[cite web | title = Entrez Gene: TTPA tocopherol (alpha) transfer protein (ataxia (Friedreich-like) with vitamin E deficiency)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=7274| accessdate = ] ] PBB_Summary
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References
Further reading
PBB_Further_reading
citations =
*cite journal | author=Gotoda T, Arita M, Arai H, "et al." |title=Adult-onset spinocerebellar dysfunction caused by a mutation in the gene for the alpha-tocopherol-transfer protein. |journal=N. Engl. J. Med. |volume=333 |issue= 20 |pages= 1313–8 |year= 1995 |pmid= 7566022 |doi=
*cite journal | author=Ouahchi K, Arita M, Kayden H, "et al." |title=Ataxia with isolated vitamin E deficiency is caused by mutations in the alpha-tocopherol transfer protein. |journal=Nat. Genet. |volume=9 |issue= 2 |pages= 141–5 |year= 1995 |pmid= 7719340 |doi= 10.1038/ng0295-141
*cite journal | author=Arita M, Sato Y, Miyata A, "et al." |title=Human alpha-tocopherol transfer protein: cDNA cloning, expression and chromosomal localization. |journal=Biochem. J. |volume=306 ( Pt 2) |issue= |pages= 437–43 |year= 1995 |pmid= 7887897 |doi=
*cite journal | author=Ben Hamida C, Doerflinger N, Belal S, "et al." |title=Localization of Friedreich ataxia phenotype with selective vitamin E deficiency to chromosome 8q by homozygosity mapping. |journal=Nat. Genet. |volume=5 |issue= 2 |pages= 195–200 |year= 1994 |pmid= 8252047 |doi= 10.1038/ng1093-195
*cite journal | author=Hentati A, Deng HX, Hung WY, "et al." |title=Human alpha-tocopherol transfer protein: gene structure and mutations in familial vitamin E deficiency. |journal=Ann. Neurol. |volume=39 |issue= 3 |pages= 295–300 |year= 1996 |pmid= 8602747 |doi= 10.1002/ana.410390305
*cite journal | author=Cavalier L, Ouahchi K, Kayden HJ, "et al." |title=Ataxia with isolated vitamin E deficiency: heterogeneity of mutations and phenotypic variability in a large number of families. |journal=Am. J. Hum. Genet. |volume=62 |issue= 2 |pages= 301–10 |year= 1998 |pmid= 9463307 |doi=
*cite journal | author=Schuelke M, Mayatepek E, Inter M, "et al." |title=Treatment of ataxia in isolated vitamin E deficiency caused by alpha-tocopherol transfer protein deficiency. |journal=J. Pediatr. |volume=134 |issue= 2 |pages= 240–4 |year= 1999 |pmid= 9931538 |doi=
*cite journal | author=Cellini E, Piacentini S, Nacmias B, "et al." |title=A family with spinocerebellar ataxia type 8 expansion and vitamin E deficiency ataxia. |journal=Arch. Neurol. |volume=59 |issue= 12 |pages= 1952–3 |year= 2003 |pmid= 12470185 |doi=
*cite journal | author=Strausberg RL, Feingold EA, Grouse LH, "et al." |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899
*cite journal | author=Meier R, Tomizaki T, Schulze-Briese C, "et al." |title=The molecular basis of vitamin E retention: structure of human alpha-tocopherol transfer protein. |journal=J. Mol. Biol. |volume=331 |issue= 3 |pages= 725–34 |year= 2003 |pmid= 12899840 |doi=
*cite journal | author=Min KC, Kovall RA, Hendrickson WA |title=Crystal structure of human alpha-tocopherol transfer protein bound to its ligand: implications for ataxia with vitamin E deficiency. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=100 |issue= 25 |pages= 14713–8 |year= 2004 |pmid= 14657365 |doi= 10.1073/pnas.2136684100
*cite journal | author=Morley S, Panagabko C, Shineman D, "et al." |title=Molecular determinants of heritable vitamin E deficiency. |journal=Biochemistry |volume=43 |issue= 14 |pages= 4143–9 |year= 2004 |pmid= 15065857 |doi= 10.1021/bi0363073
*cite journal | author=Müller-Schmehl K, Beninde J, Finckh B, "et al." |title=Localization of alpha-tocopherol transfer protein in trophoblast, fetal capillaries' endothelium and amnion epithelium of human term placenta. |journal=Free Radic. Res. |volume=38 |issue= 4 |pages= 413–20 |year= 2004 |pmid= 15190938 |doi=
*cite journal | author=Mariotti C, Gellera C, Rimoldi M, "et al." |title=Ataxia with isolated vitamin E deficiency: neurological phenotype, clinical follow-up and novel mutations in TTPA gene in Italian families. |journal=Neurol. Sci. |volume=25 |issue= 3 |pages= 130–7 |year= 2004 |pmid= 15300460 |doi= 10.1007/s10072-004-0246-z
*cite journal | author=Wolf AT, Medcalf RL, Jern C |title=The t-PA -7351C>T enhancer polymorphism decreases Sp1 and Sp3 protein binding affinity and transcriptional responsiveness to retinoic acid. |journal=Blood |volume=105 |issue= 3 |pages= 1060–7 |year= 2005 |pmid= 15466927 |doi= 10.1182/blood-2003-12-4383
*cite journal | author=Gerhard DS, Wagner L, Feingold EA, "et al." |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121–7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504
*cite journal | author=Klein RL, Semler AJ, Baynes JW, "et al." |title=Glycation does not alter LDL-induced secretion of tissue plasminogen activator and plasminogen activator inhibitor-1 from human aortic endothelial cells. |journal=Ann. N. Y. Acad. Sci. |volume=1043 |issue= |pages= 379–89 |year= 2005 |pmid= 16037259 |doi= 10.1196/annals.1333.044
*cite journal | author=Qian J, Atkinson J, Manor D |title=Biochemical consequences of heritable mutations in the alpha-tocopherol transfer protein. |journal=Biochemistry |volume=45 |issue= 27 |pages= 8236–42 |year= 2006 |pmid= 16819822 |doi= 10.1021/bi060522c
*cite journal | author=Attia J, Thakkinstian A, Wang Y, "et al." |title=The PAI-1 4G/5G gene polymorphism and ischemic stroke: an association study and meta-analysis. |journal=Journal of stroke and cerebrovascular diseases : the official journal of National Stroke Association |volume=16 |issue= 4 |pages= 173–9 |year= 2007 |pmid= 17689414 |doi= 10.1016/j.jstrokecerebrovasdis.2007.03.002
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