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PMP22 encodes an integral membrane protein that is a major component of myelin in the peripheral nervous system. Additionally we are shipping PMP22 Antibodies (96) and PMP22 Proteins (8) and many more products for this protein.
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The results of this study indicated that an adequate pmp22 transcription level is necessary for correct myelination of jawed vertebrates.
The studies implicating GAS3 protein family (EMP1, EMP2, EMP3 (show EMP3 ELISA Kits) and PMP22) in cancer pathogenesis as well as probe the structural similarities between the family members were highlighted.
A Computational Approach to Identify a Potential Alternative Drug With Its Positive Impact Toward PMP22.
Exome sequencing identified MFN2 (show MFN2 ELISA Kits) SNVs in two of the individuals. Neuropathy-associated CNV outside of the PMP22 locus is rare in Charcot-Marie-Tooth (CMT) disease . Nevertheless, there is potential clinical utility in testing for CNVs and exome sequencing in CMT cases negative for the CMT1A duplication.
We discovered that Tead1 (show TEAD1 ELISA Kits) and co-activators Yap (show YAP1 ELISA Kits) and Taz (show TAZ ELISA Kits) are required for Pmp22 expression, as well as for the expression of Egr2 (show EGR2 ELISA Kits) Tead1 (show TEAD1 ELISA Kits) directly binds Pmp22 and Egr2 (show EGR2 ELISA Kits) enhancers early in development and Tead1 (show TEAD1 ELISA Kits) binding is induced during myelination, correlating with Pmp22 expression. The data identify Tead1 (show TEAD1 ELISA Kits) as a novel regulator of Pmp22 expression during development in concert with Sox10 (show SOX10 ELISA Kits) and Egr2 (show EGR2 ELISA Kits)
This study demonstrated We show that blink (show TGFb ELISA Kits) reflex studies are reliable for identification of inherited demyelinating polyneuropathy (with pmp22 mutation) regardless of severity and can facilitate algorithmic decisions in genetic testing.
Findings suggest that miR (show MLXIP ELISA Kits)-200bc/429 inhibit OS cells proliferation and invasion by targeting PMP22, and function as a tumor suppressor.
PMP22 deletion leads to functional, metabolic and macro-structural alterations in the afferent visual system of hereditary neuropathy with liability to pressure palsies patients.
we report molecular and clinical characterizations of six subjects with the reciprocal phenomenon of deletions spanning both genes, i.e., PMP22-RAI1 (show DOM3Z ELISA Kits) deletions. Systematic clinical studies revealed features consistent with SMS (show SMS ELISA Kits), including features of intellectual disability, speech and gross motor delays, behavioral problems and ocular abnormalities.
Data suggest that the father has carried the same duplication of the peripheral myelin protein 22 (PMP22) gene but with no detectable symptom may be due to irregular transmission pattern of the mutation.
our data suggest that an alteration of mRNA processing could be a pathogenic mechanism in CMT1A.
The basal lamina and PMP22 act in concert to contribute to a resilience and integrity of peripheral nerves at the single fibre level.
A role was identified for PMP22 in the linkage of the actin cytoskeleton with the plasma membrane.
This study demonistrated that Paranodal dysmyelination in peripheral nerves of Trembler mice.
This study showed that a number of ongoing pathogenic mechanisms contribute to the progression of the neuropathy in C22 mice, which initiates with abnormal expression of PMP22.
Pxmp2 in the mammary fat pad is plays a critical role in stromal lipid homeostasis and in development of mammary gland epithelium in mice
This study revealed a novel mechanism by which PMP22 deficiency affects nerve conduction not through removal of myelin, but through disruption of myelin junctions
This study showed that mouse PMP22 is palmitoylated at C85 and mutating C85S abolishes PMP22 palmitoylation.
Peripheral myelin protein 22 (PMP22) performs distinct actions on the formation, maturation, degeneration and regeneration of sciatic nerve myelin sheath.
Egr2 (show EGR2 ELISA Kits) and Sox10 (show SOX10 ELISA Kits) activity are directly involved in mediating the developmental induction of Pmp22 expression through an intronic enhancer.
This gene encodes an integral membrane protein that is a major component of myelin in the peripheral nervous system. Various mutations of this gene are causes of Charcot-Marie-Tooth disease Type IA, Dejerine-Sottas syndrome, and hereditary neuropathy with liability to pressure palsies. Alternative splicing of this gene results in three transcript variants that encode the same protein.
peripheral myelin protein 22
, growth arrest-specific protein 3
, SR13 myelin protein
, schwann cell membrane glycoprotein
, peripheral myelin protein, 22 kDa
, PAS positive glycoprotein
, 22 kDa peroxisomal membrane protein
, peroxisomal membrane protein 2, 22 kDa