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Results: 1 to 20 of 38

1.

The novel mutation p.Asp251Asn in the β-subunit of succinate-CoA ligase causes encephalomyopathy and elevated succinylcarnitine.

Jaberi E, Chitsazian F, Ali Shahidi G, Rohani M, Sina F, Safari I, Malakouti Nejad M, Houshmand M, Klotzle B, Elahi E.

J Hum Genet. 2013 Aug;58(8):526-30. doi: 10.1038/jhg.2013.45. Epub 2013 Jun 13.

PMID:
23759946
[PubMed - indexed for MEDLINE]
2.

Mitochondrial DNA depletion syndromes: review and updates of genetic basis, manifestations, and therapeutic options.

El-Hattab AW, Scaglia F.

Neurotherapeutics. 2013 Apr;10(2):186-98. doi: 10.1007/s13311-013-0177-6. Review.

PMID:
23385875
[PubMed - indexed for MEDLINE]
Free PMC Article
3.

A novel homozygous mutation in SUCLA2 gene identified by exome sequencing.

Lamperti C, Fang M, Invernizzi F, Liu X, Wang H, Zhang Q, Carrara F, Moroni I, Zeviani M, Zhang J, Ghezzi D.

Mol Genet Metab. 2012 Nov;107(3):403-8. doi: 10.1016/j.ymgme.2012.08.020. Epub 2012 Sep 7.

PMID:
23010432
[PubMed - indexed for MEDLINE]
Free PMC Article
4.

Mitochondrial DNA depletion syndrome: new descriptions and the use of citrate synthase as a helpful tool to better characterise the patients.

Navarro-Sastre A, Tort F, Garcia-Villoria J, Pons MR, Nascimento A, Colomer J, Campistol J, Yoldi ME, López-Gallardo E, Montoya J, Unceta M, Martinez MJ, Briones P, Ribes A.

Mol Genet Metab. 2012 Nov;107(3):409-15. doi: 10.1016/j.ymgme.2012.08.018. Epub 2012 Aug 31.

PMID:
22980518
[PubMed - indexed for MEDLINE]
5.

X-linked sideroblastic anemia due to carboxyl-terminal ALAS2 mutations that cause loss of binding to the β-subunit of succinyl-CoA synthetase (SUCLA2).

Bishop DF, Tchaikovskii V, Hoffbrand AV, Fraser ME, Margolis S.

J Biol Chem. 2012 Aug 17;287(34):28943-55. doi: 10.1074/jbc.M111.306423. Epub 2012 Jun 27.

PMID:
22740690
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

Neonatal onset of mitochondrial disorders in 129 patients: clinical and laboratory characteristics and a new approach to diagnosis.

Honzik T, Tesarova M, Magner M, Mayr J, Jesina P, Vesela K, Wenchich L, Szentivanyi K, Hansikova H, Sperl W, Zeman J.

J Inherit Metab Dis. 2012 Sep;35(5):749-59. doi: 10.1007/s10545-011-9440-3. Epub 2012 Jan 10.

PMID:
22231385
[PubMed - indexed for MEDLINE]
7.

Measurement of mitochondrial DNA copy number.

Venegas V, Halberg MC.

Methods Mol Biol. 2012;837:327-35. doi: 10.1007/978-1-61779-504-6_22.

PMID:
22215558
[PubMed - indexed for MEDLINE]
8.

Mitochondrial hepatopathies in the newborn period.

Fellman V, Kotarsky H.

Semin Fetal Neonatal Med. 2011 Aug;16(4):222-8. doi: 10.1016/j.siny.2011.05.002. Epub 2011 Jun 15. Review.

PMID:
21680270
[PubMed - indexed for MEDLINE]
9.

Neonatal lactic acidosis with methylmalonic aciduria due to novel mutations in the SUCLG1 gene.

Sakamoto O, Ohura T, Murayama K, Ohtake A, Harashima H, Abukawa D, Takeyama J, Haginoya K, Miyabayashi S, Kure S.

Pediatr Int. 2011 Dec;53(6):921-5. doi: 10.1111/j.1442-200X.2011.03412.x.

PMID:
21639866
[PubMed - indexed for MEDLINE]
10.

The interplay between SUCLA2, SUCLG2, and mitochondrial DNA depletion.

Miller C, Wang L, Ostergaard E, Dan P, Saada A.

Biochim Biophys Acta. 2011 May;1812(5):625-9. doi: 10.1016/j.bbadis.2011.01.013. Epub 2011 Feb 2.

PMID:
21295139
[PubMed - indexed for MEDLINE]
Free Article
11.

Real-time quantitative PCR analysis of mitochondrial DNA content.

Venegas V, Wang J, Dimmock D, Wong LJ.

Curr Protoc Hum Genet. 2011 Jan;Chapter 19:Unit 19.7.. doi: 10.1002/0471142905.hg1907s68.

