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Items: 1 to 20 of 106

1.

Mitochondrial 3243A > G mutation confers pro-atherogenic and pro-inflammatory properties in MELAS iPS derived endothelial cells.

Pek NMQ, Phua QH, Ho BX, Pang JKS, Hor JH, An O, Yang HH, Yu Y, Fan Y, Ng SY, Soh BS.

Cell Death Dis. 2019 Oct 22;10(11):802. doi: 10.1038/s41419-019-2036-9.

2.

MELAS syndrome: Clinical manifestations, pathogenesis, and treatment options.

El-Hattab AW, Adesina AM, Jones J, Scaglia F.

Mol Genet Metab. 2015 Sep-Oct;116(1-2):4-12. doi: 10.1016/j.ymgme.2015.06.004. Epub 2015 Jun 15. Review.

PMID:
26095523
3.

The MELAS mutation m.3243A>G promotes reactivation of fetal cardiac genes and an epithelial-mesenchymal transition-like program via dysregulation of miRNAs.

Meseguer S, Panadero J, Navarro-González C, Villarroya M, Boutoual R, Comi GP, Armengod ME.

Biochim Biophys Acta Mol Basis Dis. 2018 Sep;1864(9 Pt B):3022-3037. doi: 10.1016/j.bbadis.2018.06.014. Epub 2018 Jun 19.

4.

Detection rates and phenotypic spectrum of m.3243A>G in the MT-TL1 gene: a molecular diagnostic laboratory perspective.

Chin J, Marotta R, Chiotis M, Allan EH, Collins SJ.

Mitochondrion. 2014 Jul;17:34-41. doi: 10.1016/j.mito.2014.05.005. Epub 2014 May 17.

PMID:
24846800
5.

MELAS Syndrome and Kidney Disease Without Fanconi Syndrome or Proteinuria: A Case Report.

Rudnicki M, Mayr JA, Zschocke J, Antretter H, Regele H, Feichtinger RG, Windpessl M, Mayer G, Pölzl G.

Am J Kidney Dis. 2016 Dec;68(6):949-953. doi: 10.1053/j.ajkd.2016.06.027. Epub 2016 Sep 24.

PMID:
27683045
6.

Correction of the consequences of mitochondrial 3243A>G mutation in the MT-TL1 gene causing the MELAS syndrome by tRNA import into mitochondria.

Karicheva OZ, Kolesnikova OA, Schirtz T, Vysokikh MY, Mager-Heckel AM, Lombès A, Boucheham A, Krasheninnikov IA, Martin RP, Entelis N, Tarassov I.

Nucleic Acids Res. 2011 Oct;39(18):8173-86. doi: 10.1093/nar/gkr546. Epub 2011 Jun 30.

7.

Molecular pathology of MELAS and L-arginine effects.

Koga Y, Povalko N, Nishioka J, Katayama K, Yatsuga S, Matsuishi T.

Biochim Biophys Acta. 2012 May;1820(5):608-14. doi: 10.1016/j.bbagen.2011.09.005. Epub 2011 Sep 14. Review.

PMID:
21944974
8.

MELAS.

El-Hattab AW, Almannai M, Scaglia F.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019.
2001 Feb 27 [updated 2018 Nov 29].

9.

Screening of effective pharmacological treatments for MELAS syndrome using yeasts, fibroblasts and cybrid models of the disease.

Garrido-Maraver J, Cordero MD, Moñino ID, Pereira-Arenas S, Lechuga-Vieco AV, Cotán D, De la Mata M, Oropesa-Ávila M, De Miguel M, Bautista Lorite J, Rivas Infante E, Alvarez-Dolado M, Navas P, Jackson S, Francisci S, Sánchez-Alcázar JA.

Br J Pharmacol. 2012 Nov;167(6):1311-28. doi: 10.1111/j.1476-5381.2012.02086.x.

10.

Neuroimaging characteristics in mitochondrial encephalopathies associated with the m.3243A>G MTTL1 mutation.

Tschampa HJ, Urbach H, Greschus S, Kunz WS, Kornblum C.

