Page last updated: 2024-11-08

aspartic acid and Gangliosidosis, GM1

aspartic acid has been researched along with Gangliosidosis, GM1 in 3 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.

Gangliosidosis, GM1: An autosomal recessive neurodegenerative disorder caused by the absence or deficiency of BETA-GALACTOSIDASE. It is characterized by intralysosomal accumulation of G(M1) GANGLIOSIDE and oligosaccharides, primarily in neurons of the central nervous system. The infantile form is characterized by MUSCLE HYPOTONIA, poor psychomotor development, HIRSUTISM, hepatosplenomegaly, and facial abnormalities. The juvenile form features HYPERACUSIS; SEIZURES; and psychomotor retardation. The adult form features progressive DEMENTIA; ATAXIA; and MUSCLE SPASTICITY. (From Menkes, Textbook of Child Neurology, 5th ed, pp96-7)

Research Excerpts

ExcerptRelevanceReference
"Background GM1 gangliosidosis is a lysosomal storage disorder caused by mutations in GLB1, encoding β-galactosidase."1.43MRI/MRS as a surrogate marker for clinical progression in GM1 gangliosidosis. ( Adams, D; Baker, EH; Golas, G; Johnston, J; Kwon, HJ; Latour, Y; Portner, C; Regier, DS; Thomas, S; Tifft, CJ; Vezina, G; Wiggs, E; Yang, S, 2016)

Research

Studies (3)

TimeframeStudies, this research(%)All Research%
pre-19900 (0.00)18.7374
1990's0 (0.00)18.2507
2000's2 (66.67)29.6817
2010's1 (33.33)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
Regier, DS1
Kwon, HJ1
Johnston, J1
Golas, G1
Yang, S1
Wiggs, E1
Latour, Y1
Thomas, S1
Portner, C1
Adams, D1
Vezina, G1
Baker, EH1
Tifft, CJ1
Brunetti-Pierri, N1
Bhattacharjee, MB1
Wang, ZJ1
Wenger, DA1
Potocki, L1
Hunter, J1
Scaglia, F1
Zhang, S1
Bagshaw, R1
Hilson, W1
Oho, Y1
Hinek, A1
Clarke, JT1
Callahan, JW1

Other Studies

3 other studies available for aspartic acid and Gangliosidosis, GM1

ArticleYear
MRI/MRS as a surrogate marker for clinical progression in GM1 gangliosidosis.
    American journal of medical genetics. Part A, 2016, Volume: 170, Issue:3

    Topics: Adolescent; Age of Onset; Aspartic Acid; Atrophy; beta-Galactosidase; Cerebellum; Cerebrum; Child; C

2016
Brain proton magnetic resonance spectroscopy and neuromuscular pathology in a patient with GM1 gangliosidosis.
    Journal of child neurology, 2008, Volume: 23, Issue:1

    Topics: Aspartic Acid; Axons; Biomarkers; Brain; Female; Gangliosidosis, GM1; Gliosis; Humans; Infant; Inosi

2008
Characterization of beta-galactosidase mutations Asp332-->Asn and Arg148-->Ser, and a polymorphism, Ser532-->Gly, in a case of GM1 gangliosidosis.
    The Biochemical journal, 2000, Jun-15, Volume: 348 Pt 3

    Topics: Amino Acid Substitution; Animals; Arginine; Asparagine; Aspartic Acid; Base Sequence; beta-Galactosi

2000