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Article
Open AccessAberrant upregulation of the glycolytic enzyme PFKFB3 in CLN7 neuronal ceroid lipofuscinosis
CLN7 neuronal ceroid lipofuscinosis is an inherited lysosomal storage neurodegenerative disease highly prevalent in children. CLN7/MFSD8 gene encodes a lysosomal membrane glycoprotein, but the biochemical process...
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Article
Open AccessAuthor Correction: Global network analysis in Schizosaccharomyces pombe reveals three distinct consequences of the common 1-kb deletion causing juvenile CLN3 disease
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Article
Open AccessGuidelines on the diagnosis, clinical assessments, treatment and management for CLN2 disease patients
CLN2 disease (Neuronal Ceroid Lipofuscinosis Type 2) is an ultra-rare, neurodegenerative lysosomal storage disease, caused by an enzyme deficiency of tripeptidyl peptidase 1 (TPP1). Lack of disease awareness a...
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Article
Open AccessGlobal network analysis in Schizosaccharomyces pombe reveals three distinct consequences of the common 1-kb deletion causing juvenile CLN3 disease
Juvenile CLN3 disease is a recessively inherited paediatric neurodegenerative disorder, with most patients homozygous for a 1-kb intragenic deletion in CLN3. The btn1 gene is the Schizosaccharomyces pombe ortholo...
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Chapter and Conference Paper
Gene Therapy Approaches to Treat the Neurodegeneration and Visual Failure in Neuronal Ceroid Lipofuscinoses
Neuronal ceroid lipofuscinoses (NCLs) are a group of fatal, inherited lysosomal storage disorders mostly affecting the central nervous system of children. Symptoms include vision loss, seizures, motor deterior...
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Article
Open AccessAnalysis of Potential Biomarkers and Modifier Genes Affecting the Clinical Course of CLN3 Disease
Mutations in the CLN3 gene lead to juvenile neuronal ceroid lipofuscinosis, a pediatric neurodegenerative disorder characterized by visual loss, epilepsy and psychomotor deterioration. Although most CLN3 patients...
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Article
Correlations between genotype, ultrastructural morphology and clinical phenotype in the neuronal ceroid lipofuscinoses
The neuronal ceroid lipofuscinoses (NCLs) are a group of severe neurodegenerative diseases with onset usually in childhood and characterised by the intracellular accumulation of autofluorescent storage materia...
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Article
Epitope map**
This article describes a strategy for the map** of the binding site, or epitope, of a monoclonal antibody (MAb) using bacterially expressed protein products. An overall strategy is discussed. This includes a...
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Article
Germ-line mutations of the RET proto-oncogene in multiple endocrine neoplasia type 2A
MULTIPLE endocrine neoplasia type 2A (MEN 2A) is a dominantly inherited cancer syndrome that affects tissues derived from neural ectoderm. It is characterized by medullary thyroid carcinoma (MTC) and phaeochro...
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Protocol
Epitope Map**
Monoclonal antibodies (MAbs) are specific immunological tools because they bind to a precise determinant (the epitope) on the surface of a protein. The procedure of identifying the binding site of a MAb is oft...
