Evidence map›Paper›PMID 28812062›Full record

ArticleNeurology. Genetics2017

Clinical and experimental studies of a novel P525R FUS mutation in amyotrophic lateral sclerosis.

Lisha Kuang, Marisa Kamelgarn, Alexandra Arenas, Jozsef Gal, Deborah Taylor, Weiming Gong, Martin Brown, Daret St Clair, Edward J Kasarskis, Haining Zhu

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

Article in Neurology. Genetics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.

0numbers the graph read from it
0cells of the map it votes in
11citing papers in PubMed
2.1field-weighted citation impact, top 13% 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

11 citing papers in PubMed, 23 citations in OpenAlex.

  1. Review
  2. Review
  3. Article
  4. Article
  5. Article
  6. Article
  7. Article
  8. Article
  9. ALS mutations of FUS suppress protein translation and disrupt the regulation of nonsense-mediated decay.Proceedings of the National Academy of Sciences of the United States of America · 2018
    Article
  10. Article
  11. Linking hnRNP Function to ALS and FTD Pathology.Frontiers in neuroscience · 2018
    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

10 authors at 3 institutions in 2 countries.

Lisha KuangMolecular and Cellular Biochemistry (L.K., J.G., H.Z.), Department of Toxicology and Cancer Biology (M.K., A.A., D.S.C., H.Z.), and Department of Neurology (D.T., E.J.K.), College of Medicine, University of Kentucky, Lexington; Hefei National Laboratory for Physical Sciences at the Microscale (W.G.), University of Science and Technology of China, Anhui; Department of Neurology (M.B.), University of Louisville; and Research and Development (E.J.K., H.Z.), Lexington VA Medical Center, KY.
Marisa KamelgarnMolecular and Cellular Biochemistry (L.K., J.G., H.Z.), Department of Toxicology and Cancer Biology (M.K., A.A., D.S.C., H.Z.), and Department of Neurology (D.T., E.J.K.), College of Medicine, University of Kentucky, Lexington; Hefei National Laboratory for Physical Sciences at the Microscale (W.G.), University of Science and Technology of China, Anhui; Department of Neurology (M.B.), University of Louisville; and Research and Development (E.J.K., H.Z.), Lexington VA Medical Center, KY.
Alexandra ArenasMolecular and Cellular Biochemistry (L.K., J.G., H.Z.), Department of Toxicology and Cancer Biology (M.K., A.A., D.S.C., H.Z.), and Department of Neurology (D.T., E.J.K.), College of Medicine, University of Kentucky, Lexington; Hefei National Laboratory for Physical Sciences at the Microscale (W.G.), University of Science and Technology of China, Anhui; Department of Neurology (M.B.), University of Louisville; and Research and Development (E.J.K., H.Z.), Lexington VA Medical Center, KY.
Jozsef GalMolecular and Cellular Biochemistry (L.K., J.G., H.Z.), Department of Toxicology and Cancer Biology (M.K., A.A., D.S.C., H.Z.), and Department of Neurology (D.T., E.J.K.), College of Medicine, University of Kentucky, Lexington; Hefei National Laboratory for Physical Sciences at the Microscale (W.G.), University of Science and Technology of China, Anhui; Department of Neurology (M.B.), University of Louisville; and Research and Development (E.J.K., H.Z.), Lexington VA Medical Center, KY.
Deborah TaylorMolecular and Cellular Biochemistry (L.K., J.G., H.Z.), Department of Toxicology and Cancer Biology (M.K., A.A., D.S.C., H.Z.), and Department of Neurology (D.T., E.J.K.), College of Medicine, University of Kentucky, Lexington; Hefei National Laboratory for Physical Sciences at the Microscale (W.G.), University of Science and Technology of China, Anhui; Department of Neurology (M.B.), University of Louisville; and Research and Development (E.J.K., H.Z.), Lexington VA Medical Center, KY.
Weiming GongMolecular and Cellular Biochemistry (L.K., J.G., H.Z.), Department of Toxicology and Cancer Biology (M.K., A.A., D.S.C., H.Z.), and Department of Neurology (D.T., E.J.K.), College of Medicine, University of Kentucky, Lexington; Hefei National Laboratory for Physical Sciences at the Microscale (W.G.), University of Science and Technology of China, Anhui; Department of Neurology (M.B.), University of Louisville; and Research and Development (E.J.K., H.Z.), Lexington VA Medical Center, KY.
Martin BrownMolecular and Cellular Biochemistry (L.K., J.G., H.Z.), Department of Toxicology and Cancer Biology (M.K., A.A., D.S.C., H.Z.), and Department of Neurology (D.T., E.J.K.), College of Medicine, University of Kentucky, Lexington; Hefei National Laboratory for Physical Sciences at the Microscale (W.G.), University of Science and Technology of China, Anhui; Department of Neurology (M.B.), University of Louisville; and Research and Development (E.J.K., H.Z.), Lexington VA Medical Center, KY.
Daret St ClairMolecular and Cellular Biochemistry (L.K., J.G., H.Z.), Department of Toxicology and Cancer Biology (M.K., A.A., D.S.C., H.Z.), and Department of Neurology (D.T., E.J.K.), College of Medicine, University of Kentucky, Lexington; Hefei National Laboratory for Physical Sciences at the Microscale (W.G.), University of Science and Technology of China, Anhui; Department of Neurology (M.B.), University of Louisville; and Research and Development (E.J.K., H.Z.), Lexington VA Medical Center, KY.
Edward J KasarskisMolecular and Cellular Biochemistry (L.K., J.G., H.Z.), Department of Toxicology and Cancer Biology (M.K., A.A., D.S.C., H.Z.), and Department of Neurology (D.T., E.J.K.), College of Medicine, University of Kentucky, Lexington; Hefei National Laboratory for Physical Sciences at the Microscale (W.G.), University of Science and Technology of China, Anhui; Department of Neurology (M.B.), University of Louisville; and Research and Development (E.J.K., H.Z.), Lexington VA Medical Center, KY.
Haining ZhuMolecular and Cellular Biochemistry (L.K., J.G., H.Z.), Department of Toxicology and Cancer Biology (M.K., A.A., D.S.C., H.Z.), and Department of Neurology (D.T., E.J.K.), College of Medicine, University of Kentucky, Lexington; Hefei National Laboratory for Physical Sciences at the Microscale (W.G.), University of Science and Technology of China, Anhui; Department of Neurology (M.B.), University of Louisville; and Research and Development (E.J.K., H.Z.), Lexington VA Medical Center, KY.
Hefei National Center for Physical Sciences at Nanoscale · CNUniversity of Louisville · USUniversity of Science and Technology of China · CN

