Page last updated: 2024-11-08

aspartic acid and Niemann-Pick Disease, Type C

aspartic acid has been researched along with Niemann-Pick Disease, Type C in 2 studies

Aspartic Acid: One of the non-essential amino acids commonly occurring in the L-form. It is found in animals and plants, especially in sugar cane and sugar beets. It may be a neurotransmitter.
aspartic acid : An alpha-amino acid that consists of succinic acid bearing a single alpha-amino substituent
L-aspartic acid : The L-enantiomer of aspartic acid.

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 (2)

TimeframeStudies, this research(%)All Research%
pre-19900 (0.00)18.7374
1990's0 (0.00)18.2507
2000's0 (0.00)29.6817
2010's2 (100.00)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
Sedel, F1
Chabrol, B1
Audoin, B1
Kaphan, E1
Tranchant, C1
Burzykowski, T1
Tourbah, A1
Vanier, MT1
Galanaud, D1
Totenhagen, JW1
Yoshimaru, ES1
Erickson, RP1
Trouard, TP1

Other Studies

2 other studies available for aspartic acid and Niemann-Pick Disease, Type C

ArticleYear
Normalisation of brain spectroscopy findings in Niemann-Pick disease type C patients treated with miglustat.
    Journal of neurology, 2016, Volume: 263, Issue:5

    Topics: 1-Deoxynojirimycin; Adolescent; Adult; Aspartic Acid; Brain; Choline; Disability Evaluation; Disease

2016
(1) H magnetic resonance spectroscopy of neurodegeneration in a mouse model of niemann-pick type C1 disease.
    Journal of magnetic resonance imaging : JMRI, 2013, Volume: 37, Issue:5

    Topics: Animals; Aspartic Acid; Biomarkers; Brain; Choline; Magnetic Resonance Spectroscopy; Mice; Mice, Inb

2013