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Article

cDNA and Genomic Cloning of Human Palmitoyl-Protein Thioesterase (PPT), the Enzyme Defective in Infantile Neuronal Ceroid Lipofuscinosis

1 Jun 1996

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 8786130
DOI: 10.1006/geno.1996.0292

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cDNA and Genomic Cloning of Human Palmitoyl-Protein Thioesterase (PPT), the Enzyme Defective in Infantile Neuronal Ceroid LipofuscinosisPMID 8786130Read ↗

Adult neuronal ceroid lipofuscinosis caused by deficiency in palmitoyl protein thioesterase 1.Semantic proximity Read ↗

Human palmitoyl protein thioesterase: evidence for lysosomal targeting of the enzyme and disturbed cellular routing in infantile neuronal ceroid lipofuscinosis.Semantic proximity Read ↗

Molecular genetics of palmitoyl-protein thioesterase deficiency in the U.S.Semantic proximity Read ↗

Regional and cellular neuropathology in the palmitoyl protein thioesterase-1 null mutant mouse model of infantile neuronal ceroid lipofuscinosisSemantic proximity Read ↗

Reversible Cysteine Acylation Regulates the Activity of Human Palmitoyl-Protein Thioesterase 1 (PPT1).Semantic proximity Read ↗

Mutations in the palmitoyl protein thioesterase gene causing infantile neuronal ceroid lipofuscinosis.Semantic proximity Read ↗

Structure of the human palmitoyl-protein thioesterase-2 gene (PPT2) in the major histocompatibility complex on chromosome 6p21.3.Semantic proximity Read ↗

Neuronal trafficking of palmitoyl protein thioesterase provides an excellent model to study the effects of different mutations which cause infantile neuronal ceroid lipofuscinocis.Semantic proximity Read ↗

Infantile neuronal ceroid lipofuscinosis: no longer just a 'Finnish' disease.Semantic proximity Read ↗

Adult neuronal ceroid lipofuscinosis with palmitoyl‐protein thioesterase deficiency: First adult‐onset patients of a childhood diseaseSemantic proximity Read ↗

Proteomics insights into infantile neuronal ceroid lipofuscinosis (CLN1) point to the involvement of cilia pathology in the disease.Semantic proximity Read ↗

Biochemical analysis of mutations in palmitoyl-protein thioesterase causing infantile and late-onset forms of neuronal ceroid lipofuscinosis.Semantic proximity Read ↗

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