Evidence map›Paper›PMID 29643404›Full record

ArticleScientific reports2018

Canine NAPEPLD-associated models of human myelin disorders.

K M Minor, A Letko, D Becker, M Drögemüller, P J J Mandigers, S R Bellekom, P A J Leegwater, Q E M Stassen, K Putschbach, A Fischer and 19 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Scientific reports, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.

0numbers the graph read from it
0cells of the map it votes in
14citing papers in PubMed
–field-weighted citation impact
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.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

14 citing papers in PubMed.

  1. Review
  2. Article
  3. Article
  4. Review
  5. Article
  6. Article
  7. A hypomyelinating leukodystrophy in German Shepherd dogs.Journal of veterinary internal medicine · 2021
    Article
  8. Article
  9. AGenes · 2020
    Article
  10. Article
  11. Article
  12. Article
  13. Article
  14. Article
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

29 authors.

K M MinorDepartment of Veterinary and Biomedical Sciences, University of Minnesota, Saint Paul, MN, 55108, USA.
A LetkoInstitute of Genetics, University of Bern, Bern, 3001, Switzerland.
D BeckerInstitute of Genetics, University of Bern, Bern, 3001, Switzerland.
M DrögemüllerInstitute of Genetics, University of Bern, Bern, 3001, Switzerland.
P J J MandigersDepartment of Clinical Sciences of Companion Animals, Utrecht University, Utrecht, 3508, CM, The Netherlands.ORCID 0000-0003-2547-6673
S R BellekomDepartment of Clinical Sciences of Companion Animals, Utrecht University, Utrecht, 3508, CM, The Netherlands.
P A J LeegwaterDepartment of Clinical Sciences of Companion Animals, Utrecht University, Utrecht, 3508, CM, The Netherlands.
Q E M StassenDepartment of Clinical Sciences of Companion Animals, Utrecht University, Utrecht, 3508, CM, The Netherlands.
K PutschbachCentre for Clinical Veterinary Medicine, Ludwig-Maximilians-University, Munich, 80539, Germany.
A FischerCentre for Clinical Veterinary Medicine, Ludwig-Maximilians-University, Munich, 80539, Germany.
T FlegelDepartment of Small Animal Medicine, University of Leipzig, Leipzig, 04103, Germany.
K MatiasekCentre for Clinical Veterinary Medicine, Ludwig-Maximilians-University, Munich, 80539, Germany.
K J EkenstedtDepartment of Basic Medical Sciences, Purdue University, West Lafayette, IN, 47907, USA.
E FurrowDepartment of Veterinary and Biomedical Sciences, University of Minnesota, Saint Paul, MN, 55108, USA.
E E PattersonDepartment of Veterinary and Biomedical Sciences, University of Minnesota, Saint Paul, MN, 55108, USA.
S R PlattSmall Animal Medicine and Surgery, University of Georgia, Athens, GA, 30602, USA.
P A KellyVeterinary Sciences Centre, University College Dublin, Dublin, D04 V1W8, Ireland.
J P CassidyVeterinary Sciences Centre, University College Dublin, Dublin, D04 V1W8, Ireland.
G D SheltonDepartment of Pathology, University of California, La Jolla, CA, 92093, USA.
K LucotDepartment of Population Health and Reproduction, University of California-Davis, Davis, CA, 95616, USA.
D L BannaschDepartment of Population Health and Reproduction, University of California-Davis, Davis, CA, 95616, USA.
H MartineauPathobiology and Population Sciences, The Royal Veterinary College, North Mymms, AL9 7TA, UK.
C F MuirPathobiology and Population Sciences, The Royal Veterinary College, North Mymms, AL9 7TA, UK.
S L PriestnallPathobiology and Population Sciences, The Royal Veterinary College, North Mymms, AL9 7TA, UK.
D HenkeDivision of Clinical Neurology, University of Bern, Bern, 3001, Switzerland.
A OevermannDivision of Neurological Sciences, University of Bern, Bern, 3001, Switzerland.
V JagannathanInstitute of Genetics, University of Bern, Bern, 3001, Switzerland.
J R MickelsonDepartment of Veterinary and Biomedical Sciences, University of Minnesota, Saint Paul, MN, 55108, USA.
C DrögemüllerInstitute of Genetics, University of Bern, Bern, 3001, Switzerland. cord.droegemueller@vetsuisse.unibe.ch.ORCID 0000-0001-9773-522X

Funding

The role of zinc transporters and dietary zinc in calcium oxalate urolithiasisK01OD019912 · OD · UNIVERSITY OF MINNESOTA · PI FURROW, EVA · 2015 to 2021
$760k
NIH HHS K01 OD019912
6 · The paper itself

Abstract

Canine leukoencephalomyelopathy (LEMP) is a juvenile-onset neurodegenerative disorder of the CNS white matter currently described in Rottweiler and Leonberger dogs. Genome-wide association study (GWAS) allowed us to map LEMP in a Leonberger cohort to dog chromosome 18. Subsequent whole genome re-sequencing of a Leonberger case enabled the identification of a single private homozygous non-synonymous missense variant located in the highly conserved metallo-beta-lactamase domain of the N-acyl phosphatidylethanolamine phospholipase D (NAPEPLD) gene, encoding an enzyme of the endocannabinoid system. We then sequenced this gene in LEMP-affected Rottweilers and identified a different frameshift variant, which is predicted to replace the C-terminal metallo-beta-lactamase domain of the wild type protein. Haplotype analysis of SNP array genotypes revealed that the frameshift variant was present in diverse haplotypes in Rottweilers, and also in Great Danes, indicating an old origin of this second NAPEPLD variant. The identification of different NAPEPLD variants in dog breeds affected by leukoencephalopathies with heterogeneous pathological features, implicates the NAPEPLD enzyme as important in myelin homeostasis, and suggests a novel candidate gene for myelination disorders in people.

Indexed as

AnimalsDemyelinating DiseasesDisease Models, AnimalDog DiseasesDogsGenome-Wide Association StudyHaplotypesHumansLeukoencephalopathiesMutation, MissenseMyelin SheathPhospholipase DPolymorphism, Single NucleotideWhole Genome SequencingPhospholipase D

Identifiers

PMID29643404
PMCPMC5895582

What OpenQuestion holds

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LicenceCC BY
Read underepoch 390

Registered trials

None linked

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.