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serine and Down Syndrome

serine has been researched along with Down Syndrome in 13 studies

Serine: A non-essential amino acid occurring in natural form as the L-isomer. It is synthesized from GLYCINE or THREONINE. It is involved in the biosynthesis of PURINES; PYRIMIDINES; and other amino acids.
serine : An alpha-amino acid that is alanine substituted at position 3 by a hydroxy group.

Down Syndrome: A chromosome disorder associated either with an extra chromosome 21 or an effective trisomy for chromosome 21. Clinical manifestations include hypotonia, short stature, brachycephaly, upslanting palpebral fissures, epicanthus, Brushfield spots on the iris, protruding tongue, small ears, short, broad hands, fifth finger clinodactyly, Simian crease, and moderate to severe INTELLECTUAL DISABILITY. Cardiac and gastrointestinal malformations, a marked increase in the incidence of LEUKEMIA, and the early onset of ALZHEIMER DISEASE are also associated with this condition. Pathologic features include the development of NEUROFIBRILLARY TANGLES in neurons and the deposition of AMYLOID BETA-PROTEIN, similar to the pathology of ALZHEIMER DISEASE. (Menkes, Textbook of Child Neurology, 5th ed, p213)

Research Excerpts

ExcerptRelevanceReference
" Dependent on its kinase activity and correlated with the dosage of overexpression, DYRK1A blocked proliferation of SH-SY5Y neuroblastoma cells within 24 h and arrested the cells in G₁ phase."5.40The Down syndrome-related protein kinase DYRK1A phosphorylates p27(Kip1) and Cyclin D1 and induces cell cycle exit and neuronal differentiation. ( Becker, W; Florencio Ortiz, V; Pasqualon, T; Schumacher, J; Soppa, U; Tejedor, FJ, 2014)
"Minibrain kinase/dual-specificity tyrosine phosphorylation-regulated kinase (Mnb/Dyrk1A) is a proline-directed serine/threonine kinase encoded in the Down syndrome critical region of human chromosome 21."3.73Phosphorylation of amphiphysin I by minibrain kinase/dual-specificity tyrosine phosphorylation-regulated kinase, a kinase implicated in Down syndrome. ( Chen-Hwang, MC; Hwang, YW; Lu, RC; Murakami, N; Wieraszko, A; Xie, W, 2006)
"Thus, NE stimulation may prevent memory loss in Ts65Dn mice, and may hold promise for treatment in individuals with DS and dementia."1.42Designer receptors enhance memory in a mouse model of Down syndrome. ( Aston-Jones, G; Boger, HA; Cass, WA; Fortress, AM; Granholm, AC; Hamlett, ED; Vazey, EM, 2015)
" Dependent on its kinase activity and correlated with the dosage of overexpression, DYRK1A blocked proliferation of SH-SY5Y neuroblastoma cells within 24 h and arrested the cells in G₁ phase."1.40The Down syndrome-related protein kinase DYRK1A phosphorylates p27(Kip1) and Cyclin D1 and induces cell cycle exit and neuronal differentiation. ( Becker, W; Florencio Ortiz, V; Pasqualon, T; Schumacher, J; Soppa, U; Tejedor, FJ, 2014)
" The increased dosage of Dyrk1A in DS brain due to trisomy of chromosome 21 correlates to an increase in 3R-tau level, which on abnormal hyperphosphorylation and aggregation of tau results in neurofibrillary degeneration."1.35Increased dosage of Dyrk1A alters alternative splicing factor (ASF)-regulated alternative splicing of tau in Down syndrome. ( Chohan, MO; Gong, CX; Grundke-Iqbal, I; Gu, X; Hwang, YW; Iqbal, K; Liu, F; Shi, J; Wegiel, J; Zhang, T; Zhou, C; Zhou, J, 2008)
"Down syndrome is the most frequent genetic disorder in humans."1.31Mutational analyses of the signals involved in the subcellular location of DSCR1. ( Han, SW; Henrique-Silva, F; Machado-Santelli, GM; Pfister, SC, 2002)
"A comparative study of the variations of amino acid concentration with age in Down's syndrome subjects aged 0 to 60 years and in control subjects aged 0 to 94 years was made in order to determine whether these impairments could be explained by generalized premature aging, or by a specific gene dosage effect."1.30[Variation of amino acids in relation to age in Down syndrome subjects]. ( Kamoun, P; Lejeune, J; Mircher, C; Parvy, P; Peeters, MA; Rabier, D; Salabelle, A, 1997)
"In contrast, trisomy 21 did not affect the uptake of choline, serine or glucose."1.28Down's syndrome fibroblasts exhibit enhanced inositol uptake. ( Fruen, BR; Lester, BR, 1990)

Research

Studies (13)

