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CLN6 deficiency causes selective changes in the lysosomal protein composition [PDF]
Proteomics, 2021 Abstract Neuronal ceroid lipofuscinoses (NCLs) collectively account for the highest prevalence of inherited neurodegenerative diseases in childhood. This disease group is classified by the deposition of similar autofluorescence storage material in lysosomes that is accompanied by seizures, blindness and premature ...
Marc Sylvester, Markus Damme
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A CLN6-CLN8 complex recruits lysosomal enzymes at the ER for Golgi transfer [PDF]
Journal of Clinical Investigation, 2020 Lysosomal enzymes are synthesized in the endoplasmic reticulum (ER) and transferred to the Golgi complex by interaction with the Batten disease protein CLN8 (ceroid lipofuscinosis, neuronal, 8). Here we investigated the relationship of this pathway with CLN6, an ER-associated protein of unknown function that is defective in a different Batten disease ...
Marco Sardiello +2 more
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An altered secretome is an early marker of the pathogenesis of CLN6 Batten disease [PDF]
Journal of Neurochemistry, 2021 AbstractNeuronal ceroid lipofuscinoses (NCLs) are a group of inherited childhood neurodegenerative disorders. In addition to the accumulation of auto‐fluorescent storage material in lysosomes, NCLs are largely characterised by region‐specific neuroinflammation that can predict neuron loss.
Hannah Best +2 more
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Identification of CLN6 as a molecular entity of endoplasmic reticulum-driven anti-aggregate activity [PDF]
Biochemical and Biophysical Research Communications, 2017 αB-crystallin (αBC) is a small heat shock protein. Mutations in the αBC gene are linked to α-crystallinopathy, a hereditary myopathy histologically characterized by intracellular accumulation of protein aggregates. The disease-causing R120G αBC mutant, harboring an arginine-to-glycine replacement at position 120, is an aggregate-prone protein.
Tetsuo Yamazaki
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Biomedical Research, 2021 CLN6 (Ceroid Lipofuscinosis, Neuronal, 6) is a 311-amino acid protein spanning the endoplasmic reticulum membrane. Mutations in CLN6 are linked to CLN6 disease, a hereditary neurodegenerative disorder categorized into the neuronal ceroid lipofuscinoses.
Tetsuo Yamazaki, Kana Watanabe
exaly +4 more sources
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CLN6, which is associated with a lysosomal storage disease, is an endoplasmic reticulum protein
Experimental Cell Research, 2004The neuronal ceroid lipofuscinoses (NCLs) are severe inherited neurodegenerative disorders affecting children. In this disease, lysosomes accumulate autofluorescent storage material and there is death of neurons. Five types of NCL are caused by mutations in lysosomal proteins (CTSD, CLN1/PPT1, CLN2/TTPI, CLN3 and CLN5), and one type is caused by ...
Daniel Cutler +2 more
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Fine mapping of ovine ceroid lipofuscinosisconfirms orthology with CLN6
European Journal of Paediatric Neurology, 2001The neuronal ceroid lipofuscinoses (NCLs) are lysosomal storage diseases with severe neurodegenerative pathology. An ovine model (OCL) has well defined parallels with the human disease at a biochemical and pathological level. The gene for OCL is located in the chromosomal region OAR 7q13-15. This region is syntenic with HSA 15q21-23 suggesting that OCL
M F, Broom, C, Zhou
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CLN6 disease caused by the same mutation originating in Pakistan has varying pathology
European Journal of Paediatric Neurology, 2013 The neuronal ceroid lipofuscinoses (NCLs), the most common neurodegenerative diseases in children, are characterised by storage of autofluorescent material that has a characteristic ultrastructure. We report two families with variant late infantile NCL, both originating from Pakistan. Probands from both families were homozygous for the same mutation (c.
Rita Guerreiro +2 more
exaly +3 more sources