Evidence map›Paper›PMID 39056013›Full record

ArticleJournal of biotechnology and biomedicine2024

Pathophysiology of X-Linked Adrenoleukodystrophy: Updates on Molecular Mechanisms.

Parveen Parasar, Navtej Kaur, Jaspreet Singh

Abstract read
In one paragraph

Article in Journal of biotechnology and biomedicine, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.

0numbers the graph read from it
0cells of the map it votes in
6citing 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

6 citing papers in PubMed.

  1. Article
  2. Review
  3. Article
  4. Review
  5. Review
  6. 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

3 authors.

Parveen ParasarDepartment of Neurology, Henry Ford Health, Detroit, MI 48202, USA.
Navtej KaurDepartment of Neurology, Henry Ford Health, Detroit, MI 48202, USA.
Jaspreet SinghDepartment of Neurology, Henry Ford Health, Detroit, MI 48202, USA.

Funding

Use of IPSC to define role of astrocytes in specifying risk for onset of cerebral adrenoleukodystrophyR01NS114245 · NINDS · HENRY FORD HEALTH SYSTEM · PI SINGH, JASPREET · 2021 to 2024
$1.4M
Deciphering neuroinflammation-specific regulatory RNA and metabolic networks in human iPSC-derived astrocytes in cerebral adrenoleukodystrophyR21NS114775 · NINDS · HENRY FORD HEALTH SYSTEM · PI SINGH, JASPREET · 2020 to 2020
$414k
Use of IPSC to define role of astrocytes in specifying risk for onset of cerebral adrenoleukodystrophyR56NS114245 · NINDS · HENRY FORD HEALTH SYSTEM · PI SINGH, JASPREET · 2020 to 2020
$376k
NINDS NIH HHS R01 NS114245NINDS NIH HHS R21 NS114775NINDS NIH HHS R56 NS114245
6 · The paper itself

Abstract

X-ALD, an inherited monogenic metabolic disorder affecting the CNS and adrenal white matter, is caused by mutations in ABCD1 gene leading to defective fatty acid oxidation in the peroxisomes. This results in accumulation of very long-chain fatty acids, VLCFA, into brain, spinal cord, and body fluids. A single ABCD1mutation does not clearly explain the severity and diverse clinical spectrum of X-ALD phenotypes which suggests that not only genetic but also other modifier genes, epigenetic factors, and environmental factors play a role and contribute to neuroinflammation, mitochondrial dysfunctions, oxidative stress, and metabolic defects seen in phenotypes of ALD. In this review we discuss genotype and phenotype correlation and clinical spectra of X-ALD, previous and recent modifier genetic factors of X-ALD, including novel role of microRNAs (miRNAs) in pathology and as biomarkers. We also discuss the mechanistic interplay of miRNAs and metabolic pathways and potential of targeting miRNAs for X-ALD.

Indexed as

BiomarkersEtiologyMetabolicmiRNAX-ALD

Identifiers

PMID39056013
PMCPMC11271253

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Registered trials

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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.