Page last updated: 2024-11-08

serine and Niemann-Pick Disease, Type C

serine has been researched along with Niemann-Pick Disease, Type C 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.

Niemann-Pick Disease, Type C: An autosomal recessive lipid storage disorder that is characterized by accumulation of CHOLESTEROL and SPHINGOMYELINS in cells of the VISCERA and the CENTRAL NERVOUS SYSTEM. Type C (or C1) and type D are allelic disorders caused by mutation of the NPC1 gene, which encodes a protein that mediates intracellular cholesterol transport from LYSOSOMES. Clinical signs include hepatosplenomegaly and chronic neurological symptoms. Type D is a variant in people with a Nova Scotia ancestry.

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's1 (100.00)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
Maekawa, M1
Jinnoh, I1
Matsumoto, Y1
Narita, A1
Mashima, R1
Takahashi, H1
Iwahori, A1
Saigusa, D1
Fujii, K1
Abe, A1
Higaki, K1
Yamauchi, S1
Ozeki, Y1
Shimoda, K1
Tomioka, Y1
Okuyama, T1
Eto, Y1
Ohno, K1
T Clayton, P1
Yamaguchi, H1
Mano, N1

Other Studies

1 other study available for serine and Niemann-Pick Disease, Type C

ArticleYear
Structural Determination of Lysosphingomyelin-509 and Discovery of Novel Class Lipids from Patients with Niemann-Pick Disease Type C.
    International journal of molecular sciences, 2019, Oct-10, Volume: 20, Issue:20

    Topics: Biomarkers; Female; Humans; Lipids; Male; Niemann-Pick Disease, Type C; Phosphorylcholine; Serine; T

2019