Evidence map›Paper›PMID 35026043›Full record

ArticleHuman mutation2022

Expanding the phenotypic and molecular spectrum of NFS1-related disorders that cause functional deficiencies in mitochondrial and cytosolic iron-sulfur cluster containing enzymes.

Jennifer H Yang, Marisa W Friederich, Katarzyna A Ellsworth, Aliya Frederick, Emily Foreman, Denise Malicki, David Dimmock, Jerica Lenberg, Chitra Prasad, Andrea C Yu and 14 more

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

Article in Human mutation, 2022. 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
0.3field-weighted citation impact, top 57% 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

6 citing papers in PubMed, 6 citations in OpenAlex.

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

24 authors at 9 institutions in 2 countries.

Jennifer H YangDepartment of Neurosciences, University of California San Diego, San Diego, California, USA.ORCID 0000-0001-5438-7210
Marisa W FriederichDepartment of Pediatrics, Section of Clinical Genetics and Metabolism, University of Colorado, Aurora, Colorado, USA.
Katarzyna A EllsworthRady Children's Hospital San Diego, Rady Children's Institute for Genomic Medicine, San Diego, California, USA.
Aliya FrederickDepartment of Neurosciences, University of California San Diego, San Diego, California, USA.
Emily ForemanDivision of Pediatrics, University of California San Diego, San Diego, California, USA.
Denise MalickiDepartment of Pathology, University of California San Diego, San Diego, California, USA.
David DimmockRady Children's Hospital San Diego, Rady Children's Institute for Genomic Medicine, San Diego, California, USA.
Jerica LenbergRady Children's Hospital San Diego, Rady Children's Institute for Genomic Medicine, San Diego, California, USA.
Chitra PrasadDepartment of Pediatrics, Division of Medical Genetics, Schulich School of Medicine and Dentistry, Western University, London, Ontario, Canada.
Andrea C YuDepartment of Pediatrics, Division of Metabolics and Newborn Screening, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada.
C Anthony RuparDepartment of Pathology, London Health Science Centre, Ontario, London, Canada.
Robert A HegeleDepartment of Biochemistry, Schulich School of Medicine and Dentistry, Robarts Research Institute, Western University, London, Ontario, Canada.
Kandamurugu ManickamDivision of Genetics and Genomics, Nationwide Children's Hospital, Columbus, Ohio, USA.
Daniel C KoboldtSteve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio, USA.
Erin CristSteve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio, USA.
Samantha S ChoiSteve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio, USA.
Sali M K FarhanDepartments of Neurology and Neurosurgery, and Human Genetics, The Montreal Neurological Institute and Hospital, McGill University, Montréal, Quebec, Canada.
Helen HarveyDivision of Pediatrics, University of California San Diego, San Diego, California, USA.
Shifteh SattarDepartment of Neurosciences, University of California San Diego, San Diego, California, USA.
Natalya KarpDepartment of Pediatrics, Division of Medical Genetics, Schulich School of Medicine and Dentistry, Western University, London, Ontario, Canada.
Terence WongRady Children's Hospital San Diego, Rady Children's Institute for Genomic Medicine, San Diego, California, USA.
Richard HaasDepartment of Neurosciences, University of California San Diego, San Diego, California, USA.
Johan L K Van HoveDepartment of Pediatrics, Section of Clinical Genetics and Metabolism, University of Colorado, Aurora, Colorado, USA.
Kristen WigbyRady Children's Hospital San Diego, Rady Children's Institute for Genomic Medicine, San Diego, California, USA.
Children’s Institute · USUniversity of California San Diego · USNationwide Children's Hospital · USWestern University · CAChildren's Hospital Colorado · USUniversity of San Diego · USChildren's Hospital of Eastern Ontario · CALondon Health Sciences Centre · CAMontreal Neurological Institute and Hospital · CA

Funding

The North American Mitochondrial Disease Consortium (NAMDC)U54NS078059 · NINDS · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI HIRANO, MICHIO · 2011 to 2023
$17.5M
UCSD Leading the Advancement of Underrepresented Neuroscientists for Change (LAUNCH) Faculty Development ProgramR25NS117367 · NINDS · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI Victoria B Risbrough, Joann Trejo · 2020 to 2026
$1.6M
NINDS NIH HHS R25 NS117367NINDS NIH HHS U54 NS078059
6 · The paper itself

Abstract

Iron-sulfur cluster proteins are involved in critical functions for gene expression regulation and mitochondrial bioenergetics including the oxidative phosphorylation system. The c.215G>A p.(Arg72Gln) variant in NFS1 has been previously reported to cause infantile mitochondrial complex II and III deficiency. We describe three additional unrelated patients with the same missense variant. Two infants with the same homozygous variant presented with hypotonia, weakness and lactic acidosis, and one patient with compound heterozygous p.(Arg72Gln) and p.(Arg412His) variants presented as a young adult with gastrointestinal symptoms and fatigue. Skeletal muscle biopsy from patients 1 and 3 showed abnormal mitochondrial morphology, and functional analyses demonstrated decreased activity in respiratory chain complex II and variably in complexes I and III. We found decreased mitochondrial and cytosolic aconitase activities but only mildly affected lipoylation of pyruvate dehydrogenase and 2-oxoglutarate dehydrogenase enzymes. Our studies expand the phenotypic spectrum and provide further evidence for the pathogenicity and functional sequelae of NFS1-related disorders with disturbances in both mitochondrial and cytosolic iron-sulfur cluster containing enzymes.

Indexed as

IronIron-Sulfur ProteinsCarbon-Sulfur LyasesElectron Transport Complex IHumansMitochondriaMitochondrial ProteinsSulfurYoung AdultCarbon-Sulfur LyasesElectron Transport Complex IIronIron-Sulfur ProteinsMitochondrial ProteinsNFS1 protein, humanSulfuriron-sulfur clusteropathieslactic acidosismitochondrialNFS1pediatric

Identifiers

PMID35026043
PMCPMC8863643
OpenAlexW4206816227

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.