TimeframeStudies, this research(%)All Research%
pre-19900 (0.00)18.7374
1990's2 (15.38)18.2507
2000's6 (46.15)29.6817
2010's5 (38.46)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
Soundararajan, M1
Roos, AK1
Savitsky, P1
Filippakopoulos, P1
Kettenbach, AN1
Olsen, JV1
Gerber, SA1
Eswaran, J1
Knapp, S1
Elkins, JM1
Soppa, U1
Schumacher, J1
Florencio Ortiz, V1
Pasqualon, T1
Tejedor, FJ1
Becker, W1
Fortress, AM1
Hamlett, ED1
Vazey, EM1
Aston-Jones, G1
Cass, WA1
Boger, HA1
Granholm, AC1
Dorard, E1
Gorisse-Hussonnois, L1
Guihenneuc-Jouyaux, C1
Albac, C1
Potier, MC1
Allinquant, B1
Shi, J1
Zhang, T1
Zhou, C1
Chohan, MO1
Gu, X1
Wegiel, J1
Zhou, J1
Hwang, YW2
Iqbal, K1
Grundke-Iqbal, I1
Gong, CX1
Liu, F1
Palminiello, S2
Jarząbek, K2
Kaur, K2
Walus, M2
Rabe, A1
Albertini, G2
Golabek, AA2
Kida, E2
Wierzba-Bobrowicz, T1
Pfister, SC1
Machado-Santelli, GM1
Han, SW1
Henrique-Silva, F1
Jong, YJ1
Ford, SR1
Seehra, K1
Malave, VB1
Baenziger, NL1
Murakami, N1
Xie, W1
Lu, RC1
Chen-Hwang, MC1
Wieraszko, A1
Ryoo, SR1
Jeong, HK1
Radnaabazar, C1
Yoo, JJ1
Cho, HJ1
Lee, HW1
Kim, IS1
Cheon, YH1
Ahn, YS1
Chung, SH1
Song, WJ1
Mircher, C1
Salabelle, A1
Peeters, MA1
Rabier, D1
Parvy, P1
Kamoun, P1
Lejeune, J1
Fruen, BR1
Lester, BR1

Other Studies

13 other studies available for serine and Down Syndrome

ArticleYear
Structures of Down syndrome kinases, DYRKs, reveal mechanisms of kinase activation and substrate recognition.
    Structure (London, England : 1993), 2013, Jun-04, Volume: 21, Issue:6

    Topics: Amino Acid Sequence; Catalytic Domain; Down Syndrome; Dyrk Kinases; Enzyme Activation; Humans; Model

2013
The Down syndrome-related protein kinase DYRK1A phosphorylates p27(Kip1) and Cyclin D1 and induces cell cycle exit and neuronal differentiation.
    Cell cycle (Georgetown, Tex.), 2014, Volume: 13, Issue:13

    Topics: Animals; Brain; Cell Cycle; Cell Differentiation; Cell Line; Cyclin D1; Cyclin-Dependent Kinase Inhi

2014
Designer receptors enhance memory in a mouse model of Down syndrome.
    The Journal of neuroscience : the official journal of the Society for Neuroscience, 2015, Jan-28, Volume: 35, Issue:4

    Topics: Animals; Antipsychotic Agents; Cell Count; Clozapine; Cross-Over Studies; Designer Drugs; Disease Mo

2015
Increases of SET level and translocation are correlated with tau hyperphosphorylation at ser202/thr205 in CA1 of Ts65Dn mice.
    Neurobiology of aging, 2016, Volume: 46

    Topics: Amyloid beta-Protein Precursor; Animals; Brain; CA1 Region, Hippocampal; Cytoplasm; Disease Models,

2016
Increased dosage of Dyrk1A alters alternative splicing factor (ASF)-regulated alternative splicing of tau in Down syndrome.
    The Journal of biological chemistry, 2008, Oct-17, Volume: 283, Issue:42

    Topics: Alternative Splicing; Animals; Brain; Cell Line, Tumor; Chlorocebus aethiops; COS Cells; Down Syndro

2008
Upregulation of phosphorylated alphaB-crystallin in the brain of children and young adults with Down syndrome.
    Brain research, 2009, May-01, Volume: 1268

    Topics: Adolescent; alpha-Crystallin B Chain; Astrocytes; Brain; Child; Child, Preschool; Down Syndrome; Epe

2009
Molecular chaperone alphaB-crystallin is expressed in the human fetal telencephalon at midgestation by a subset of progenitor cells.
    Journal of neuropathology and experimental neurology, 2010, Volume: 69, Issue:7

    Topics: Age Factors; alpha-Crystallin B Chain; Down Syndrome; Embryonic Stem Cells; Fetus; Gene Expression R

2010
Mutational analyses of the signals involved in the subcellular location of DSCR1.
    BMC cell biology, 2002, Sep-11, Volume: 3

    Topics: Amino Acid Motifs; Animals; Calcineurin; Calcineurin Inhibitors; Cell Line; Chlorocebus aethiops; CH

2002
Alzheimer's disease skin fibroblasts selectively express a bradykinin signaling pathway mediating tau protein Ser phosphorylation.
    FASEB journal : official publication of the Federation of American Societies for Experimental Biology, 2003, Volume: 17, Issue:15

    Topics: Adult; Alzheimer Disease; Bradykinin; Cell Line; Down Syndrome; Fibroblasts; Humans; Membrane Protei

2003
Phosphorylation of amphiphysin I by minibrain kinase/dual-specificity tyrosine phosphorylation-regulated kinase, a kinase implicated in Down syndrome.
    The Journal of biological chemistry, 2006, Aug-18, Volume: 281, Issue:33

    Topics: Adaptor Proteins, Signal Transducing; Amino Acid Substitution; Animals; Binding Sites, Antibody; CHO

2006
DYRK1A-mediated hyperphosphorylation of Tau. A functional link between Down syndrome and Alzheimer disease.
    The Journal of biological chemistry, 2007, Nov-30, Volume: 282, Issue:48

    Topics: Alzheimer Disease; Animals; Brain; Cell Line; DNA, Complementary; Down Syndrome; Dyrk Kinases; Human

2007
[Variation of amino acids in relation to age in Down syndrome subjects].
    Archives de pediatrie : organe officiel de la Societe francaise de pediatrie, 1997, Volume: 4, Issue:11

    Topics: Adolescent; Adult; Age Factors; Amino Acids; Child; Child, Preschool; Down Syndrome; Female; Humans;

1997
Down's syndrome fibroblasts exhibit enhanced inositol uptake.
    The Biochemical journal, 1990, Aug-15, Volume: 270, Issue:1

    Topics: Alzheimer Disease; Biological Transport; Cell Line; Choline; Chromosome Mapping; Chromosomes, Human,

1990