Evidence map›Paper›PMID 30391163›Full record

ArticleMolecular genetics and metabolism2019

Strong correlation of ferrochelatase enzymatic activity with Mitoferrin-1 mRNA in lymphoblasts of patients with protoporphyria.

John Phillips, Collin Farrell, Yongming Wang, Ashwani K Singal, Karl Anderson, Manisha Balwani, Montgomery Bissell, Herbert Bonkovsky, Toni Seay, Barry Paw and 2 more

Open access · greenAbstract read
In one paragraph

Article in Molecular genetics and metabolism, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.

0numbers the graph read from it
0cells of the map it votes in
5citing papers in PubMed
0.4field-weighted citation impact, top 39% 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

5 citing papers in PubMed, 9 citations in OpenAlex.

  1. Article
  2. Article
  3. Review
  4. Regulation of Heme Synthesis by Mitochondrial Homeostasis Proteins.Frontiers in cell and developmental biology · 2022
    Review
  5. Review
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

12 authors at 7 institutions in 1 country.

John PhillipsDepartment of Medicine, Division of Hematology, University of Utah School of Medicine, Salt Lake City, UT, United States. Electronic address: John.phillips@hsc.utah.edu.
Collin FarrellDepartment of Medicine, Division of Hematology, University of Utah School of Medicine, Salt Lake City, UT, United States.
Yongming WangDepartment of Medicine, Division of Gastroenterology and Hepatology, University of Alabama at Birmingham, Birmingham, AL, United States.
Ashwani K SingalDepartment of Medicine, Division of Gastroenterology and Hepatology, University of Alabama at Birmingham, Birmingham, AL, United States.
Karl AndersonDepartment of Medicine, Division of Gastroenterology, University of Texas Medical Branch, Galveston, TX, United States.
Manisha BalwaniDepartment of Genetics, Icahn school of Medicine, New York, NY, United States.
Montgomery BissellDepartment of Medicine, Division of Gastroenterology, University of California in San Francisco, San Francisco, CA, United States.
Herbert BonkovskyDepartment of Medicine, Division of Gastroenterology, Wake Forest University, United States.
Toni SeayDepartment of Medicine, Division of Gastroenterology and Hepatology, University of Alabama at Birmingham, Birmingham, AL, United States.
Barry PawDepartment of Medicine, Hematology, Brigham and Women's Hospital, Boston, MA, United States.
Robert DesnickDepartment of Genetics, Icahn school of Medicine, New York, NY, United States.
Joseph BloomerDepartment of Medicine, Division of Gastroenterology and Hepatology, University of Alabama at Birmingham, Birmingham, AL, United States.
University of Alabama at Birmingham · USIcahn School of Medicine at Mount Sinai · USUniversity of Utah · USBrigham and Women's Hospital · USThe University of Texas Medical Branch at Galveston · USUniversity of California, San Francisco · USWake Forest University · US

Funding

The Impact of COVID-19 on People Living with Rare Diseases and Their FamiliesU2CTR002818 · NCATS · CINCINNATI CHILDRENS HOSP MED CTR · PI Maurizio Macaluso, Michael Wagner · 2019 to 2026
$51.2M
Porphyrias Consortium: SupplementU54DK083909 · NIDDK · ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI · PI BALWANI, MANISHA, DESNICK, ROBERT J · 2009 to 2023
$18.5M
Proteomics CoreU54DK110858 · NIDDK · UTAH STATE HIGHER EDUCATION SYSTEM--UNIVERSITY OF UTAH · PI Anna E Beaudin, JAMES Eric COX · 2016 to 2026
$8.6M
PORPHYRIN BIOSYNTHESIS IN NORMAL AND DISEASE STATESR01DK020503 · NIDDK · UNIVERSITY OF UTAH · PI PARKER, CHARLES J, PHILLIPS, JOHN DEARBORN · 1986 to 2012
$3.3M
Clinical and Molecular Studies of the Erythropoietic Protoporphyria PhenotypeK23DK095946 · NIDDK · ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI · PI BALWANI, MANISHA · 2013 to 2017
$906k
NCATS NIH HHS U2C TR002818NIDDK NIH HHS K23 DK095946NIDDK NIH HHS R01 DK020503NIDDK NIH HHS U54 DK083909NIDDK NIH HHS U54 DK110858
6 · The paper itself

Abstract

Accumulation of protoporphyrin IX (PPIX) and Zn-PPIX, are the clinical hallmarks of protoporphyria. Phenotypic expression of protoporphyria is due to decreased activity of ferrochelatase (FECH) or to increased activity of aminolevulinic acid synthase (ALAS) in red blood cells. Other genetic defects have been shown to contribute to disease severity including loss of function mutations in the mitochondrial AAA-ATPase, CLPX and mutations in the Iron-responsive element binding protein 2 (IRP2), in mice. It is clear that multiple paths lead to a common phenotype of excess plasma PPIX that causes a phototoxic reaction on sun exposed areas. In this study we examined the association between mitochondrial iron acquisition and utilization with activity of FECH. Our data show that there is a metabolic link between the activity FECH and levels of MFRN1 mRNA. We examined the correlation between FECH activity and MFRN1 mRNA in cell lines established from patients with the classical protoporphyria, porphyria due to defects in ALAS2 mutations. Our data confirm MFRN1 message levels positively correlated with FECH enzymatic activity in all cell types.

Indexed as

5-Aminolevulinate SynthetaseCation Transport ProteinsCell Line, TransformedFerrochelataseHumansLymphocytesMitochondriaMitochondrial ProteinsPhenotypeProtoporphyria, ErythropoieticProtoporphyrinsRNA, Messenger5-Aminolevulinate SynthetaseALAS2 protein, humanCation Transport ProteinsFerrochelataseMitochondrial Proteinsprotoporphyrin IXProtoporphyrinsRNA, MessengerSlc25a37 protein, human

Identifiers

PMID30391163
PMCPMC7328821
OpenAlexW2897462486

What OpenQuestion holds

Textmetadata
LicenceTDM
Read underepoch 390

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.