Evidence map›Paper›PMID 28526555›Full record

ArticleCell stem cell2017

Modeling Psychomotor Retardation using iPSCs from MCT8-Deficient Patients Indicates a Prominent Role for the Blood-Brain Barrier.

Gad D Vatine, Abraham Al-Ahmad, Bianca K Barriga, Soshana Svendsen, Ariel Salim, Leslie Garcia, Veronica J Garcia, Ritchie Ho, Nur Yucer, Tongcheng Qian and 10 more

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

Article in Cell stem cell, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 146 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
146citing papers in PubMed, 1 pooled it
20.7field-weighted citation impact, top 1% 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

146 citing papers in PubMed, 1 synthesis or guideline pooled it, 229 citations in OpenAlex.

  1. Role of lipoic acid in multiple sclerosis.CNS neuroscience & therapeutics · 2022
    Pooled it
  2. Article
  3. Article
  4. Article
  5. Journal of cerebral blood flow and metabolism : official journal of the International Society of Cerebral Blood Flow and Metabolism · 2026
    Review
  6. Review
  7. Article
  8. Article
  9. Article
  10. Article
  11. Article
  12. Development of the blood-brain barrier.Development (Cambridge, England) · 2026
    Review
  13. Article
  14. MCT8 Deficiency in Females.The Journal of clinical endocrinology and metabolism · 2025
    Article
  15. Article
  16. Article
  17. Review
  18. Article
  19. Article
  20. Review

86 more citing papers are in PubMed but not listed here.

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

20 authors at 4 institutions in 1 country.

Gad D VatineThe Board of Governors Regenerative Medicine Institute and Department of Biomedical Sciences, Cedars-Sinai Medical Center, Los Angeles, CA 90048, USA.
Abraham Al-AhmadDepartment of Chemical and Biological Engineering, University of Wisconsin-Madison, Madison, WI 53706, USA; Department of Pharmaceutical Sciences, School of Pharmacy, Texas Tech University Health Sciences Center, Amarillo, TX 79106, USA.
Bianca K BarrigaThe Board of Governors Regenerative Medicine Institute and Department of Biomedical Sciences, Cedars-Sinai Medical Center, Los Angeles, CA 90048, USA.
Soshana SvendsenThe Board of Governors Regenerative Medicine Institute and Department of Biomedical Sciences, Cedars-Sinai Medical Center, Los Angeles, CA 90048, USA.
Ariel SalimThe Board of Governors Regenerative Medicine Institute and Department of Biomedical Sciences, Cedars-Sinai Medical Center, Los Angeles, CA 90048, USA.
Leslie GarciaThe Board of Governors Regenerative Medicine Institute and Department of Biomedical Sciences, Cedars-Sinai Medical Center, Los Angeles, CA 90048, USA.
Veronica J GarciaThe Board of Governors Regenerative Medicine Institute and Department of Biomedical Sciences, Cedars-Sinai Medical Center, Los Angeles, CA 90048, USA.
Ritchie HoThe Board of Governors Regenerative Medicine Institute and Department of Biomedical Sciences, Cedars-Sinai Medical Center, Los Angeles, CA 90048, USA.
Nur YucerThe Board of Governors Regenerative Medicine Institute and Department of Biomedical Sciences, Cedars-Sinai Medical Center, Los Angeles, CA 90048, USA.
Tongcheng QianDepartment of Chemical and Biological Engineering, University of Wisconsin-Madison, Madison, WI 53706, USA.
Ryan G LimDepartment of Biological Chemistry, University of California, Irvine (UCI), Irvine, CA 92697, USA; Institute for Memory Impairments and Neurological Disorders, University of California, Irvine (UCI), Irvine, CA 92697, USA.
Jie WuDepartment of Biological Chemistry, University of California, Irvine (UCI), Irvine, CA 92697, USA.
Leslie M ThompsonDepartment of Biological Chemistry, University of California, Irvine (UCI), Irvine, CA 92697, USA; Institute for Memory Impairments and Neurological Disorders, University of California, Irvine (UCI), Irvine, CA 92697, USA; Department of Neurobiology and Behavior, University of California, Irvine (UCI), Irvine, CA 92697, USA; Department of Psychiatry and Human Behavior, University of California, Irvine (UCI), Irvine, CA 92697, USA; Sue and Bill Gross Stem Cell Center, University of California, Irvine (UCI), Irvine, CA 92697, USA.
Weston R SpiviaAdvanced Clinical Biosystems Research Institute, Heart Institute, Cedars-Sinai Medical Center, Los Angeles, CA 90048, USA.
Zhaohui ChenAdvanced Clinical Biosystems Research Institute, Heart Institute, Cedars-Sinai Medical Center, Los Angeles, CA 90048, USA.
Jennifer Van EykAdvanced Clinical Biosystems Research Institute, Heart Institute, Cedars-Sinai Medical Center, Los Angeles, CA 90048, USA.
Sean P PalecekDepartment of Chemical and Biological Engineering, University of Wisconsin-Madison, Madison, WI 53706, USA.
Samuel RefetoffDepartment of Medicine, Pediatrics and Committee on Genetics, The University of Chicago, Chicago, IL 60637, USA.
Eric V ShustaDepartment of Chemical and Biological Engineering, University of Wisconsin-Madison, Madison, WI 53706, USA. Electronic address: eshusta@wisc.edu.
Clive N SvendsenThe Board of Governors Regenerative Medicine Institute and Department of Biomedical Sciences, Cedars-Sinai Medical Center, Los Angeles, CA 90048, USA. Electronic address: clive.svendsen@cshs.org.
Cedars-Sinai Medical Center · USUniversity of Wisconsin–Madison · USUniversity of California, Irvine · USUniversity of Chicago · US

