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Data indicate that ceroid-lipofuscinosis, neuronal 6 protein Cln6(nclf) mutation leads to deficits in motor coordination, vision, memory, and learning.
These findings implicate Cln6 in the survival and maturation of specific neuronal populations during development and make it possible to compare regional Cln6 expression with the distribution of subsequent pathology.
Data show a progressive breakdown of axons and synapses in the brains of two different models of NCL (Montrer NCL Protéines): Ppt1 (Montrer PPT1 Protéines)(-/-) model of infantile NCL (Montrer NCL Protéines) and Cln6(nclf) model of variant late-infantile NCL (Montrer NCL Protéines).
We concluded that alterations in neurite maturation resulting from a loss of CLN6-CRMP-2 (Montrer DPYSL2 Protéines) interaction may contribute to neuronal dysfunction and pathology in vLINCL.
The CLN6 is not only a molecular entity of the anti-aggregate activity conferred by the ER manipulation using TMalphaBC, but also serves as a potential target of therapeutic interventions.
describe the spectrum of clinical and neurophysiologic features associated with mutations of CLN6.
study demonstrates the central role of the metal transporter, Zip7 (Montrer SLC39A7 Protéines), in the aberrant biometal metabolism of CLN6 variants of Neuronal ceroid lipofuscinoses.
The study describes the first report in the North of Morocco of the CLN6 p.I154del mutation in 3 patients belonging to a large consanguineous family.
our results add CLN6 to the genetic mutations causing teenage-onset progressive myoclonus epilepsy
CLN6 and CLN3 mutations trigger distinct processes that converge on a shared pathway, which is responsible for proper subunit c protein turnover and neuronal cell survival.
Sequencing of CLN6 will provide a simple diagnostic strategy in this disorder, in which definitive identification usually requires invasive biopsy.
Expression studies of three mutations found in CLN6 patients predicted to affect transmembrane domain 3, cytoplasmic loop 2 or result in a truncated membrane protein respectively, is reported.
gene mutated in variant late-infantile neuronal ceroid lipofuscinosis (CLN6) and in nclf mutant mice encodes a novel predicted transmembrane protein
novel approximately 36-kD CLN6-gene product augments an intriguing set of unrelated membrane-spanning proteins, whose deficiency causes neuronal ceroid lipofuscinosis in mouse and man
The candidate genes for bovine Neuronal Ceroid Lipofuscinosis, CLN3 (Montrer CLN3 Protéines), CLN5 (Montrer CLN5 Protéines) and CLN6, have been mapped to facilitate linkage analysis in cattle and sheep.
This gene is one of eight which have been associated with neuronal ceroid lipofuscinoses (NCL). Also referred to as Batten disease, NCL comprises a class of autosomal recessive, neurodegenerative disorders affecting children. The genes responsible likely encode proteins involved in the degradation of post-translationally modified proteins in lysosomes. The primary defect in NCL disorders is thought to be associated with lysosomal storage function.
neuronal ceroid lipofuscinosis
, ceroid-lipofuscinosis neuronal protein 6
, ceroid-lipofuscinosis neuronal protein 6 homolog