PMID:
21234878
[PubMed - indexed for MEDLINE]
12.

Fatal infantile lactic acidosis and a novel homozygous mutation in the SUCLG1 gene: a mitochondrial DNA depletion disorder.

Randolph LM, Jackson HA, Wang J, Shimada H, Sanchez-Lara PA, Wong DA, Wong LJ, Boles RG.

Mol Genet Metab. 2011 Feb;102(2):149-52. doi: 10.1016/j.ymgme.2010.10.014. Epub 2010 Oct 30.

PMID:
21093335
[PubMed - indexed for MEDLINE]
13.

An incomplete TCA cycle increases survival of Salmonella Typhimurium during infection of resting and activated murine macrophages.

Bowden SD, Ramachandran VK, Knudsen GM, Hinton JC, Thompson A.

PLoS One. 2010 Nov 8;5(11):e13871. doi: 10.1371/journal.pone.0013871.

PMID:
21079785
[PubMed - indexed for MEDLINE]
Free PMC Article
14.

The severity of phenotype linked to SUCLG1 mutations could be correlated with residual amount of SUCLG1 protein.

Rouzier C, Le Guédard-Méreuze S, Fragaki K, Serre V, Miro J, Tuffery-Giraud S, Chaussenot A, Bannwarth S, Caruba C, Ostergaard E, Pellissier JF, Richelme C, Espil C, Chabrol B, Paquis-Flucklinger V.

J Med Genet. 2010 Oct;47(10):670-6. doi: 10.1136/jmg.2009.073445. Epub 2010 Aug 7.

PMID:
20693550
[PubMed - indexed for MEDLINE]
15.

Succinyl-CoA ligase deficiency: a mitochondrial hepatoencephalomyopathy.

Van Hove JL, Saenz MS, Thomas JA, Gallagher RC, Lovell MA, Fenton LZ, Shanske S, Myers SM, Wanders RJ, Ruiter J, Turkenburg M, Waterham HR.

Pediatr Res. 2010 Aug;68(2):159-64. doi: 10.1203/00006450-201011001-00310.

PMID:
20453710
[PubMed - indexed for MEDLINE]
Free PMC Article
16.

Quantitative evaluation of the mitochondrial DNA depletion syndrome.

Dimmock D, Tang LY, Schmitt ES, Wong LJ.

Clin Chem. 2010 Jul;56(7):1119-27. doi: 10.1373/clinchem.2009.141549. Epub 2010 May 6.

PMID:
20448188
[PubMed - indexed for MEDLINE]
Free Article
17.

Marked mitochondrial DNA depletion associated with a novel SUCLG1 gene mutation resulting in lethal neonatal acidosis, multi-organ failure, and interrupted aortic arch.

Rivera H, Merinero B, Martinez-Pardo M, Arroyo I, Ruiz-Sala P, Bornstein B, Serra-Suhe C, Gallardo E, Marti R, Moran MJ, Ugalde C, Perez-Jurado LA, Andreu AL, Garesse R, Ugarte M, Arenas J, Martin MA.

Mitochondrion. 2010 Jun;10(4):362-8. doi: 10.1016/j.mito.2010.03.003. Epub 2010 Mar 19.

PMID:
20227526
[PubMed - indexed for MEDLINE]
18.

New SUCLG1 patients expanding the phenotypic spectrum of this rare cause of mild methylmalonic aciduria.

Valayannopoulos V, Haudry C, Serre V, Barth M, Boddaert N, Arnoux JB, Cormier-Daire V, Rio M, Rabier D, Vassault A, Munnich A, Bonnefont JP, de Lonlay P, Rötig A, Lebre AS.

Mitochondrion. 2010 Jun;10(4):335-41. doi: 10.1016/j.mito.2010.02.006. Epub 2010 Mar 1.

PMID:
20197121
[PubMed - indexed for MEDLINE]
19.

Collated mutations in mitochondrial DNA (mtDNA) depletion syndrome (excluding the mitochondrial gamma polymerase, POLG1).

Poulton J, Hirano M, Spinazzola A, Arenas Hernandez M, Jardel C, Lombès A, Czermin B, Horvath R, Taanman JW, Rotig A, Zeviani M, Fratter C.

Biochim Biophys Acta. 2009 Dec;1792(12):1109-12. doi: 10.1016/j.bbadis.2009.08.016. Epub 2009 Sep 11. Review.

PMID:
19748572
[PubMed - indexed for MEDLINE]
Free Article
20.

Mitochondrial neurogastrointestinal encephalopathy due to mutations in RRM2B.

Shaibani A, Shchelochkov OA, Zhang S, Katsonis P, Lichtarge O, Wong LJ, Shinawi M.

Arch Neurol. 2009 Aug;66(8):1028-32. doi: 10.1001/archneurol.2009.139.

PMID:
19667227
[PubMed - indexed for MEDLINE]
Free PMC Article

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