anti-Gap Junction Protein, gamma 2, 47kDa (GJC2) Antikörper

Mouse (Murine) Gap Junction Protein, gamma 2, 47kDa (GJC2) Interaktionspartner

1. Main findings are that i) Cx47 is involved in the reversal of acute increases in serum triglycerides, ii) serum lipid levels of mice on chow but not high-cholesterol diet are affected by Cx47 and iii) Cx47-deficiency tends to increase plaque size but decreases macrophage content of diet-induced atherosclerotic plaques. Results show that Cx47-deficient mice do not display an overt lymphatic phenotype.

2. Data show that segregation of Foxc2 (zeige FOXC2 Antikörper) and NFATc1 (zeige NFATC1 Antikörper) transcription factor is closely associated with the highly polarized expression of connexins Cx37 (zeige GJA4 Antikörper), Cx43 (zeige GJA1 Antikörper), and Cx47.

3. This study demonistrated that Cx30 (zeige GJB6 Antikörper)/Cx47 double-deficient mice has the functional role of both connexins for interastrocytic, interoligodendrocytic, and panglial coupling, and show that both connexins are required for maintenance of myelin.

4. PMLD1 (Pelizaeus-Merzbacher-like disease 1) is caused by the loss of Cx47 channel function that results in impaired panglial coupling in white matter tissue.

5. oligodendrocyte-astrocyte gap junction coupling in Cx32 (zeige GJB1 Antikörper) or Cx47 knockout mice. In the neocortex, oligodendrocytes appeared to be directly and exclusively coupled to astrocytes; Cx47, but not Cx32 (zeige GJB1 Antikörper), was required for O:A coupling.

6. oligodendrocytes in white matter form a functional syncytium predominantly among each other dependent on Cx47 and Cx32 (zeige GJB1 Antikörper) expression, while astrocytic connexins expression can promote the size of this network

7. Cx47-deficient mice revealed a vacuolation of nerve fibers at the site of the optic nerve where axons are first contacted by oligodendrocytes and myelination starts; Cx32 (zeige GJB1 Antikörper)/Cx47-double-deficient mice developed action tremor and died ca 51 d after birth

8. Mice lacking either Cx47 or Cx32 (zeige GJB1 Antikörper) are viable but mice lacking both connexins die by postnatal week 6 from CNS myelin sheath abnormalities, vacuolation, enlarged periaxonal collars, oligodendrocyte cell death, and axonal loss

9. All oligodendrocytes appear to express Cx47, which is largely restricted to their perikarya

10. These results demonstrate MUPP1 (zeige MPDZ Antikörper) at O/A gap junctions and Cx47-dependent targeting of connexins to the plasma membranes of oligodendrocyte somata.

Human Gap Junction Protein, gamma 2, 47kDa (GJC2) Interaktionspartner

1. Different mutations in the Cx47 lead to discrepant activation of unfolded protein response (UPR) pathway, which encouraged apoptotic cell death at different levels. Inappropriate activation of UPR may play important roles in the pathophysiology of Pelizaeus-Merzbacher-Like Disease.

2. GJC2 promoter region mutation screening should be included in the evaluation of patients with unexplained hypomyelinating leukodystrophies.

3. we provide evidence that a mutation in GJA1 (zeige GJA1 Antikörper) leads not only to ODD as already described in the literature, but can also lead to lymphoedema as an associated feature.

4. a novel homozygous mutation in GJC2 was identified in a 21-year-old female patient with Pelizaeus-Merzbacher-like disease

5. This study identified novel chromosomal rearrangements proximal and distal to, and exclusive of the PLP1 (zeige PLP1 Antikörper) gene, showed equal frequencies of PLP1 (zeige PLP1 Antikörper) and GJA12/GJC2 mutations

6. Most of the Pelizaeus-Merzbacher-like disease (PMLD)-linked Cx47 mutants disrupt Cx47/Cx47 and Cx47/Cx43 (zeige GJA1 Antikörper) GJ function in the glial network, which may play a role in leading to PMLD symptoms

7. the extremely severe clinical Pelizaeus-Merzbacher-like disease form likely correlates with the predicted impairment of gap junction channel assembly resulting from the detrimental effect of the new p.Glu260Lys mutant allele on Cx47 protein

8. founder mutation c.-167A>G localized in the GJC2 protein promoter region in patients with Pelizaeus Merzbacher disease and Pelizaeus Merzbacher like disease

9. Cx47 mutations were identified in individuals having secondary lymphedema following breast cancer treatment; these novel mutations are dysfunctional and provide evidence that altered gap junction function leads to lymphedema

10. We report the identification of the GJC2 promoter mutation (c.-167A>G) in nine patients from three unrelated Pakistani families with Pelizaeus-Merzbacher-like disease. Linkage analysis was consistent with a likely founder effect of this mutation

Cow (Bovine) Gap Junction Protein, gamma 2, 47kDa (GJC2) Interaktionspartner

1. AQP-0 (zeige MIP Antikörper) and connexins can be segregated in the membrane by protein-lipid interactions as modified by AQP-0 (zeige MIP Antikörper) homo-oligomerization