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orotic acid and Neuronal Ceroid-Lipofuscinoses

orotic acid has been researched along with Neuronal Ceroid-Lipofuscinoses in 1 studies

Orotic Acid: An intermediate product in PYRIMIDINE synthesis which plays a role in chemical conversions between DIHYDROFOLATE and TETRAHYDROFOLATE.
orotic acid : A pyrimidinemonocarboxylic acid that is uracil bearing a carboxy substituent at position C-6.

Neuronal Ceroid-Lipofuscinoses: A group of severe neurodegenerative diseases characterized by intracellular accumulation of autofluorescent wax-like lipid materials (CEROID; LIPOFUSCIN) in neurons. There are several subtypes based on mutations of the various genes, time of disease onset, and severity of the neurological defects such as progressive DEMENTIA; SEIZURES; and visual failure.

Research Excerpts

ExcerptRelevanceReference
"Infantile Batten disease is a severe neurodegenerative storage disorder caused by mutations in the human PPT1 (palmitoyl protein thioesterase 1) gene, which encodes a lysosomal hydrolase that removes fatty acids from lipid-modified proteins."1.32pdf1, a palmitoyl protein thioesterase 1 Ortholog in Schizosaccharomyces pombe: a yeast model of infantile Batten disease. ( Cho, SK; Hofmann, SL, 2004)

Research

Studies (1)

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

Authors

AuthorsStudies
Cho, SK1
Hofmann, SL1

Other Studies

1 other study available for orotic acid and Neuronal Ceroid-Lipofuscinoses

ArticleYear
pdf1, a palmitoyl protein thioesterase 1 Ortholog in Schizosaccharomyces pombe: a yeast model of infantile Batten disease.
    Eukaryotic cell, 2004, Volume: 3, Issue:2

    Topics: Amino Acid Sequence; Cloning, Molecular; Gene Deletion; Genetic Complementation Test; Humans; Hydrog

2004