Page last updated: 2024-11-08

serine and Congenital Myasthenia

serine has been researched along with Congenital Myasthenia in 2 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.

Research Excerpts

ExcerptRelevanceReference
"The slow-channel congenital myasthenic syndrome (SCCMS) is an autosomal dominant neuromuscular disorder caused by mutations in different subunits of the acetylcholine receptor (AChR)."1.37Phenotypic heterogeneity in a large Thai slow-channel congenital myasthenic syndrome kinship. ( Brengman, JM; Dejthevaporn, C; Engel, AG; Pulkes, T; Wetchaphanphesat, S; Witoonpanich, P; Witoonpanich, R; Yodnopklao, P, 2011)

Research

Studies (2)

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

Authors

AuthorsStudies
Witoonpanich, R1
Pulkes, T1
Dejthevaporn, C1
Yodnopklao, P1
Witoonpanich, P1
Wetchaphanphesat, S1
Brengman, JM1
Engel, AG1
Dobransky, T1
Doherty-Kirby, A1
Kim, AR1
Brewer, D1
Lajoie, G1
Rylett, RJ1

Other Studies

2 other studies available for serine and Congenital Myasthenia

ArticleYear
Phenotypic heterogeneity in a large Thai slow-channel congenital myasthenic syndrome kinship.
    Neuromuscular disorders : NMD, 2011, Volume: 21, Issue:3

    Topics: Adult; Aged; Child; Child, Preschool; Family Health; Female; Glycine; Humans; Male; Middle Aged; Mut

2011
Protein kinase C isoforms differentially phosphorylate human choline acetyltransferase regulating its catalytic activity.
    The Journal of biological chemistry, 2004, Dec-10, Volume: 279, Issue:50

    Topics: Amino Acid Sequence; Binding Sites; Catalytic Domain; Cell Line; Choline O-Acetyltransferase; Enzyme

2004