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Journal Abstract Search

192 related items for PubMed ID: 22236406

  • 1. Molecular and functional analysis of two new MTTP gene mutations in an atypical case of abetalipoproteinemia.
    Di Filippo M, Créhalet H, Samson-Bouma ME, Bonnet V, Aggerbeck LP, Rabès JP, Gottrand F, Luc G, Bozon D, Sassolas A.
    J Lipid Res; 2012 Mar; 53(3):548-555. PubMed ID: 22236406
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  • 3. A severe form of abetalipoproteinemia caused by new splicing mutations of microsomal triglyceride transfer protein (MTTP).
    Pons V, Rolland C, Nauze M, Danjoux M, Gaibelet G, Durandy A, Sassolas A, Lévy E, Tercé F, Collet X, Mas E.
    Hum Mutat; 2011 Jul; 32(7):751-9. PubMed ID: 21394827
    [Abstract] [Full Text] [Related]

  • 4. Molecular characterization of Tunisian families with abetalipoproteinemia and identification of a novel mutation in MTTP gene.
    Najah M, Youssef SM, Yahia HM, Afef S, Awatef J, Saber H, Fadhel NM, Sassolas A, Naceur SM.
    Diagn Pathol; 2013 Apr 04; 8():54. PubMed ID: 23556456
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  • 5. Ileal adenocarcinoma in a mild phenotype of abetalipoproteinemia.
    Al-Shali K, Wang J, Rosen F, Hegele RA.
    Clin Genet; 2003 Feb 04; 63(2):135-8. PubMed ID: 12630961
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  • 7. Structure-function analyses of microsomal triglyceride transfer protein missense mutations in abetalipoproteinemia and hypobetalipoproteinemia subjects.
    Walsh MT, Di Leo E, Okur I, Tarugi P, Hussain MM.
    Biochim Biophys Acta; 2016 Nov 04; 1861(11):1623-1633. PubMed ID: 27487388
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  • 8. A tale of 2 cousins: An atypical and a typical case of abetalipoproteinemia.
    Paquette M, Dufour R, Hegele RA, Baass A.
    J Clin Lipidol; 2016 Nov 04; 10(4):1030-1034. PubMed ID: 27578136
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  • 9. Microsomal triglyceride transfer protein (MTP) gene mutations in Canadian subjects with abetalipoproteinemia.
    Wang J, Hegele RA.
    Hum Mutat; 2000 Mar 04; 15(3):294-5. PubMed ID: 10679949
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  • 10. Clinical features and molecular genetics of two Tunisian families with abetalipoproteinemia.
    Hammer MB, El Euch-Fayache G, Nehdi H, Feki M, Maamouri-Hicheri W, Hentati F, Amouri R.
    J Clin Neurosci; 2014 Feb 04; 21(2):311-5. PubMed ID: 24139731
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  • 11. Mutations in MTP gene in abeta- and hypobeta-lipoproteinemia.
    Di Leo E, Lancellotti S, Penacchioni JY, Cefalù AB, Averna M, Pisciotta L, Bertolini S, Calandra S, Gabelli C, Tarugi P.
    Atherosclerosis; 2005 Jun 04; 180(2):311-8. PubMed ID: 15910857
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  • 12. Knockout of the abetalipoproteinemia gene in mice: reduced lipoprotein secretion in heterozygotes and embryonic lethality in homozygotes.
    Raabe M, Flynn LM, Zlot CH, Wong JS, Véniant MM, Hamilton RL, Young SG.
    Proc Natl Acad Sci U S A; 1998 Jul 21; 95(15):8686-91. PubMed ID: 9671739
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  • 13. Novel missense MTTP gene mutations causing abetalipoproteinemia.
    Miller SA, Burnett JR, Leonis MA, McKnight CJ, van Bockxmeer FM, Hooper AJ.
    Biochim Biophys Acta; 2014 Oct 21; 1842(10):1548-54. PubMed ID: 25108285
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  • 14. Normal plasma apoB48 despite the virtual absence of apoB100 in a compound heterozygote with novel mutations in the MTTP gene.
    Takahashi M, Ozaki N, Nagashima S, Wakabayashi T, Iwamoto S, Ishibashi S.
    J Clin Lipidol; 2021 Oct 21; 15(4):569-573. PubMed ID: 34052173
    [Abstract] [Full Text] [Related]

  • 15. A novel p.Gly417Valfs*12 mutation in the MTTP gene causing abetalipoproteinemia: Presentation of the first patient in Mexico and analysis of the previously reported cases.
    Rodríguez Gutiérrez PG, González García JR, Castillo De León YA, Zárate Guerrero JR, Magaña Torres MT.
    J Clin Lab Anal; 2021 Mar 21; 35(3):e23672. PubMed ID: 33258201
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  • 16. Abetalipoproteinemia: two case reports and literature review.
    Zamel R, Khan R, Pollex RL, Hegele RA.
    Orphanet J Rare Dis; 2008 Jul 08; 3():19. PubMed ID: 18611256
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  • 17. Postprandial lipid absorption in seven heterozygous carriers of deleterious variants of MTTP in two abetalipoproteinemic families.
    Di Filippo M, Varret M, Boehm V, Rabès JP, Ferkdadji L, Abramowitz L, Dumont S, Lenaerts C, Boileau C, Joly F, Schmitz J, Samson-Bouma ME, Bonnefont-Rousselot D.
    J Clin Lipidol; 2019 Jul 08; 13(1):201-212. PubMed ID: 30522860
    [Abstract] [Full Text] [Related]

  • 18. Mutations of the microsomal triglyceride-transfer-protein gene in abetalipoproteinemia.
    Narcisi TM, Shoulders CC, Chester SA, Read J, Brett DJ, Harrison GB, Grantham TT, Fox MF, Povey S, de Bruin TW.
    Am J Hum Genet; 1995 Dec 08; 57(6):1298-310. PubMed ID: 8533758
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  • 19. A novel abetalipoproteinemia genotype. Identification of a missense mutation in the 97-kDa subunit of the microsomal triglyceride transfer protein that prevents complex formation with protein disulfide isomerase.
    Rehberg EF, Samson-Bouma ME, Kienzle B, Blinderman L, Jamil H, Wetterau JR, Aggerbeck LP, Gordon DA.
    J Biol Chem; 1996 Nov 22; 271(47):29945-52. PubMed ID: 8939939
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