Article ; Online: Current Insights in Elucidation of Possible Molecular Mechanisms of the Juvenile Form of Batten Disease.
International journal of molecular sciences
2020 Volume 21, Issue 21
Abstract: The neuronal ceroid lipofuscinoses (NCLs) collectively constitute one of the most common forms of inherited childhood-onset neurodegenerative disorders. They form a heterogeneous group of incurable lysosomal storage diseases that lead to blindness, motor ...
Abstract | The neuronal ceroid lipofuscinoses (NCLs) collectively constitute one of the most common forms of inherited childhood-onset neurodegenerative disorders. They form a heterogeneous group of incurable lysosomal storage diseases that lead to blindness, motor deterioration, epilepsy, and dementia. Traditionally the NCL diseases were classified according to the age of disease onset (infantile, late-infantile, juvenile, and adult forms), with at least 13 different NCL varieties having been described at present. The current review focuses on classic juvenile NCL (JNCL) or the so-called Batten (Batten-Spielmeyer-Vogt; Spielmeyer-Sjogren) disease, which represents the most common and the most studied form of NCL, and is caused by mutations in the |
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MeSH term(s) | Animals ; Child ; Humans ; Membrane Proteins/genetics ; Membrane Proteins/metabolism ; Molecular Chaperones/metabolism ; Mutation ; Neuronal Ceroid-Lipofuscinoses/physiopathology |
Chemical Substances | Membrane Proteins ; Molecular Chaperones |
Language | English |
Publishing date | 2020-10-29 |
Publishing country | Switzerland |
Document type | Journal Article ; Review |
ZDB-ID | 2019364-6 |
ISSN | 1422-0067 ; 1422-0067 ; 1661-6596 |
ISSN (online) | 1422-0067 |
ISSN | 1422-0067 ; 1661-6596 |
DOI | 10.3390/ijms21218055 |
Database | MEDical Literature Analysis and Retrieval System OnLINE |
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