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Adult neuronal ceroid lipofuscinosis caused by deficiency in palmitoyl protein thioesterase 1.

Neurology - 30 Jan 2007

Ramadan H, Al-Din A S, Ismail A, Balen F, Varma A, Twomey A, Watts R, Jackson M, Anderson G, Green E, Mole S E

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PMID: 17261688
DOI: 10.1212/01.wnl.0000252825.85947.2f

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Related research

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Adult neuronal ceroid lipofuscinosis caused by deficiency in palmitoyl protein thioesterase 1.PMID 17261688Read ↗

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

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

Neuronal ceroid lipofuscinoses caused by defects in soluble lysosomal enzymes (CLN1 and CLN2).Semantic proximity Read ↗

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

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Identifying cellular pathways modulated by Drosophila palmitoyl-protein thioesterase 1 function.Semantic proximity Read ↗

The neuronal ceroid-lipofuscinoses.Semantic proximity Read ↗

Palmitoyl-protein thioesterase 1 deficiency in Drosophila melanogaster causes accumulation of abnormal storage material and reduced life span.Semantic proximity Read ↗

Mouse models of neuronal ceroid lipofuscinoses: Useful pre-clinical tools to delineate disease pathophysiology and validate therapeuticsSemantic 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 ↗

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

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

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