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Abnormal glycosylation in Joubert syndrome type 10

Overview of attention for article published in Cilia, March 2017
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Title
Abnormal glycosylation in Joubert syndrome type 10
Published in
Cilia, March 2017
DOI 10.1186/s13630-017-0048-6
Pubmed ID
Authors

Megan S. Kane, Mariska Davids, Michelle R. Bond, Christopher J. Adams, Megan E. Grout, Ian G. Phelps, Diana R. O’Day, Jennifer C. Dempsey, Xeuli Li, Gretchen Golas, Gilbert Vezina, Meral Gunay-Aygun, John A. Hanover, Dan Doherty, Miao He, May Christine V. Malicdan, William A. Gahl, Cornelius F. Boerkoel

Abstract

The discovery of disease pathogenesis requires systematic agnostic screening of multiple homeostatic processes that may become deregulated. We illustrate this principle in the evaluation and diagnosis of a 5-year-old boy with Joubert syndrome type 10 (JBTS10). He carried the OFD1 mutation p.Gln886Lysfs*2 (NM_003611.2: c.2656del) and manifested features of Joubert syndrome. We integrated exome sequencing, MALDI-TOF mass spectrometry analyses of plasma and cultured dermal fibroblasts glycomes, and full clinical evaluation of the proband. Analyses of cilia formation and lectin staining were performed by immunofluorescence. Measurement of cellular nucleotide sugar levels was performed with high-performance anion-exchange chromatography with pulsed amperometric detection. Statistical analyses utilized the Student's and Fisher's exact t tests. Glycome analyses of plasma and cultured dermal fibroblasts identified abnormal N- and O-linked glycosylation profiles. These findings replicated in two unrelated males with OFD1 mutations. Cultured fibroblasts from affected individuals had a defect in ciliogenesis. The proband's fibroblasts also had an abnormally elevated nuclear sialylation signature and increased total cellular levels of CMP-sialic acid. Ciliogenesis and each glycosylation anomaly were rescued by expression of wild-type OFD1. The rescue of ciliogenesis and glycosylation upon reintroduction of WT OFD1 suggests that both contribute to the pathogenesis of JBTS10.

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Mendeley readers

Mendeley readers

The data shown below were compiled from readership statistics for 18 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 18 100%

Demographic breakdown

Readers by professional status Count As %
Student > Ph. D. Student 6 33%
Researcher 5 28%
Professor 2 11%
Student > Doctoral Student 1 6%
Other 1 6%
Other 0 0%
Unknown 3 17%
Readers by discipline Count As %
Biochemistry, Genetics and Molecular Biology 7 39%
Agricultural and Biological Sciences 2 11%
Neuroscience 2 11%
Medicine and Dentistry 2 11%
Business, Management and Accounting 1 6%
Other 0 0%
Unknown 4 22%
Attention Score in Context

Attention Score in Context

This research output has an Altmetric Attention Score of 1. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 28 March 2017.
All research outputs
#18,539,663
of 22,961,203 outputs
Outputs from Cilia
#70
of 91 outputs
Outputs of similar age
#235,372
of 309,217 outputs
Outputs of similar age from Cilia
#7
of 7 outputs
Altmetric has tracked 22,961,203 research outputs across all sources so far. This one is in the 11th percentile – i.e., 11% of other outputs scored the same or lower than it.
So far Altmetric has tracked 91 research outputs from this source. They receive a mean Attention Score of 4.9. This one is in the 6th percentile – i.e., 6% of its peers scored the same or lower than it.
Older research outputs will score higher simply because they've had more time to accumulate mentions. To account for age we can compare this Altmetric Attention Score to the 309,217 tracked outputs that were published within six weeks on either side of this one in any source. This one is in the 12th percentile – i.e., 12% of its contemporaries scored the same or lower than it.
We're also able to compare this research output to 7 others from the same source and published within six weeks on either side of this one.