Identification of a de novo insertional mutation i...[Hum Mol Genet. 1994]

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1: Hum Mol Genet. 1994 Sep;3(9):1701-2. Links

Identification of a de novo insertional mutation in P0 in a patient with a Déjérine-Sottas syndrome (DSS) phenotype.

Institute for Human Genetics, University of Erlangen, Germany.

PMID: 7530550 [PubMed - indexed for MEDLINE]

Curcumin treatment abrogates endoplasmic reticulum retention and aggregation-induced apoptosis associated with neuropathy-causing myelin protein zero-truncating mutants.
Khajavi M, Inoue K, Wiszniewski W, Ohyama T, Snipes GJ, Lupski JR. Am J Hum Genet. 2005 Nov; 77(5):841-50. Epub 2005 Sep 30.

[Am J Hum Genet. 2005]
Tracing myelin protein zero (P0) in vivo by construction of P0-GFP fusion proteins.
Ekici AB, Oezbey S, Fuchs C, Nelis E, Van Broeckhoven C, Schachner M, Rautenstrauss B. BMC Cell Biol. 2002 Nov 26; 3:29. Epub 2002 Nov 26.

[BMC Cell Biol. 2002]
Steroid responsive polyneuropathy in a family with a novel myelin protein zero mutation.
Donaghy M, Sisodiya SM, Kennett R, McDonald B, Haites N, Bell C. J Neurol Neurosurg Psychiatry. 2000 Dec; 69(6):799-805.

[J Neurol Neurosurg Psychiatry. 2000]
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