Cln3‐mutations underlying juvenile neuronal ceroid lipofuscinosis cause significantly reduced levels of Palmitoyl‐protein thioesterases‐1 (Ppt1)‐protein and Ppt1‐enzyme activity in the lysosome
Sign Up to like & getrecommendations! Published in 2019 at "Journal of Inherited Metabolic Disease"
DOI: 10.1002/jimd.12106
Abstract: Mutations in at least 13 different genes (called CLNs) underlie various forms of neuronal ceroid lipofuscinoses (NCLs), a group of the most common neurodegenerative lysosomal storage diseases. While inactivating mutations in the CLN1 gene, encoding… read more here.
Keywords: palmitoyl protein; neuronal ceroid; ceroid; cln3 mutations ... See more keywords
Neuronal ceroid lipofuscinosis type-11 in an adolescent
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DOI: 10.1016/j.braindev.2019.03.004
Abstract: Neuronal ceroid lipofuscinosis (NCL) is a group of progressive neurodegenerative disorders characterized by intracellular accumulation of ceroid lipopigments. Based on gene defect of NCL-associated proteins, 14 types of NCL have been described till date. NCL… read more here.
Keywords: lipofuscinosis type; neuronal ceroid; ceroid; ceroid lipofuscinosis ... See more keywords
Novel in-frame deletion in MFSD8 gene revealed by trio whole exome sequencing in an Iranian affected with neuronal ceroid lipofuscinosis type 7: a case report
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DOI: 10.1186/s13256-018-1788-7
Abstract: BackgroundThe neuronal ceroid lipofuscinoses are a group of neurodegenerative, lysosomal storage disorders. They are inherited as an autosomal recessive pattern with the exception of adult neuronal ceroid lipofuscinosis, which can be inherited in either an… read more here.
Keywords: neuronal ceroid; ceroid; deletion; ceroid lipofuscinosis ... See more keywords
Autophagy in the Neuronal Ceroid Lipofuscinoses (Batten Disease)
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DOI: 10.3389/fcell.2022.812728
Abstract: The neuronal ceroid lipofuscinoses (NCLs), also referred to as Batten disease, are a family of neurodegenerative diseases that affect all age groups and ethnicities around the globe. At least a dozen NCL subtypes have been… read more here.
Keywords: neuronal ceroid; ceroid lipofuscinoses; lipofuscinoses batten; ceroid ... See more keywords