Overloaded endoplasmic reticulum-golgi compartments, a possible pathomechanism of peripheral neuropathies caused by mutations of the peripheral myelin protein PMP22

Journal of Neuroscience

Volumn 18, Issue 2, 1998, Pages 731-740

  D'Urso, Donatella ^a   Prior, Reinhard ^a   Greiner Petter, Regine ^a   Gabreëls Festen, Anneke A W M ^b   Müller, Hans Werner ^a  

^a HEINRICH HEINE UNIVERSITY   (Germany)

^b RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

Cellular sorting; Charcot Marie Tooth disease; Chimeric protein; Myelin; PMP22; Schwann cell; Transfection; Trembler; Trembler J

Indexed keywords

CHIMERIC PROTEIN; MYELIN; MYELIN PROTEIN;

ANIMAL CELL; ARTICLE; CELL MEMBRANE; CELL SELECTION; CELLULAR DISTRIBUTION; ENDOPLASMIC RETICULUM; GENETIC TRANSFECTION; GOLGI COMPLEX; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; HUMAN CELL; INTRACELLULAR TRANSPORT; NONHUMAN; PERIPHERAL NEUROPATHY; POINT MUTATION; PRIORITY JOURNAL; PROTEIN TRANSPORT; RAT; SCHWANN CELL;

EID: 0031972929     PISSN: 02706474     EISSN: None     Source Type: Journal    
DOI: 10.1523/jneurosci.18-02-00731.1998     Document Type: Article

References (5)

1. Adlkofer K, Martini R, Aguzzi A, Zielasek J, Toyka KV, Suter U (1995) Hypermyelination and demyelinating peripheral neuropathy in PMP22-deficient mice. Nat Genet 11:274-280.
2. Baechner D, Liehr T, Hameister H, Altenberger H, Grehel H, Suter U, Rautenstrauss B (1995) Widespread expression of the peripheral myelin protein-22 gene (PMP22) in neural and non-neural tissues during murine development. J Neurosci Res 42:733-741.
3. Cheng SH, Gregory RJ, Marshall J, Paul S, Souza DW, White GA, O'Riordan CR, Smith AE (1990) Defective intracellular transport and processing of CFTR is the molecular basis of most cystic fibrosis. Cell 63:827-834.
4. Suter U, Snipes GJ (1995) Biology and genetics of hereditary motor and sensory neuropathies. Annu Rev Neurosci 18:45-75.
5. Suter U, Moskow JJ, Welcher AA, Snipes GJ, Kosaras B, Sidman RL, Buchberg AM, Shooter EM (1992a) A leucine-to-proline mutation in the putative first transmembrane domain of the 22 kDa peripheral myelin protein in trembler-J mouse. Proc NatI Acad Sci USA 89:4382-4386.