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CLN6 is one of eight which have been associated with neuronal ceroid lipofuscinoses (NCL). Additionally we are shipping Ceroid-Lipofuscinosis, Neuronal 6, Late Infantile, Variant Antibodies (36) and many more products for this protein.
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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 (show NCL Proteins): Ppt1 (show PPT1 Proteins)(-/-) model of infantile NCL (show NCL Proteins) and Cln6(nclf) model of variant late-infantile NCL (show NCL Proteins).
We concluded that alterations in neurite maturation resulting from a loss of CLN6-CRMP-2 (show DPYSL2 Proteins) interaction may contribute to neuronal dysfunction and pathology in vLINCL.
describe the spectrum of clinical and neurophysiologic features associated with mutations of CLN6.
study demonstrates the central role of the metal transporter, Zip7 (show SLC39A7 Proteins), 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 (show CLN3 Proteins) mutations trigger distinct processes that converge on a shared pathway, which is responsible for proper subunit c protein (show HNRNPC Proteins) 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
Eight novel mutations identified in CLN6 in 26 families with late infantile neuronal ceroid lipofuscinosis.
The candidate genes for bovine Neuronal Ceroid Lipofuscinosis, CLN3 (show CLN3 Proteins), CLN5 (show CLN5 Proteins) 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