J Neurol. 2013 Apr;260(4):1071-80. doi: 10.1007/s00415-012-6763-4. Epub 2012 Nov 30.

PMID:
23196335
11.

Mitochondrial DNA 3243A>T mutation in a patient with MELAS syndrome.

Ikeda T, Osaka H, Shimbo H, Tajika M, Yamazaki M, Ueda A, Murayama K, Yamagata T.

Hum Genome Var. 2018 Sep 4;5:25. doi: 10.1038/s41439-018-0026-6. eCollection 2018.

12.

Mitochondrial DNA mutation "m.3243A>G"-Heterogeneous clinical picture for cardiologists ("m.3243A>G": A phenotypic chameleon).

Niedermayr K, Pölzl G, Scholl-Bürgi S, Fauth C, Schweigmann U, Haberlandt E, Albrecht U, Zlamy M, Sperl W, Mayr JA, Karall D.

Congenit Heart Dis. 2018 Sep;13(5):671-677. doi: 10.1111/chd.12634. Epub 2018 Aug 21.

PMID:
30133155
13.

[MELAS: Mitochondrial Encephalomyopathy, Lactic Acidosis and Stroke-Like Episodes].

Murakami H, Ono K.

Brain Nerve. 2017 Feb;69(2):111-117. doi: 10.11477/mf.1416200650. Review. Japanese.

PMID:
28202819
14.

Progress in Diagnosing Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-like Episodes.

Wang YX, Le WD.

Chin Med J (Engl). 2015 Jul 5;128(13):1820-5. doi: 10.4103/0366-6999.159360. Review.

15.

[Mitochondrial genome analysis in the probands of six Chinese families with MELAS].

Liu L, Yuquan S, Baorong Z, Pingping J, Ailian D, Minxin G.

Yi Chuan. 2014 Nov;36(11):1159-67. doi: 10.3724/SP.J.1005.2014.1159. Chinese.

PMID:
25567874
16.

Heteroplasmy and phenotype spectrum of the mitochondrial tRNALeu (UUR) gene m.3243A>G mutation in seven Han Chinese families.

Liu G, Shen X, Sun Y, Lv Q, Li Y, Du A.

J Neurol Sci. 2019 Nov 6;408:116562. doi: 10.1016/j.jns.2019.116562. [Epub ahead of print]

PMID:
31722256
17.

Can Intestinal Pseudo-Obstruction Drive Recurrent Stroke-Like Episodes in Late-Onset MELAS Syndrome? A Case Report and Review of the Literature.

Gagliardi D, Mauri E, Magri F, Velardo D, Meneri M, Abati E, Brusa R, Faravelli I, Piga D, Ronchi D, Triulzi F, Peverelli L, Sciacco M, Bresolin N, Comi GP, Corti S, Govoni A.

Front Neurol. 2019 Jan 31;10:38. doi: 10.3389/fneur.2019.00038. eCollection 2019.

18.

Glucose metabolism derangements in adults with the MELAS m.3243A>G mutation.

El-Hattab AW, Emrick LT, Hsu JW, Chanprasert S, Jahoor F, Scaglia F, Craigen WJ.

Mitochondrion. 2014 Sep;18:63-9. doi: 10.1016/j.mito.2014.07.008. Epub 2014 Jul 30.

19.

The MELAS mutation m.3243A>G alters the expression of mitochondrial tRNA fragments.

Meseguer S, Navarro-González C, Panadero J, Villarroya M, Boutoual R, Sánchez-Alcázar JA, Armengod ME.

Biochim Biophys Acta Mol Cell Res. 2019 Sep;1866(9):1433-1449. doi: 10.1016/j.bbamcr.2019.06.004. Epub 2019 Jun 11.

20.

Mitochondrial cytopathy with common MELAS mutation presenting as multiple system atrophy mimic.

Pröbstel AK, Schaller A, Lieb J, Hench J, Frank S, Fuhr P, Kappos L, Sinnreich M.

Neurol Genet. 2016 Nov 17;2(6):e121. eCollection 2016 Dec.

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