Evidence map›Paper›PMID 27106100›Full record

ArticleHuman molecular genetics2016

A missense mutation in ASRGL1 is involved in causing autosomal recessive retinal degeneration.

Pooja Biswas, Venkata Ramana Murthy Chavali, Giulia Agnello, Everett Stone, Christina Chakarova, Jacque L Duncan, Chitra Kannabiran, Melissa Homsher, Shomi S Bhattacharya, Muhammad Asif Naeem and 9 more

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

Article in Human molecular genetics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
17citing papers in PubMed, 1 pooled it
1.7field-weighted citation impact, top 15% 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

17 citing papers in PubMed, 1 synthesis or guideline pooled it, 19 citations in OpenAlex.

  1. Pooled it
  2. Article
  3. The Connection Between Cellular Metabolism and Retinal Disease.Advances in experimental medicine and biology · 2025
    Review
  4. Article
  5. Article
  6. Editorial: Genetic features contributing to eye development and disease.Frontiers in cell and developmental biology · 2022
    Article
  7. Article
  8. Article
  9. Deletion ofFrontiers in cell and developmental biology · 2021
    Article
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  11. Article
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  17. 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

19 authors at 14 institutions in 6 countries.

Pooja BiswasShiley Eye Institute, University of California San Diego, La Jolla, CA, USA.
Venkata Ramana Murthy ChavaliOphthalmology, University of Pennsylvania, Philadelphia, PA, USA.
Giulia AgnelloDepartments of Biomedical and Chemical Engineering, Molecular Biosciences, Section of Molecular Genetics and Microbiology, and Institute for Cell and Molecular Biology, The University of Texas at Austin, Austin, TX, USA.
Everett StoneDepartments of Biomedical and Chemical Engineering, Molecular Biosciences, Section of Molecular Genetics and Microbiology, and Institute for Cell and Molecular Biology, The University of Texas at Austin, Austin, TX, USA.
Christina ChakarovaUCL Institute of Ophthalmology, 11-43 Bath Street, London, UK.
Jacque L DuncanOphthalmology, University of California San Francisco, San Francisco, CA, USA.
Chitra KannabiranKallam Anji Reddy Molecular Genetics Laboratory, L V Prasad Eye Institute (LVPEI), Kallam Anji Reddy Campus, L V Prasad Marg, Hyderabad 500 034, India.
Melissa HomsherOphthalmology, University of Pennsylvania, Philadelphia, PA, USA.
Shomi S BhattacharyaUCL Institute of Ophthalmology, 11-43 Bath Street, London, UK.
Muhammad Asif NaeemNational Centre of Excellence in Molecular Biology, University of the Punjab, Lahore, Pakistan.
Adva KimchiDepartment of Ophthalmology, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.
Dror SharonDepartment of Ophthalmology, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.
Takeshi IwataDivision of Molecular and Cellular Biology, National Institute of Sensory Organs, National Hospital Organization Tokyo Medical Center, Tokyo, Japan.
Shaikh RiazuddinAllama Iqbal Medical College, University of Health Sciences Lahore, Pakistan.
G Bhanuprakash ReddyNational Institute of Nutrition, Hyderabad 500 007, India.
J Fielding HejtmancikOMGS/OGVFB branch, National Eye Institute, NIH, Bethesda, MD, USA.
George GeorgiouDepartments of Biomedical and Chemical Engineering, Molecular Biosciences, Section of Molecular Genetics and Microbiology, and Institute for Cell and Molecular Biology, The University of Texas at Austin, Austin, TX, USA.
S Amer RiazuddinThe Wilmer Eye Institute, Johns Hopkins University School of Medicine, Baltimore, MD, USA rayyagari@ucsd.edu riazuddin@jhmi.edu.
Radha AyyagariShiley Eye Institute, University of California San Diego, La Jolla, CA, USA rayyagari@ucsd.edu riazuddin@jhmi.edu.
The University of Texas at Austin · USHadassah Medical Center · ILUniversity of California, San Diego · USUniversity of Pennsylvania · USAllama Iqbal Medical College · PKJohns Hopkins Medicine · USL V Prasad Eye Institute · INNational Eye Institute · USNational Institute of Nutrition · INTokyo Medical Center · JPUniversity College Hospital · GBUniversity College London · GBUniversity of California, San Francisco · USUniversity of the Punjab · PK

Funding

Inherited Ocular DiseasesZIAEY000272 · NEI · NATIONAL EYE INSTITUTE · PI HEJTMANCIK, JAMES F. · 2009 to 2025
$27.0M
Vision BiostatisticsP30EY022589 · NEI · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI LINDA M ZANGWILL · 2012 to 2026
$10.3M
Molecular Basis of Hereditary Retinal DegenerationsR01EY021237 · NEI · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI AYYAGARI, RADHA · 2011 to 2020
$5.6M
NEI NIH HHS P30 EY022589NEI NIH HHS R01 EY021237
6 · The paper itself

Abstract

Inherited retinal dystrophies are a group of genetically heterogeneous conditions with broad phenotypic heterogeneity. We analyzed a large five-generation pedigree with early-onset recessive retinal degeneration to identify the causative mutation. Linkage analysis and homozygosity mapping combined with exome sequencing were carried out to map the disease locus and identify the p.G178R mutation in the asparaginase like-1 gene (ASRGL1), segregating with the retinal dystrophy phenotype in the study pedigree. ASRGL1 encodes an enzyme that catalyzes the hydrolysis of L-asparagine and isoaspartyl-peptides. Studies on the ASRGL1 expressed in Escherichia coli and transiently transfected mammalian cells indicated that the p.G178R mutation impairs the autocatalytic processing of this enzyme resulting in the loss of functional ASRGL1 and leaving the inactive precursor protein as a destabilized and aggregation-prone protein. A zebrafish model overexpressing the mutant hASRGL1 developed retinal abnormalities and loss of cone photoreceptors. Our studies suggest that the p.G178R mutation in ASRGL1 leads to photoreceptor degeneration resulting in progressive vision loss.

Indexed as

Genetic Predisposition to DiseaseAdultAnimalsAsparaginaseAutoantigensDisease Models, AnimalExomeGenetic LinkageHumansMaleMiddle AgedMutation, MissensePedigreePhenotypeRetinaRetinal Cone Photoreceptor CellsAsparaginaseASRGL1 protein, humanAutoantigens

Identifiers

PMID27106100
PMCPMC6086560
OpenAlexW2336509285

What OpenQuestion holds

Textmetadata
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.