Evidence map›Paper›PMID 35159355›Full record

ArticleCells2022

Peripheral Inflammatory Cytokine Signature Mirrors Motor Deficits in Mucolipidosis IV.

Albert L Misko, Laura D Weinstock, Sitara B Sankar, Amanda Furness, Yulia Grishchuk, Levi B Wood

Open access · goldAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Cells, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
0.6field-weighted citation impact, top 36% 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.

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

2 citing papers in PubMed, 5 citations in OpenAlex.

  1. Exploring human plasma proteomic variations in mucolipidosis type IV.Molecular therapy. Methods & clinical development · 2025
    Article
  2. 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

6 authors at 2 institutions in 1 country.

Albert L MiskoCenter for Genomic Medicine and Department of Neurology, Massachusetts General Hospital Research Institute, Harvard Medical School, 185 Cambridge St., Boston, MA 02114, USA.ORCID 0000-0001-5575-6567
Laura D WeinstockWallace H. Coulter Department of Biomedical Engineering at Georgia Tech and Emory, Georgia Institute of Technology, 315 Ferst Dr., Atlanta, GA 30332, USA.
Sitara B SankarWallace H. Coulter Department of Biomedical Engineering at Georgia Tech and Emory, Georgia Institute of Technology, 315 Ferst Dr., Atlanta, GA 30332, USA.
Amanda FurnessCenter for Genomic Medicine and Department of Neurology, Massachusetts General Hospital Research Institute, Harvard Medical School, 185 Cambridge St., Boston, MA 02114, USA.
Yulia GrishchukCenter for Genomic Medicine and Department of Neurology, Massachusetts General Hospital Research Institute, Harvard Medical School, 185 Cambridge St., Boston, MA 02114, USA.
Levi B WoodWallace H. Coulter Department of Biomedical Engineering at Georgia Tech and Emory, Georgia Institute of Technology, 315 Ferst Dr., Atlanta, GA 30332, USA.ORCID 0000-0002-4248-0888
Georgia Institute of Technology · USHarvard University · US

Funding

Child Neurologist Career Development Program (CNCDP)K12NS098482 · NINDS · HUGO W. MOSER RES INST KENNEDY KRIEGER · PI SCHLAGGAR, BRADLEY L · 2016 to 2025
$26.2M
Research Training Program Plan on Cell and Tissue Engineering (CTEng)T32GM008433 · NIGMS · GEORGIA INSTITUTE OF TECHNOLOGY · PI GARCIA, ANDRES J · 1991 to 2021
$7.1M
NIGMS NIH HHS T32 GM008433NIH HHS 01K12NS098482Upenn Orphan Disease Million Dollar Bike Run 2017D007934
6 · The paper itself

Abstract

backgroundMucolipidosis IV (MLIV) is an autosomal recessive pediatric disease that leads to motor and cognitive deficits and loss of vision. It is caused by a loss of function of the lysosomal channel transient receptor potential mucolipin-1 and is associated with an early pro-inflammatory brain phenotype, including increased cytokine expression. The goal of the current study was to determine whether blood cytokines are linked to motor dysfunction in patients with MLIV and reflect brain inflammatory changes observed in an MLIV mouse model.

methodsTo determine the relationship between blood cytokines and motor function, we collected plasma from MLIV patients and parental controls concomitantly with assessment of motor function using the Brief Assessment of Motor Function and Modified Ashworth scales. We then compared these profiles with cytokine profiles in brain and plasma samples collected from the

resultsWe found that MLIV patients had prominently increased cytokine levels compared to familial controls and identified profiles of cytokines correlated with motor dysfunction, including IFN-γ, IFN-α2, and IP-10. We found that IP-10 was a key differentiating factor separating MLIV cases from controls based on data from human plasma, mouse plasma, and mouse brain.

conclusionsOur data indicate that MLIV is characterized by increased blood cytokines, which are strongly related to underlying neurological and functional deficits in MLIV patients. Moreover, our data identify the interferon pro-inflammatory axis in both human and mouse signatures, suggesting that interferon signaling is an important aspect of MLIV pathology.

Indexed as

MucolipidosesTransient Receptor Potential ChannelsAnimalsChemokine CXCL10CytokinesDisease Models, AnimalHumansInterferonsMiceChemokine CXCL10CytokinesInterferonsTransient Receptor Potential Channelsbiomarkersbloodcytokineslysosomal storage disordermotor functionmucolipidosisplasma

Identifiers

PMID35159355
PMCPMC8834097
OpenAlexW4225474855

What OpenQuestion holds

Textmetadata
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.