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Biochemical analysis of mutations in palmitoyl-protein thioesterase causing infantile and late-onset forms of neuronal ceroid lipofuscinosis
A. K. Das, J. Y. Lu,
S. L. Hofmann
Radiation Oncology
Molecular Genetics
Hematology & Oncology
Internal Medicine
Research output
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Article
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peer-review
51
Scopus citations
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Medicine & Life Sciences
palmitoyl-protein thioesterase
100%
Neuronal Ceroid-Lipofuscinoses
80%
Mutation
31%
Enzymes
30%
Ceroid lipofuscinosis, neuronal 1, infantile
24%
COS Cells
16%
Mutant Proteins
14%
Missense Mutation
14%
N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase
13%
mannose-6-phosphate
10%
IGF Type 2 Receptor
9%
Sf9 Cells
9%
Hexosaminidases
9%
Acetylglucosamine
9%
Palmitates
8%
Nonsense Codon
7%
Methionine
7%
Codon
6%
Recombinant Proteins
6%
Endoplasmic Reticulum
6%
Neurodegenerative Diseases
6%
Phosphotransferases
5%
X-Rays
5%
Phenotype
4%
Messenger RNA
3%
Child
3%
Genes
2%