Page last updated: 2024-10-16

adenine and Neuronal Ceroid-Lipofuscinoses

adenine has been researched along with Neuronal Ceroid-Lipofuscinoses in 2 studies

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 neuronal ceroid lipofuscinosis (INCL) is a severe neurodegenerative disorder of the childhood caused by mutations in the gene encoding palmitoyl protein thioesterase 1 (PPT1)."1.33Palmitoyl protein thioesterase 1 (PPT1) deficiency causes endocytic defects connected to abnormal saposin processing. ( Ahtiainen, L; Jalanko, A; Kauppi, M; Kopra, O; Luiro, K; Tyynelä, J, 2006)
"Late infantile neuronal ceroid lipofuscinosis, LINCL, is one of the most common pediatric neurodegenerative disorders."1.30Late infantile neuronal ceroid lipofuscinosis is due to splicing mutations in the CLN2 gene. ( Brown, WT; Hartikainen, JM; Ju, W; Kaczmarski, AL; McLendon, L; Moroziewicz, DN; Suarez, CT; Wisniewski, KE; Zhong, D; Zhong, N, 1999)

Research

Studies (2)

TimeframeStudies, this research(%)All Research%
pre-19900 (0.00)18.7374
1990's1 (50.00)18.2507
2000's1 (50.00)29.6817
2010's0 (0.00)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
Ahtiainen, L1
Luiro, K1
Kauppi, M1
Tyynelä, J1
Kopra, O1
Jalanko, A1
Hartikainen, JM1
Ju, W1
Wisniewski, KE1
Moroziewicz, DN1
Kaczmarski, AL1
McLendon, L1
Zhong, D1
Suarez, CT1
Brown, WT1
Zhong, N1

Other Studies

2 other studies available for adenine and Neuronal Ceroid-Lipofuscinoses

ArticleYear
Palmitoyl protein thioesterase 1 (PPT1) deficiency causes endocytic defects connected to abnormal saposin processing.
    Experimental cell research, 2006, May-15, Volume: 312, Issue:9

    Topics: Adenine; Animals; Cell Line; CHO Cells; Cricetinae; Cricetulus; Dextrans; Endocytosis; Fibroblasts;

2006
Late infantile neuronal ceroid lipofuscinosis is due to splicing mutations in the CLN2 gene.
    Molecular genetics and metabolism, 1999, Volume: 67, Issue:2

    Topics: Adenine; Aminopeptidases; Child; Child, Preschool; Dipeptidyl-Peptidases and Tripeptidyl-Peptidases;

1999