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43/100

✓ Peer-reviewed alzhub usefulness score 43 out of 100. Down syndrome and Alzheimer's

Topic: Brain proteins, microglia and lab models

Triplication of chromosome 21 in Down syndrome (DS) results in overexpression of the minibrain kinase/dual-specificity tyrosine phosphorylated and regulated kinase 1A gene (DYRK1A). DYRK1A phosphorylates cytoplasmic tau protein and appears in intraneuronal neurofibrillary tangles (NFTs). We have previously shown significantly more DYRK1A-positive NFTs in DS brains than in sporadic Alzheimer disease (AD) brains. This study demonstrates a gene dosage-proportional increase in the level of DYRK1A in DS in the cytoplasm and the cell nucleus, and enhanced cytoplasmic and nuclear immunoreactivity of DYRK1A in DS. The results suggest that overexpressed DYRK1A may alter both phosphorylation of tau and alternative splicing factor (ASF). Two-dimensional electrophoresis revealed modification of ASF phosphorylation in DS/AD and AD in comparison to controls. Altered phosphorylation of ASF by overexpressed nuclear DYRK1A may contribute to the alternative splicing of the tau gene and an increase by 2.68 × of the 3R/4R ratio in DS/AD, and a several-fold increase in the number of 3R tau-positive NFTs in DS/AD subjects compared with that in sporadic AD subjects. These data support the hypothesis that phosphorylation of ASF by overexpressed DYRK1A may contribute to alternative splicing of exon 10, increased expression of 3R tau, and early onset of neurofibrillary degeneration in DS.

Cite this study APA, Vancouver, BibTeX · download .bib or .ris

APA 7th

Wegiel, J., Kaczmarski, W., Barua, M., Kuchna, I., Nowicki, K., Wang, K. C., et al. (2011). Link between DYRK1A overexpression and several-fold enhancement of neurofibrillary degeneration with 3-repeat tau protein in Down syndrome. Journal of neuropathology and experimental neurology. https://doi.org/10.1097/nen.0b013e318202bfa1

Vancouver

Wegiel J, Kaczmarski W, Barua M, Kuchna I, Nowicki K, Wang KC, et al. Link between DYRK1A overexpression and several-fold enhancement of neurofibrillary degeneration with 3-repeat tau protein in Down syndrome. Journal of neuropathology and experimental neurology. 2011. doi:10.1097/nen.0b013e318202bfa1. PMID: 21157379.

BibTeX

@article{wegiel2011-21157379,
  author  = {Wegiel, J. and Kaczmarski, W. and Barua, M. and Kuchna, I. and Nowicki, K. and Wang, K. C. and Yang, S. M. and others},
  title   = {{Link between DYRK1A overexpression and several-fold enhancement of neurofibrillary degeneration with 3-repeat tau protein in Down syndrome}},
  journal = {Journal of neuropathology and experimental neurology},
  year    = {2011},
  doi     = {10.1097/nen.0b013e318202bfa1},
  pmid    = {21157379},
  url     = {https://doi.org/10.1097/nen.0b013e318202bfa1}
}

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Key findings

Triplication of chromosome 21 in Down syndrome (DS) results in overexpression of the minibrain kinase/dual-specificity tyrosine phosphorylated and regulated kinase 1A gene (DYRK1A).
We have previously shown significantly more DYRK1A-positive NFTs in DS brains than in sporadic Alzheimer disease (AD) brains.
The results suggest that overexpressed DYRK1A may alter both phosphorylation of tau and alternative splicing factor (ASF).
Two-dimensional electrophoresis revealed modification of ASF phosphorylation in DS/AD and AD in comparison to controls.
Altered phosphorylation of ASF by overexpressed nuclear DYRK1A may contribute to the alternative splicing of the tau gene and an increase by 2.68 × of the 3R/4R ratio in DS/AD, and a several-fold increase in the number of 3R tau-positive NFTs in DS/AD subjects compared with that in sporadic AD subjects.

Why it matters

In Down syndrome brain tissue, this study found a gene dosage-proportional increase in DYRK1A and a several-fold increase in 3-repeat tau-positive neurofibrillary tangles compared with sporadic Alzheimer's disease. It supports a hypothesis about how overexpressed DYRK1A may contribute to early neurofibrillary degeneration, but it is tissue analysis and tests no treatment.

Study details

Evidence strengthLow

How this study scored 43/100

Published in a peer-reviewed journal. Scored zero for study design, sample size, effect reported, studied in people and randomized / blinded because the record does not state it.

Component	Points	Why
Journal tier	7 / 10	Tier 3 — peer-reviewed journal (Journal of neuropathology and experimental neurology)
Journal's citation record	2 / 4	Journal of Neuropathology & Experimental Neurology: journal h-index 239 (OpenAlex, 2026-10-29)
Study design	0 / 12	No study design recorded — scores zero, not guessed (not stated in the record — scored 0)
Strength of evidence	1 / 5	Rated “low” in our summary
Peer-review validation	10 / 10	Peer-reviewed. Published as an article in a named peer-reviewed journal.
How recent	1 / 5	2011 — within 20 year(s) of the newest study here
Sample size	0 / 4	Participant count not stated — scores zero (not stated in the record — scored 0)
Effect reported	0 / 3	No effect size reported — scores zero (not stated in the record — scored 0)
Studied in people	0 / 3	Not stated whether this was studied in people — scores zero (not stated in the record — scored 0)
Randomized / blinded	0 / 2	No randomization or blinding stated — scores zero (not stated in the record — scored 0)
Times cited	4 / 7	Cited 99 times (OpenAlex, 2026-10-10)
Citations per year	2 / 5	5.8 citations a year over 17 year(s) since 2011
Impact for its field and year	3 / 6	Cited 3.2× the average for papers of its field and year (OpenAlex FWCI)
Cited by studies here	2 / 6	Cited by 9 other studies in this library
Still being cited	2 / 4	Cited 23 times in 2024–2026 (2026 still in progress; OpenAlex)
Senior author's track record	3 / 4	Last-listed author Cheng‐Xin Gong: h-index 81 (OpenAlex, whole career)
Institution's track record	2 / 3	Johns Hopkins University: institution h-index 2,306 (OpenAlex)
Multicenter collaboration	2 / 3	OpenAlex lists 6 institution(s) in 1 country
Indexed in PubMed	2 / 2	Indexed in PubMed (PMID 21157379)
Free to read	0 / 2	Behind a paywall — scores zero
Total	43 / 100	—

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