Type |
Details |
Score |
Publication |
First Author: |
Li Y |
Year: |
2021 |
Journal: |
Genes (Basel) |
Title: |
Coat Color-Facilitated Efficient Generation and Analysis of a Mouse Model of Down Syndrome Triplicated for All Human Chromosome 21 Orthologous Regions. |
Volume: |
12 |
Issue: |
8 |
|
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•
•
•
•
•
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Publication |
First Author: |
Yu T |
Year: |
2010 |
Journal: |
Hum Mol Genet |
Title: |
A mouse model of Down syndrome trisomic for all human chromosome 21 syntenic regions. |
Volume: |
19 |
Issue: |
14 |
Pages: |
2780-91 |
|
•
•
•
•
•
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Publication |
First Author: |
Granno S |
Year: |
2019 |
Journal: |
Sci Rep |
Title: |
Downregulated Wnt/β-catenin signalling in the Down syndrome hippocampus. |
Volume: |
9 |
Issue: |
1 |
Pages: |
7322 |
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•
•
•
•
•
|
Publication |
First Author: |
Tosh JL |
Year: |
2021 |
Journal: |
Sci Rep |
Title: |
Genetic dissection of down syndrome-associated alterations in APP/amyloid-β biology using mouse models. |
Volume: |
11 |
Issue: |
1 |
Pages: |
5736 |
|
•
•
•
•
•
|
Publication |
First Author: |
Muza PM |
Year: |
2023 |
Journal: |
iScience |
Title: |
Cognitive impairments in a Down syndrome model with abnormal hippocampal and prefrontal dynamics and cytoarchitecture. |
Volume: |
26 |
Issue: |
2 |
Pages: |
106073 |
|
•
•
•
•
•
|
Genotype |
Symbol: |
Dp(10Prmt2-Pdxk)2Yey/? Dp(16Lipi-Zbtb21)1Yey/? Dp(17Abcg1-Rrp1b)3Yey/? |
Background: |
B6.129S7-Dp(10Prmt2-Pdxk)2Yey Dp(16Lipi-Zbtb21)1Yey Dp(17Abcg1-Rrp1b)3Yey |
Zygosity: |
cx |
Has Mutant Allele: |
true |
|
•
•
•
•
•
|
Publication |
First Author: |
Yang Y |
Year: |
1998 |
Journal: |
J Bacteriol |
Title: |
Identification and function of the pdxY gene, which encodes a novel pyridoxal kinase involved in the salvage pathway of pyridoxal 5'-phosphate biosynthesis in Escherichia coli K-12. |
Volume: |
180 |
Issue: |
7 |
Pages: |
1814-21 |
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•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
312
 |
Fragment?: |
false |
|
•
•
•
•
•
|
Publication |
First Author: |
di Salvo ML |
Year: |
2004 |
Journal: |
Protein Expr Purif |
Title: |
Expression, purification, and kinetic constants for human and Escherichia coli pyridoxal kinases. |
Volume: |
36 |
Issue: |
2 |
Pages: |
300-6 |
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•
•
•
•
•
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Protein Domain |
Type: |
Family |
Description: |
Pyridoxal phosphate is the active form of vitamin B6 (pyridoxine or pyridoxal). Pyridoxal 5'-phosphate (PLP) is a versatile catalyst, acting as a coenzyme in a multitude of reactions, including decarboxylation, deamination and transamination [, , ]. PLP-dependent enzymes are primarily involved in the biosynthesis of amino acids and amino acid-derived metabolites, but they are also found in the biosynthetic pathways of amino sugars and in the synthesis or catabolism of neurotransmitters; pyridoxal phosphate can also inhibit DNA polymerases and several steroid receptors []. Inadequate levels of pyridoxal phosphate in the brain can cause neurological dysfunction, particularly epilepsy [].PLP enzymes exist in their resting state as a Schiff base, the aldehyde group of PLP forming a linkage with the ε-amino group of an active site lysine residue on the enzyme. The α-amino group of the substrate displaces the lysine ε-amino group, in the process forming a new aldimine with the substrate. This aldimine is the common central intermediate for all PLP-catalysed reactions, enzymatic and non-enzymatic [].Pyridoxal kinase PdxY (Escherichia coli pyridoxal kinase 2 or ePL kinase 2) phosphorylates B6 vitamers. PdxY acts in the salvage pathway of pyridoxal 5'-phosphate biosynthesis []. It has been shown to have some pyridoxal (PL) kinase activity, but at a greatly reduced level compared tothe enzyme expressed by the pdxK gene (ePL kinase 1) []. |
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•
•
•
•
•
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Publication |
First Author: |
Chang P |
Year: |
2020 |
Journal: |
Cell Rep |
Title: |
Altered Hippocampal-Prefrontal Neural Dynamics in Mouse Models of Down Syndrome. |
Volume: |
30 |
Issue: |
4 |
Pages: |
1152-1163.e4 |
|
•
•
•
•
•
|
Publication |
First Author: |
Zhang L |
Year: |
2014 |
Journal: |
Hum Mol Genet |
Title: |
Human chromosome 21 orthologous region on mouse chromosome 17 is a major determinant of Down syndrome-related developmental cognitive deficits. |
Volume: |
23 |
Issue: |
3 |
Pages: |
578-89 |
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•
•
•
•
•
|
Publication |
First Author: |
Liu C |
Year: |
2018 |
Journal: |
Oncotarget |
Title: |
Triplications of human chromosome 21 orthologous regions in mice result in expansion of megakaryocyte-erythroid progenitors and reduction of granulocyte-macrophage progenitors. |
Volume: |
9 |
Issue: |
4 |
Pages: |
4773-4786 |
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•
•
•
•
•
|
Publication |
First Author: |
Wu Y |
Year: |
2023 |
Journal: |
Acta Neuropathol Commun |
Title: |
Cathepsin B abundance, activity and microglial localisation in Alzheimer's disease-Down syndrome and early onset Alzheimer's disease; the role of elevated cystatin B. |
Volume: |
11 |
Issue: |
1 |
Pages: |
132 |
|
•
•
•
•
•
|
Publication |
First Author: |
Bhutta MF |
Year: |
2013 |
Journal: |
Mamm Genome |
Title: |
Surveying the Down syndrome mouse model resource identifies critical regions responsible for chronic otitis media. |
Volume: |
24 |
Issue: |
11-12 |
Pages: |
439-45 |
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•
•
•
•
•
|
Publication |
First Author: |
Watson-Scales S |
Year: |
2018 |
Journal: |
PLoS Genet |
Title: |
Analysis of motor dysfunction in Down Syndrome reveals motor neuron degeneration. |
Volume: |
14 |
Issue: |
5 |
Pages: |
e1007383 |
|
•
•
•
•
•
|
Publication |
First Author: |
Tateossian H |
Year: |
2025 |
Journal: |
Elife |
Title: |
DYRK1A kinase triplication is the major cause of Otitis Media in Down Syndrome. |
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|
|
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•
•
•
•
•
|
Publication |
First Author: |
Gupta M |
Year: |
2016 |
Journal: |
Mamm Genome |
Title: |
Mouse models of Down syndrome: gene content and consequences. |
Volume: |
27 |
Issue: |
11-12 |
Pages: |
538-555 |
|
•
•
•
•
•
|
Publication |
First Author: |
Zhang L |
Year: |
2012 |
Journal: |
Bioeng Bugs |
Title: |
Genetic analysis of Down syndrome facilitated by mouse chromosome engineering. |
Volume: |
3 |
Issue: |
1 |
Pages: |
8-12 |
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•
•
•
•
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