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Ceroid-Lipofuscinosis, Neuronal 8 (Epilepsy, Progressive with Mental Retardation) (CLN8) ELISA Kits

CLN8 encodes a transmembrane protein belonging to a family of proteins containing TLC domains, which are postulated to function in lipid synthesis, transport, or sensing. Additionally we are shipping Ceroid-Lipofuscinosis, Neuronal 8 (Epilepsy, Progressive with Mental Retardation) Antibodies (39) and and many more products for this protein.

list all ELISA KIts Gene Name GeneID UniProt
Anti-Mouse CLN8 CLN8 26889 Q9QUK3
Anti-Human CLN8 CLN8 2055 Q9UBY8
Anti-Rat CLN8 CLN8 306619 Q6AYM9
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More ELISA Kits for Ceroid-Lipofuscinosis, Neuronal 8 (Epilepsy, Progressive with Mental Retardation) Interaction Partners

Mouse (Murine) Ceroid-Lipofuscinosis, Neuronal 8 (Epilepsy, Progressive with Mental Retardation) (CLN8) interaction partners

  1. This study demonistrated that Selective spatiotemporal patterns of glial activation and neuron loss in the sensory thalamocortical pathways in neuronal ceroid lipofuscinosis (show CLN6 ELISA Kits) 8 decifiency mice.

  2. The amount of myelin was reduced in 1-month-old Cln8(mnd) mice, but reached normal levels by 5 months of age. The level of Cln8 gene expression followed the developmental pattern of myelin formation and was high in primary oligodendrocytes.

  3. This study demonistrated that the changes in glutamate (show GRIN1 ELISA Kits) receptor expression in the hippocampus of the mnd mouse.

  4. Mutations in mouse CLN8 gene show marked deficiency of mitochondrial Ca2 (show CA2 ELISA Kits)+ clearance in Cln8mnd neurons, and the heightened vulnerability of these neurons to excitotoxic effects of glutamate (show GRIN1 ELISA Kits).

  5. The mnd mouse mutation in CLN8 leads to progressive behavioral abnormalities prior to the onset of gross motor symptoms, linking the mutation via pathology to a quantifiable behavioral phenotype.

  6. A marked increase in astroglial and microglial cells, and in TNF (show TNF ELISA Kits) receptor TNFR-I (show TNFRSF1A ELISA Kits) immunoreactivity was observed in the spinal cord of motor neuron degeneration mutation (mnd) mice at the age of 4 month.

  7. Mutations in the CLN8 gene underlie Northern epilepsy and a subset of Turkish variant late infantile NCL (show NCL ELISA Kits). Inducing disease mutations in a mouse hippocampal neuronal cell line did not affect localization of CLN8.

  8. Expression of Cln8 in the developing and mature brain suggests roles for Cln8 in maturation, differentiation and supporting the survival of different neuronal populations.

Human Ceroid-Lipofuscinosis, Neuronal 8 (Epilepsy, Progressive with Mental Retardation) (CLN8) interaction partners

  1. This study does not support a contribution of rare missense CLN8 variations to ASD (show ARSD ELISA Kits) susceptibility in the Japanese population.

  2. This study highlights a close interaction between CLN5 (show CLN5 ELISA Kits)/CLN8 proteins, and their role in sphingolipid metabolism. Our findings suggest that CLN5p/CLN8p most likely are positive modulators of CerS1 (show CERS1 ELISA Kits) and/or CerS2 (show CERS2 ELISA Kits).

  3. A missense mutation at the CLN8 gene (763C>G)has been identified in 3 consanguineous Israeli-Arab patients. The phenotype in 2 of them is milder than that of their cousin who has typical neuronal ceroid lipofuscinosis (show CLN6 ELISA Kits).

  4. CLN8 is a candidate modifier gene for GD1. Increased expression may protect against severe GD1.It may function as a protective sphingolipid sensor and/or in glycosphingolipid trafficking.

  5. a novel, large CLN8 gene deletion c.544-2566_590del2613 in a Turkish family with a slightly more severe phenotype of neuronal ceroid lipofuscinose was described.

  6. patients with CLN8 mutations from Italy. In these patients, the onset of epilepsy occurred between 3 and 6 years of age, with myoclonic, tonic-clonic, and atypical absence seizures. Electroencephalograms revealed focal and/or generalized abnormalities.

  7. CLN8 plays a role in cell proliferation during neuronal differentiation and in protection against cell death.

Ceroid-Lipofuscinosis, Neuronal 8 (Epilepsy, Progressive with Mental Retardation) (CLN8) Antigen Profile

Antigen Summary

This gene encodes a transmembrane protein belonging to a family of proteins containing TLC domains, which are postulated to function in lipid synthesis, transport, or sensing. The protein localizes to the endoplasmic reticulum (ER), and may recycle between the ER and ER-Golgi intermediate compartment. Mutations in this gene are associated with progressive epilepsy with mental retardation (EMPR), which is a subtype of neuronal ceroid lipofuscinoses (NCL). Patients with mutations in this gene have altered levels of sphingolipid and phospholipids in the brain.

Gene names and symbols associated with CLN8

  • ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation) (CLN8) antibody
  • ceroid-lipofuscinosis, neuronal 8 (Cln8) antibody
  • ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation) (Cln8) antibody
  • C8orf61 antibody
  • EPMR antibody
  • mnd antibody

Protein level used designations for CLN8

ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation) , protein CLN8 , motor neuron degeneration

GENE ID SPECIES
463962 Pan troglodytes
716441 Macaca mulatta
26889 Mus musculus
2055 Homo sapiens
488558 Canis lupus familiaris
530874 Bos taurus
306619 Rattus norvegicus
100624678 Sus scrofa
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