| 释义 |
- See also
- References
- Further reading
- External links
{{Infobox_gene}}Alpha-tocopherol transfer protein is a protein that in humans is encoded by the TTPA gene.[1][2][3]See also- Familial isolated vitamin E deficiency
References1. ^{{cite journal | vauthors = Ouahchi K, Arita M, Kayden H, Hentati F, Ben Hamida M, Sokol R, Arai H, Inoue K, Mandel JL, Koenig M | 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 = 141–145 |date=1995 | pmid = 7719340 | pmc = | doi = 10.1038/ng0295-141}}
2. ^{{cite journal | vauthors = Arita M, Sato Y, Miyata A, Tanabe T, Takahashi E, Kayden HJ, Arai H, Inoue K | title = Human alpha-tocopherol transfer protein: cDNA cloning, expression and chromosomal localization | journal = Biochem J | volume = 306 | issue = 2| pages = 437–443 |date=1995 | pmid = 7887897 | pmc = 1136538 | doi =}}
3. ^{{cite web | title = Entrez Gene: TTPA tocopherol (alpha) transfer protein (ataxia (Friedreich-like) with vitamin E deficiency)| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=7274| accessdate =}}
Further reading{{refbegin | 2}}- {{cite journal | vauthors=Gotoda T, Arita M, Arai H |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=10.1056/NEJM199511163332003 |display-authors=etal}}
- {{cite journal | vauthors=Ben Hamida C, Doerflinger N, Belal S |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 |display-authors=etal}}
- {{cite journal | vauthors=Hentati A, Deng HX, Hung WY |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 |display-authors=etal}}
- {{cite journal | vauthors=Cavalier L, Ouahchi K, Kayden HJ |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=10.1086/301699 |pmc=1376876|display-authors=etal}}
- {{cite journal | vauthors=Schuelke M, Mayatepek E, Inter M |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=10.1016/S0022-3476(99)70424-5 |display-authors=etal}}
- {{cite journal | vauthors=Cellini E, Piacentini S, Nacmias B |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=10.1001/archneur.59.12.1952 |display-authors=etal}}
- {{cite journal | vauthors=Strausberg RL, Feingold EA, Grouse LH |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 |pmc=139241|display-authors=etal}}
- {{cite journal | vauthors=Meier R, Tomizaki T, Schulze-Briese C |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=10.1016/S0022-2836(03)00724-1 |display-authors=etal}}
- {{cite journal | vauthors=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 |pmc=299775}}
- {{cite journal | vauthors=Morley S, Panagabko C, Shineman D |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 |display-authors=etal}}
- {{cite journal | vauthors=Müller-Schmehl K, Beninde J, Finckh B |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=10.1080/10715760310001659611 |display-authors=etal}}
- {{cite journal | vauthors=Mariotti C, Gellera C, Rimoldi M |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 |display-authors=etal}}
- {{cite journal | vauthors=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 | vauthors=Gerhard DS, Wagner L, Feingold EA |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 |pmc=528928|display-authors=etal}}
- {{cite journal | vauthors=Klein RL, Semler AJ, Baynes JW |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 |display-authors=etal}}
- {{cite journal | vauthors=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 | vauthors=Attia J, Thakkinstian A, Wang Y |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 |display-authors=etal}}
{{refend}}External links- [https://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=aved GeneReviews/NCBI/NIH/UW entry on Ataxia with Vitamin E Deficiency]
- [https://www.ncbi.nlm.nih.gov/omim/200100,266500,277460,600415,277460,600415 OMIM entries on Ataxia with Vitamin E Deficiency]
- {{UCSC gene info|TTPA}}
{{PDB Gallery|geneid=7274}}{{Metabolism of vitamins, coenzymes, and cofactors}}{{gene-8-stub}} |