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Diagnostically important muscle pathology in DNAJB6 mutated LGMD1D

Overview of attention for article published in Acta Neuropathologica Communications, February 2016
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Title
Diagnostically important muscle pathology in DNAJB6 mutated LGMD1D
Published in
Acta Neuropathologica Communications, February 2016
DOI 10.1186/s40478-016-0276-9
Pubmed ID
Authors

Satu Sandell, Sanna Huovinen, Johanna Palmio, Olayinka Raheem, Mikaela Lindfors, Fang Zhao, Hannu Haapasalo, Bjarne Udd

Abstract

Limb girdle muscular dystrophies are a large group of both dominantly and recessively inherited muscle diseases. LGMD1D is caused by mutated DNAJB6 and the molecular pathogenesis is mediated by defective chaperonal function leading to impaired handling of misfolded proteins which normally would be degraded. Here we aim to clarify muscle pathology of LGMD1D in order to facilitate diagnostic accuracy. After following six Finnish LGMD1D families, we analysed 21 muscle biopsies obtained from 15 patients at different time points after the onset of symptoms. All biopsies were obtained from the lower limb muscles and processed for routine histochemistry, extensive immunohistochemistry and electron microscopy. Histopathological findings were myopathic or dystrophic combined with rimmed vacuolar pathology, and small myofibrillar aggregates. These myofibrillar inclusions contained abnormal accumulation of a number of proteins such as myotilin, αB-crystallin and desmin on immunohistochemistry, and showed extensive myofibrillar disorganization with excess of Z-disk material on ultrastructure. Later in the disease process the rimmed vacuolar pathology dominated with rare cases of pronounced larger pleomorphic myofibrillar aggregates. The rimmed vacuoles were reactive for several markers of defect autophagy such as ubiquitin, TDP-43, p62 and SMI-31. Since DNAJB6 is known to interact with members of the chaperone assisted selective autophagy complex (CASA), including BAG3 - a known myofibrillar myopathy causing gene, the molecular muscle pathology is apparently mediated through impaired functions of CASA and possibly other complexes needed for the maintenance of the Z-disk and sarcomeric structures. The corresponding findings on histopathology offer clues for the diagnosis.

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Mendeley readers

Mendeley readers

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Geographical breakdown

Country Count As %
United States 1 3%
Unknown 39 98%

Demographic breakdown

Readers by professional status Count As %
Student > Ph. D. Student 11 28%
Other 5 13%
Student > Master 5 13%
Researcher 5 13%
Professor 3 8%
Other 3 8%
Unknown 8 20%
Readers by discipline Count As %
Agricultural and Biological Sciences 9 23%
Neuroscience 9 23%
Biochemistry, Genetics and Molecular Biology 5 13%
Medicine and Dentistry 5 13%
Business, Management and Accounting 1 3%
Other 3 8%
Unknown 8 20%
Attention Score in Context

Attention Score in Context

This research output has an Altmetric Attention Score of 2. 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 06 February 2016.
All research outputs
#14,247,377
of 22,844,985 outputs
Outputs from Acta Neuropathologica Communications
#1,074
of 1,375 outputs
Outputs of similar age
#208,606
of 397,234 outputs
Outputs of similar age from Acta Neuropathologica Communications
#19
of 23 outputs
Altmetric has tracked 22,844,985 research outputs across all sources so far. This one is in the 35th percentile – i.e., 35% of other outputs scored the same or lower than it.
So far Altmetric has tracked 1,375 research outputs from this source. They typically receive a lot more attention than average, with a mean Attention Score of 12.9. This one is in the 19th percentile – i.e., 19% 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 397,234 tracked outputs that were published within six weeks on either side of this one in any source. This one is in the 44th percentile – i.e., 44% of its contemporaries scored the same or lower than it.
We're also able to compare this research output to 23 others from the same source and published within six weeks on either side of this one. This one is in the 13th percentile – i.e., 13% of its contemporaries scored the same or lower than it.