Page last updated: 2024-11-08

serine and Muscle Disorders

serine has been researched along with Muscle Disorders in 6 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
"A defect of the gene for p94 (calpain 3), a skeletal muscle-specific calpain, is responsible for limb girdle muscular dystrophy type 2A (LGMD2A), or 'calpainopathy', which is an autosomal recessive and progressive neuromuscular disorder."7.70Myopathy phenotype of transgenic mice expressing active site-mutated inactive p94 skeletal muscle-specific calpain, the gene product responsible for limb girdle muscular dystrophy type 2A. ( Arahata, K; Fukuda, R; Hata, S; Hayashi, Y; Ishiura, S; Karasuyama, H; Katsui, Y; Nakagawa, M; Nonaka, I; Ono, Y; Seyama, Y; Sorimachi, H; Suzuki, K; Tagawa, K; Taya, C; Toyama-Sorimachi, N; Yonekawa, H, 2000)
"A defect of the gene for p94 (calpain 3), a skeletal muscle-specific calpain, is responsible for limb girdle muscular dystrophy type 2A (LGMD2A), or 'calpainopathy', which is an autosomal recessive and progressive neuromuscular disorder."3.70Myopathy phenotype of transgenic mice expressing active site-mutated inactive p94 skeletal muscle-specific calpain, the gene product responsible for limb girdle muscular dystrophy type 2A. ( Arahata, K; Fukuda, R; Hata, S; Hayashi, Y; Ishiura, S; Karasuyama, H; Katsui, Y; Nakagawa, M; Nonaka, I; Ono, Y; Seyama, Y; Sorimachi, H; Suzuki, K; Tagawa, K; Taya, C; Toyama-Sorimachi, N; Yonekawa, H, 2000)

Research

Studies (6)

TimeframeStudies, this research(%)All Research%
pre-19900 (0.00)18.7374
1990's0 (0.00)18.2507
2000's5 (83.33)29.6817
2010's0 (0.00)24.3611
2020's1 (16.67)2.80

Authors

AuthorsStudies
Malila, Y1
Thanatsang, KV1
Sanpinit, P1
Arayamethakorn, S1
Soglia, F1
Zappaterra, M1
Bordini, M1
Sirri, F1
Rungrassamee, W1
Davoli, R1
Petracci, M1
Kirschner, J1
Brune, T1
Wehnert, M1
Denecke, J1
Wasner, C1
Feuer, A1
Marquardt, T1
Ketelsen, UP1
Wieacker, P1
Bönnemann, CG1
Korinthenberg, R1
Lobrinus, JA1
Schorderet, DF1
Payot, M1
Jeanrenaud, X1
Bottani, A1
Superti-Furga, A1
Schlaepfer, J1
Fromer, M1
Jeannet, PY1
Horváth, R1
Schoser, BG1
Müller-Höcker, J1
Völpel, M1
Jaksch, M1
Lochmüller, H1
Berciano, J1
Gallardo, E2
Domínguez-Perles, R1
García, A1
García-Barredo, R1
Combarros, O1
Infante, J1
Illa, I1
Tagawa, K1
Taya, C1
Hayashi, Y1
Nakagawa, M1
Ono, Y1
Fukuda, R1
Karasuyama, H1
Toyama-Sorimachi, N1
Katsui, Y1
Hata, S1
Ishiura, S1
Nonaka, I1
Seyama, Y1
Arahata, K1
Yonekawa, H1
Sorimachi, H1
Suzuki, K1

Other Studies

6 other studies available for serine and Muscle Disorders

ArticleYear
Differential expression patterns of genes associated with metabolisms, muscle growth and repair in Pectoralis major muscles of fast- and medium-growing chickens.
    PloS one, 2022, Volume: 17, Issue:10

    Topics: AMP-Activated Protein Kinases; Animals; Chickens; Matrix Metalloproteinase 14; Muscular Diseases; Pe

2022
p.S143F mutation in lamin A/C: a new phenotype combining myopathy and progeria.
    Annals of neurology, 2005, Volume: 57, Issue:1

    Topics: Blotting, Western; Child; DNA Mutational Analysis; Female; Humans; Lamin Type A; Muscles; Muscular D

2005
Morphological, clinical and genetic aspects in a family with a novel LAMP-2 gene mutation (Danon disease).
    Neuromuscular disorders : NMD, 2005, Volume: 15, Issue:4

    Topics: Adolescent; Adult; Antigens, CD; Biopsy; Cardiomyopathies; Child; DNA Mutational Analysis; Family He

2005
Mutations in mtDNA-encoded cytochrome c oxidase subunit genes causing isolated myopathy or severe encephalomyopathy.
    Neuromuscular disorders : NMD, 2005, Volume: 15, Issue:12

    Topics: Adult; DNA Mutational Analysis; Electron Transport Complex IV; Glutamic Acid; Humans; Immunohistoche

2005
Autosomal-dominant distal myopathy with a myotilin S55F mutation: sorting out the phenotype.
    Journal of neurology, neurosurgery, and psychiatry, 2008, Volume: 79, Issue:2

    Topics: Adipose Tissue; Adult; Aged; Amino Acid Substitution; Atrophy; Biopsy; Chromosome Aberrations; Codon

2008
Myopathy phenotype of transgenic mice expressing active site-mutated inactive p94 skeletal muscle-specific calpain, the gene product responsible for limb girdle muscular dystrophy type 2A.
    Human molecular genetics, 2000, May-22, Volume: 9, Issue:9

    Topics: Animals; Binding Sites; Body Weight; Calpain; Connectin; Cysteine; Female; Immunohistochemistry; Mic

2000