A systematic comparison of all mutations in hereditary sensory neuropathy type i (HSAN I) reveals that the G387A mutation is not disease associated

Neurogenetics

Volumn 10, Issue 2, 2009, Pages 135-143

  Hornemann, Thorsten ^a   Penno, Anke ^a   Richard, Stephane ^a   Nicholson, Garth ^b   Van Dijk, Fleur S ^c   Rotthier, Annelies ^d,e   Timmerman, Vincent ^d,e   Von Eckardstein, Arnold ^a  

^a UNIVERSITY HOSPITAL ZURICH   (Switzerland)

^b ANZAC RESEARCH INSTITUTE   (Australia)

^c VU UNIVERSITY MEDICAL CENTER   (Netherlands)

^d UNIVERSITY OF ANTWERP   (Belgium)

^e UNIVERSITY OF ANTWERP   (Belgium)

Author keywords

Ceramide; HSAN I; Peripheral neuropathy; Serine palmitoyltransferase; Sphingolipid; SPTLC

Indexed keywords

ALANINE; ASPARTIC ACID; CYSTEINE; GLYCINE; SERINE PALMITOYLTRANSFERASE; TRYPTOPHAN; TYROSINE; VALINE;

ANIMAL CELL; ARTICLE; CASE REPORT; CELL GROWTH; CHILD; CLINICAL FEATURE; ENZYME ACTIVITY; GENE SEGREGATION; HEREDITARY SENSORY NEUROPATHY TYPE I; HUMAN; HUMAN CELL; MISSENSE MUTATION; NEUROPATHY; NONHUMAN; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN EXPRESSION; SENSORY NEUROPATHY; SINGLE NUCLEOTIDE POLYMORPHISM;

ANIMALS; CELL LINE; DNA MUTATIONAL ANALYSIS; FEMALE; HEREDITARY SENSORY AND AUTONOMIC NEUROPATHIES; HUMANS; INFANT; MALE; MUTATION, MISSENSE; PEDIGREE; PHENOTYPE; POLYMORPHISM, SINGLE NUCLEOTIDE;

EID: 64149089395     PISSN: 13646745     EISSN: None     Source Type: Journal    
DOI: 10.1007/s10048-008-0168-7     Document Type: Article

References (21)

1. M Auer-Grumbach 2008 Hereditary sensory neuropathy type I Orphanet J Rare Dis 3 7
2. Dyck PJ (1993) Peripheral neuropathies. Saunders, Philadelphia, pp 1065-1093
3. K Bejaoui 2001 SPTLC1 is mutated in hereditary sensory neuropathy, type 1 Nat Genet 27 261 262
4. JL Dawkins DJ Hulme SB Brahmbhatt M Auer-Grumbach GA Nicholson 2001 Mutations in SPTLC1, encoding serine palmitoyltransferase, long chain base subunit-1, cause hereditary sensory neuropathy type I Nat Genet 27 309 312
5. K Verhoeven 2004 SPTLC1 mutation in twin sisters with hereditary sensory neuropathy type I Neurology 62 1001 1002
6. K Hanada 2003 Serine palmitoyltransferase, a key enzyme of sphingolipid metabolism Biochim Biophys Acta 1632 16 30
7. T Hornemann S Richard MF Rutti Y Wei A von Eckardstein 2006 Cloning and initial characterization of a new subunit for mammalian serine- palmitoyltransferase J Biol Chem 281 37275 37281
8. T Hornemann Y Wei A von Eckardstein 2007 Is the mammalian serine palmitoyltransferase a high-molecular-mass complex Biochem J 405 157 164
9. BA Yard 2007 The structure of serine palmitoyltransferase; gateway to sphingolipid biosynthesis J Mol Biol 370 870 886
10. K Bejaoui 2002 Hereditary sensory neuropathy type 1 mutations confer dominant negative effects on serine palmitoyltransferase, critical for sphingolipid synthesis J Clin Invest 110 1301 1308
11. VN Dedov IV Dedova AH Merrill Jr GA Nicholson 2004 Activity of partially inhibited serine palmitoyltransferase is sufficient for normal sphingolipid metabolism and viability of HSN1 patient cells Biochim Biophys Acta 1688 168 175
12. K Gable 2002 Mutations in the yeast LCB1 and LCB2 genes, including those corresponding to the hereditary sensory neuropathy type I mutations, dominantly inactivate serine palmitoyltransferase J Biol Chem 277 10194 10200
13. S Weckx 2005 novoSNP, a novel computational tool for sequence variation discovery Genome Res 15 436 442
14. RC Dickson RL Lester MM Nagiec 2000 Serine palmitoyltransferase Methods Enzymol 311 3 9
15. RT Riley WP Norred E Wang AH Merrill 1999 Alteration in sphingolipid metabolism: bioassays for fumonisin- and ISP-I-like activity in tissues, cells and other matrices Nat Toxins 7 407 414
16. K Hanada 1998 Mammalian cell mutants resistant to a sphingomyelin- directed cytolysin. Genetic and biochemical evidence for complex formation of the LCB1 protein with the LCB2 protein for serine palmitoyltransferase J Biol Chem 273 33787 33794
17. Wei J, Yerokun T et al (2006) Sphingolipid biology. Springer, New York
18. A McCampbell 2005 Mutant SPTLC1 dominantly inhibits serine palmitoyltransferase activity in vivo and confers an age-dependent neuropathy Hum Mol Genet 14 3507 3521
19. MR Hojjati Z Li XC Jiang 2005 Serine palmitoyl-CoA transferase (SPT) deficiency and sphingolipid levels in mice Biochim Biophys Acta 1737 44 51
20. K Verhoeven 2003 Mutations in the small GTP-ase late endosomal protein RAB7 cause Charcot-Marie-Tooth type 2B neuropathy Am J Hum Genet 72 722 727
21. K Verhoeven 2006 Recent advances in hereditary sensory and autonomic neuropathies Curr Opin Neurol 19 474 480