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PMP22 gene

Known as: HNPP, Peripheral Myelin Protein 22 Gene, PERIPHERAL MYELIN PROTEIN 22 
This protein plays a role in the maintenance of myelin.
National Institutes of Health

Related topics

Related topics

5 relations
Hereditary liability to pressure palsiesNeurogenesisPMP22 wt AllelePXMP2 gene
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Papers overview

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Highly Cited
2011
Highly Cited
2011
Wnt/β-Catenin Signaling Is an Essential and Direct Driver of Myelin Gene Expression and Myelinogenesis
Wnt/β-catenin signaling plays a major role in the development of the nervous system and contributes to neuronal plasticity… Expand
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Review
2003
Review
2003
Demyelinating and axonal features of Charcot-Marie-Tooth disease with mutations of myelin-related proteins (PMP22, MPZ and Cx32): a clinicopathological study of 205 Japanese patients.
Three genes commonly causing Charcot-Marie-Tooth disease (CMT) encode myelin-related proteins: peripheral myelin protein 22… Expand
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Review
1999
Review
1999
Mutations in the peripheral myelin genes and associated genes in inherited peripheral neuropathies.
The peripheral myelin protein 22 gene (PMP22), the myelin protein zero gene (MPZ, P0), and the connexin 32 gene (Cx32, GJB1) code… Expand
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Highly Cited
1999
Highly Cited
1999
Distal axonopathy in peripheral nerves of PMP22-mutant mice.
A partial duplication of chromosome 17 is associated with Charcot-Marie-Tooth disease type 1A (CMT1A), a demyelinating peripheral… Expand
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Highly Cited
1998
Highly Cited
1998
Correlation between varying levels of PMP22 expression and the degree of demyelination and reduction in nerve conduction velocity in transgenic mice.
Charcot-Marie-Tooth disease type 1A is most commonly caused by a duplication of a 1.5 Mb region of chromosome 17 which includes… Expand
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Highly Cited
1998
Highly Cited
1998
rRNA-targeted fluorescent in situ hybridization analysis of bacterial community structure in river water.
An improved in situ hybridization technique, HNPP-FISH, using 2-hydroxy-3-naphthoic acid 2'-phenylanilide phosphate (HNPP) and… Expand
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Highly Cited
1998
Highly Cited
1998
Overloaded Endoplasmic Reticulum–Golgi Compartments, a Possible Pathomechanism of Peripheral Neuropathies Caused by Mutations of the Peripheral Myelin Protein PMP22
Nonconservative point mutations of the peripheral myelin protein 22 (PMP22) are associated with Charcot-Marie-Tooth type 1A… Expand
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Highly Cited
1997
Highly Cited
1997
Mutational analysis of the MPZ, PMP22 and Cx32 genes in patients of Spanish ancestry with Charcot-Marie-Tooth disease and hereditary neuropathy with liability to pressure palsies
Abstract Charcot-Marie-Tooth disease (CMT) and hereditary neuropathy with liability to pressure palsies (HNPP) are two inherited… Expand
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Highly Cited
1993
Highly Cited
1993
DNA deletion associated with hereditary neuropathy with liability to pressure palsies
Hereditary neuropathy with liability to pressure palsies (HNPP) is an autosomal dominant disorder that causes episodes of focal… Expand
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Highly Cited
1993
Highly Cited
1993
Dejerine–Sottas syndrome associated with point mutation in the peripheral myelin protein 22 (PMP22) gene
Dejerine–Sottas syndrome is a hypertrophic, demyelinating neuropathy which appears to demonstrate autosomal recessive inheritance… Expand
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