Page last updated: 2024-10-18

glycine and Amyoplasia Congenita

glycine has been researched along with Amyoplasia Congenita in 4 studies

Research Excerpts

ExcerptRelevanceReference
"Glycine is a major neurotransmitter that activates inhibitory glycine receptors and is a co-agonist for excitatory glutamatergic N-methyl-D-aspartate (NMDA) receptors."5.43Loss of Glycine Transporter 1 Causes a Subtype of Glycine Encephalopathy with Arthrogryposis and Mildly Elevated Cerebrospinal Fluid Glycine. ( Armbruster, A; Baris, HN; Ekhilevitch, N; Eulenburg, V; Hannappel, E; Hauf, K; Hershkovitz, D; Hershkovitz, T; Ilivitzki, A; Kurolap, A; Mahajnah, M; Mandel, H; Mory, A; Nijem, Y; Paperna, T; Sella, E; Tal, G, 2016)
"GLYT1 encephalopathy is a form of glycine encephalopathy caused by disturbance of glycine transport."4.02GLYT1 encephalopathy: Further delineation of disease phenotype and discussion of pathophysiological mechanisms. ( Casellas-Vidal, D; Diego-Álvarez, D; Espuña-Capote, N; García-González, MDM; Mademont-Soler, I; Maroto, A; Obón, M; Perapoch, J; Queralt, X; Ruiz, MD; Trujillo, A, 2021)
"Glycine is a major neurotransmitter that activates inhibitory glycine receptors and is a co-agonist for excitatory glutamatergic N-methyl-D-aspartate (NMDA) receptors."1.43Loss of Glycine Transporter 1 Causes a Subtype of Glycine Encephalopathy with Arthrogryposis and Mildly Elevated Cerebrospinal Fluid Glycine. ( Armbruster, A; Baris, HN; Ekhilevitch, N; Eulenburg, V; Hannappel, E; Hauf, K; Hershkovitz, D; Hershkovitz, T; Ilivitzki, A; Kurolap, A; Mahajnah, M; Mandel, H; Mory, A; Nijem, Y; Paperna, T; Sella, E; Tal, G, 2016)

Research

Studies (4)

TimeframeStudies, this research(%)All Research%
pre-19900 (0.00)18.7374
1990's0 (0.00)18.2507
2000's2 (50.00)29.6817
2010's1 (25.00)24.3611
2020's1 (25.00)2.80

Authors

AuthorsStudies
Mademont-Soler, I1
Casellas-Vidal, D1
Trujillo, A1
Espuña-Capote, N1
Maroto, A1
García-González, MDM1
Ruiz, MD1
Diego-Álvarez, D1
Queralt, X1
Perapoch, J1
Obón, M1
Kurolap, A1
Armbruster, A1
Hershkovitz, T1
Hauf, K1
Mory, A1
Paperna, T1
Hannappel, E1
Tal, G1
Nijem, Y1
Sella, E1
Mahajnah, M1
Ilivitzki, A1
Hershkovitz, D1
Ekhilevitch, N1
Mandel, H1
Eulenburg, V1
Baris, HN1
Esposito, G1
Vitagliano, L1
Costanzo, P1
Borrelli, L1
Barone, R1
Pavone, L1
Izzo, P1
Zagari, A1
Salvatore, F1
Robinson, P1
Lipscomb, S1
Preston, LC1
Altin, E1
Watkins, H1
Ashley, CC1
Redwood, CS1

Other Studies

4 other studies available for glycine and Amyoplasia Congenita

ArticleYear
GLYT1 encephalopathy: Further delineation of disease phenotype and discussion of pathophysiological mechanisms.
    American journal of medical genetics. Part A, 2021, Volume: 185, Issue:2

    Topics: Abortion, Spontaneous; Arthrogryposis; Female; Genetic Predisposition to Disease; Glycine; Glycine P

2021
Loss of Glycine Transporter 1 Causes a Subtype of Glycine Encephalopathy with Arthrogryposis and Mildly Elevated Cerebrospinal Fluid Glycine.
    American journal of human genetics, 2016, Nov-03, Volume: 99, Issue:5

    Topics: Animals; Arthrogryposis; Child, Preschool; Female; Gene Deletion; Gene Expression Regulation; Glycin

2016
Human aldolase A natural mutants: relationship between flexibility of the C-terminal region and enzyme function.
    The Biochemical journal, 2004, May-15, Volume: 380, Issue:Pt 1

    Topics: Amino Acid Substitution; Anemia, Hemolytic, Congenital; Arthrogryposis; Circular Dichroism; Codon; F

2004
Mutations in fast skeletal troponin I, troponin T, and beta-tropomyosin that cause distal arthrogryposis all increase contractile function.
    FASEB journal : official publication of the Federation of American Societies for Experimental Biology, 2007, Volume: 21, Issue:3

    Topics: Actins; Amino Acid Substitution; Animals; Arginine; Arthrogryposis; Calcium; Glycine; Humans; Muscle

2007