Abstract
Molecular genetic studies have established that mutations in the gene encoding the 22-kDa peripheral myelin protein (PMP-22) are responsible for hereditary peripheral neuropathies in the trembler mouse and in a subset of humans with Charcot-Marie-Tooth disease, type 1a. The function of the PMP-22 protein remains unknown. Several studies on myelin proteins in the PNS have indicated that the L2/HNK-1 epitope, which is believed to be both a ligand for cellular adhesion and a target for autoimmune monoclonal IgM neuritis, may be found on heretofore unidentified proteins with a molecular mass of 19-28 kDa. In this report, we provide immunological evidence that at least one of these proteins is PMP-22.
Publication types
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Research Support, Non-U.S. Gov't
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Research Support, U.S. Gov't, P.H.S.
MeSH terms
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Amino Acid Sequence
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Antibodies
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Antigens, CD / chemistry*
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Antigens, CD / immunology
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Antigens, Differentiation, T-Lymphocyte / chemistry*
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Antigens, Differentiation, T-Lymphocyte / immunology
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Blotting, Western
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CD57 Antigens
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Cauda Equina / chemistry*
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Electrophoresis, Polyacrylamide Gel
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Epitopes / analysis*
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Humans
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Molecular Sequence Data
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Molecular Weight
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Myelin Proteins / chemistry*
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Myelin Proteins / immunology
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Myelin Proteins / isolation & purification
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Myelin Sheath / chemistry
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Peptides / chemical synthesis
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Peptides / immunology
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Peripheral Nerves / chemistry*
Substances
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Antibodies
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Antigens, CD
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Antigens, Differentiation, T-Lymphocyte
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CD57 Antigens
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Epitopes
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Myelin Proteins
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PMP22 protein, human
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Peptides
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Pmp22 protein, mouse