Page last updated: 2024-11-08

serine and Giant Axonal Neuropathy

serine has been researched along with Giant Axonal Neuropathy in 1 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.

Giant Axonal Neuropathy: Rare autosomal recessive disorder of INTERMEDIATE FILAMENT PROTEINS. The disease is caused by mutations in the gene that codes gigaxonin protein. The mutations result in disorganization of axonal NEUROFILAMENT PROTEINS, formation of the characteristic giant axons, and progressive neuropathy. The clinical features of the disease include early-onset progressive peripheral motor and sensory neuropathies often associated with central nervous system involvement (INTELLECTUAL DISABILITY, seizures, DYSMETRIA, and CONGENITAL NYSTAGMUS).

Research

Studies (1)

TimeframeStudies, this research(%)All Research%
pre-19900 (0.00)18.7374
1990's0 (0.00)18.2507
2000's0 (0.00)29.6817
2010's0 (0.00)24.3611
2020's1 (100.00)2.80

Authors

AuthorsStudies
Chen, PH1
Hu, J1
Wu, J1
Huynh, DT1
Smith, TJ1
Pan, S1
Bisnett, BJ1
Smith, AB1
Lu, A1
Condon, BM1
Chi, JT1
Boyce, M1

Other Studies

1 other study available for serine and Giant Axonal Neuropathy

ArticleYear
Gigaxonin glycosylation regulates intermediate filament turnover and may impact giant axonal neuropathy etiology or treatment
    JCI insight, 2020, 01-16, Volume: 5, Issue:1

    Topics: Acetylglucosamine; Antigens, Neoplasm; Binding Sites; Cell Line; Cytoskeletal Proteins; Epigenesis,

2020