, here specimens were obtained from biopsy at an early phase of the disease, making these results new in the field of ALS research and therefore appealing for gene discovery studies.

Indexed as

TranscriptomeAdultAgedAmyotrophic Lateral SclerosisBiopsyFemaleHumansMaleMiddle AgedMotor NeuronsPeripheral NervesSystems Biology

Identifiers

PMID27982123
PMCPMC5159906
OpenAlexW2561760365

What OpenQuestion holds

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Registered trials

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.