Funding

THYROID PHYSIOLOGY STUDIES OF INHERITED DISORDERSR01DK015070 · NIDDK · UNIVERSITY OF CHICAGO · PI ANTONIO C BIANCO, Alexandra Mihaela Dumitrescu · 1986 to 2026
$8.1M
THYROID PHYSIOLOGY STUDIES OF INHERITED DISORDERSR37DK015070 · NIDDK · UNIVERSITY OF CHICAGO · PI REFETOFF, SAMUEL · 1989 to 2015
$5.6M
RXRalpha and PPARdelta Signaling as Novel Regulators of the Blood-Brain BarrierR01NS083688 · NINDS · UNIVERSITY OF WISCONSIN-MADISON · PI SHUSTA, ERIC V · 2013 to 2017
$1.9M
Human Blood-Brain Barrier Model for CNS Drug TranslationRC4AA020476 · NIAAA · UNIVERSITY OF WISCONSIN-MADISON · PI SHUSTA, ERIC V · 2010 to 2010
$1.8M
Shear regulated differentiation of hPSCs to brain endothelial cellsR21NS085351 · NINDS · UNIVERSITY OF WISCONSIN-MADISON · PI PALECEK, SEAN P · 2013 to 2014
$407k
NIAAA NIH HHS RC4 AA020476NIDDK NIH HHS R01 DK015070NIDDK NIH HHS R37 DK015070NINDS NIH HHS R01 NS083688NINDS NIH HHS R21 NS085351
6 · The paper itself

Abstract

Inactivating mutations in the thyroid hormone (TH) transporter Monocarboxylate transporter 8 (MCT8) cause severe psychomotor retardation in children. Animal models do not reflect the biology of the human disease. Using patient-specific induced pluripotent stem cells (iPSCs), we generated MCT8-deficient neural cells that showed normal TH-dependent neuronal properties and maturation. However, the blood-brain barrier (BBB) controls TH entry into the brain, and reduced TH availability to neural cells could instead underlie the diseased phenotype. To test potential BBB involvement, we generated an iPSC-based BBB model of MCT8 deficiency, and we found that MCT8 was necessary for polarized influx of the active form of TH across the BBB. We also found that a candidate drug did not appreciably cross the mutant BBB. Our results therefore clarify the underlying physiological basis of this disorder, and they suggest that circumventing the diseased BBB to deliver active TH to the brain could be a viable therapeutic strategy.

Indexed as

Blood-Brain BarrierCell LineFemaleHumansInduced Pluripotent Stem CellsMaleMonocarboxylic Acid TransportersNeuronsPsychomotor DisordersSymportersMonocarboxylic Acid TransportersSLC16A2 protein, humanSymportersblood brain barrierdisease modelinduced pluripotent stem cellsiPSCMCT8monocarboxyl transporter 8neuronal maturationT3thyroidthyroid hormone

Identifiers

PMID28526555
PMCPMC6659720
OpenAlexW2615774542

What OpenQuestion holds

Textmetadata
LicenceTDM
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.