These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
Pubmed for Handhelds
PUBMED FOR HANDHELDS
Search MEDLINE/PubMed
Title: [Batten disease (Neuronal ceroid lipofuscinoses)--accumulation of ATP synthase subunit c caused by the delay of lysosomal degradation]. Author: Ezaki J, Kominami E. Journal: Nihon Rinsho; 1995 Dec; 53(12):3055-61. PubMed ID: 8577058. Abstract: The neuronal ceroid lipofuscinoses (NCLs) represent a group of recessively inherited neurogenerative diseases of infants, children, and young adults that leads to blindness, seizures, dementia, and premature death. These diseases are pathologically characterized by a massive lysosomal storage of autofluorescent lipopigments in neurons and a wide variety of extraneuronal cells. Linkage studies have shown localization of the infantile disease to chromosome region 1p32 the juvenile onset disease to chromosome 16p12.1-p11.2 and a variant form of late infantile form to chromosome 13q21.1-q32. Recently, protein sequencing and immunochemical studies have identified subunit c of the mitochondrial ATP synthase as a major component of the storage material in the late infantile and juvenile types of NCL, and SAPs in infantile type of NCL. Immunolocalization studies demonstrated a dot-like staining of subunit c in the cells with NCL and the staining pattern of subunit c was similar to that of a lysosomal membrane marker, 1gp120. Pulse-chase experiments revealed that a specific failure occurs in the degradation of subunit c in lysosomes whereas its transport into mitochondria and subsequent sequestration into lysosomes are apparently normal.[Abstract] [Full Text] [Related] [New Search]