Funding

TRAINING GRANT IN MOLECULAR MECHANISMS OF TOXICITY.T32ES007266 · NIEHS · UNIVERSITY OF KENTUCKY · PI LIU, XIAOQI, MELLON, ISABEL W · 1990 to 2020
$3.7M
Role of FUS in ALSR01NS077284 · NINDS · UNIVERSITY OF KENTUCKY · PI ZHU, HAINING · 2011 to 2014
$1.3M
FUS Protein Homeostasis in ALSI01BX002149 · VA · VA MEDICAL CENTER - LEXINGTON, KY · PI ZHU, HAINING · 2016 to 2023
–
BLRD VA I01 BX002149NIEHS NIH HHS T32 ES007266NINDS NIH HHS R01 NS077284
6 · The paper itself

Abstract

objectiveTo describe the clinical features of a novel fused in sarcoma (FUS) mutation in a young adult female amyotrophic lateral sclerosis (ALS) patient with rapid progression of weakness and to experimentally validate the consequences of the P525R mutation in cellular neuronal models.

methodsWe conducted sequencing of genomic DNA from the index patient and her family members. Immunocytochemistry was performed in various cellular models to determine whether the newly identified P525R mutant FUS protein accumulated in cytoplasmic inclusions. Clinical features of the index patient were compared with 19 other patients with ALS carrying the P525L mutation in the same amino acid position.

resultsA novel mutation c.1574C>G (p.525P>R) in the

conclusionsThe clinical features of the patient and the cytoplasmic inclusions of the P525R mutant FUS protein strengthen the notion that mutations at position 525 of the FUS protein result in a coherent phenotype characterized by juvenile or young adult onset, rapid progression, variable positive family history, and female preponderance.

Identifiers

PMID28812062
PMCPMC5546284
OpenAlexW2736779108

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