A novel LITAF/SIMPLE mutation within a family with a demyelinating form of Charcot–Marie–Tooth disease

Moriwaki, 2001, Mycobacterium bovis bacillus Calmette-Guerin and its cell wall complex induce a novel lysosomal membrane protein, SIMPLE, that bridges the missing link between lipopolysaccharide and p53-inducible gene, LITAF(PIG7), and estrogen-inducible gene, EET-1, J Biol Chem, 276, 23065, 10.1074/jbc.M011660200 Bolcato-Bellemin, 2004, Molecular cloning and characterization of mouse LITAF cDNA: role in the regulation of tumor necrosis factor-alpha (TNF-alpha) gene expression, J Endotoxin Res, 10, 15, 10.1177/09680519040100010201 Mestre-Escorihuela, 2007, Homozygous deletions localize novel tumor suppressor genes in B-cell lymphomas, Blood, 109, 271, 10.1182/blood-2006-06-026500 Wang, 2009, Expression of pig7 gene in acute leukemia and its potential to modulate the chemosensitivity of leukemic cells, Leuk Res, 33, 28, 10.1016/j.leukres.2008.06.034 Zhu, 2013, Mutation of SIMPLE in Charcot–Marie–Tooth 1C alters production of exosomes, Mol Biol Cell, 24, 1619, 10.1091/mbc.E12-07-0544 HGMD(r) professional 2013.3 database. Saifi, 2005, SIMPLE mutations in Charcot–Marie–Tooth disease and the potential role of its protein product in protein degradation, Hum Mutat, 25, 372, 10.1002/humu.20153 Latour, 2006, SIMPLE mutation analysis in dominant demyelinating Charcot–Marie–Tooth disease: three novel mutations, J Peripher Nerv Syst, 11, 148, 10.1111/j.1085-9489.2006.00080.x Adzhubei, 2010, A method and server for predicting damaging missense mutations, Nat Methods, 7, 248, 10.1038/nmeth0410-248 Kumar, 2009, Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm, Nat Protoc, 4, 1073, 10.1038/nprot.2009.86 Murphy, 2012, Charcot–Marie–Tooth disease: frequency of genetic subtypes and guidelines for genetic testing, J Neurol Neurosurg Psychiatry, 83, 706, 10.1136/jnnp-2012-302451 Bennett, 2004, SIMPLE mutation in demyelinating neuropathy and distribution in sciatic nerve, Ann Neurol, 55, 713, 10.1002/ana.20094 Nicholson, 2006, Intermediate forms of Charcot–Marie–Tooth neuropathy: a review, Neuromolecular Med, 8, 123, 10.1385/NMM:8:1-2:123 Gerding, 2009, Hereditary motor and sensory neuropathy caused by a novel mutation in LITAF, Neuromuscul Disord, 19, 701, 10.1016/j.nmd.2009.05.006 Van den Bergh, 2010, Eur J Neurol, 17, 356, 10.1111/j.1468-1331.2009.02930.x Manganelli, 2012, Autonomic nervous system involvement in a new CMT2B family, J Peripher Nerv Syst, 17, 361, 10.1111/j.1529-8027.2012.00415.x Dawkins, 2001, Mutations in SPTLC1, encoding serine palmitoyltransferase, long chain base subunit-1, cause hereditary sensory neuropathy type I, Nat Genet, 27, 309, 10.1038/85879 Braathen, 2011, Genetic epidemiology of Charcot–Marie–Tooth in the general population, Eur J Neurol, 18, 39, 10.1111/j.1468-1331.2010.03037.x