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Untargeted Metabolite Profiling of Cerebrospinal Fluid Uncovers Biomarkers for Severity of Late Infantile Neuronal Ceroid Lipofuscinosis (CLN2, Batten Disease)
Late infantile neuronal ceroid lipofuscinosis (CLN2 disease) is a rare lysosomal storage disorder caused by a monogenetic deficiency of tripeptidyl peptidase-1 (TPP1). Despite knowledge that lipofuscin is the hallmark disease product, the relevant TPP1 substrate and its role in neuronal physiology/p...
Autores principales: | Sindelar, Miriam, Dyke, Jonathan P., Deeb, Ruba S., Sondhi, Dolan, Kaminsky, Stephen M., Kosofsky, Barry E., Ballon, Douglas J., Crystal, Ronald G., Gross, Steven S. |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Nature Publishing Group UK
2018
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6189193/ https://www.ncbi.nlm.nih.gov/pubmed/30323181 http://dx.doi.org/10.1038/s41598-018-33449-0 |
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