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Items: 1 to 20 of 123

1.

Infantile cerebellar-retinal degeneration associated with a mutation in mitochondrial aconitase, ACO2.

Spiegel R, Pines O, Ta-Shma A, Burak E, Shaag A, Halvardson J, Edvardson S, Mahajna M, Zenvirt S, Saada A, Shalev S, Feuk L, Elpeleg O.

Am J Hum Genet. 2012 Mar 9;90(3):518-23. doi: 10.1016/j.ajhg.2012.01.009.

2.

Mutations in the tricarboxylic acid cycle enzyme, aconitase 2, cause either isolated or syndromic optic neuropathy with encephalopathy and cerebellar atrophy.

Metodiev MD, Gerber S, Hubert L, Delahodde A, Chretien D, Gérard X, Amati-Bonneau P, Giacomotto MC, Boddaert N, Kaminska A, Desguerre I, Amiel J, Rio M, Kaplan J, Munnich A, Rötig A, Rozet JM, Besmond C.

J Med Genet. 2014 Dec;51(12):834-8. doi: 10.1136/jmedgenet-2014-102532. Epub 2014 Oct 28.

PMID:
25351951
3.

Functional cellular analyses reveal energy metabolism defect and mitochondrial DNA depletion in a case of mitochondrial aconitase deficiency.

Sadat R, Barca E, Masand R, Donti TR, Naini A, De Vivo DC, DiMauro S, Hanchard NA, Graham BH.

Mol Genet Metab. 2016 May;118(1):28-34. doi: 10.1016/j.ymgme.2016.03.004. Epub 2016 Mar 8.

4.

Increased Survival and Partly Preserved Cognition in a Patient With ACO2-Related Disease Secondary to a Novel Variant.

Srivastava S, Gubbels CS, Dies K, Fulton A, Yu T, Sahin M.

J Child Neurol. 2017 Aug;32(9):840-845. doi: 10.1177/0883073817711527. Epub 2017 May 25.

PMID:
28545339
5.

Plasma metabolomics reveals a diagnostic metabolic fingerprint for mitochondrial aconitase (ACO2) deficiency.

Abela L, Spiegel R, Crowther LM, Klein A, Steindl K, Papuc SM, Joset P, Zehavi Y, Rauch A, Plecko B, Simmons TL.

PLoS One. 2017 May 2;12(5):e0176363. doi: 10.1371/journal.pone.0176363. eCollection 2017.

6.

Characterization of the human mitochondrial aconitase gene (ACO2).

Mirel DB, Marder K, Graziano J, Freyer G, Zhao Q, Mayeux R, Wilhelmsen KC.

Gene. 1998 Jun 15;213(1-2):205-18.

PMID:
9630632
7.

Agenesis of corpus callosum and optic nerve hypoplasia due to mutations in SLC25A1 encoding the mitochondrial citrate transporter.

Edvardson S, Porcelli V, Jalas C, Soiferman D, Kellner Y, Shaag A, Korman SH, Pierri CL, Scarcia P, Fraenkel ND, Segel R, Schechter A, Frumkin A, Pines O, Saada A, Palmieri L, Elpeleg O.

J Med Genet. 2013 Apr;50(4):240-5. doi: 10.1136/jmedgenet-2012-101485. Epub 2013 Feb 7.

PMID:
23393310
8.

Essential function of Aco2, a fusion protein of aconitase and mitochondrial ribosomal protein bL21, in mitochondrial translation in fission yeast.

Jung SJ, Seo Y, Lee KC, Lee D, Roe JH.

FEBS Lett. 2015 Mar 24;589(7):822-8. doi: 10.1016/j.febslet.2015.02.015. Epub 2015 Feb 25.

9.

Absence of an orphan mitochondrial protein, c19orf12, causes a distinct clinical subtype of neurodegeneration with brain iron accumulation.

Hartig MB, Iuso A, Haack T, Kmiec T, Jurkiewicz E, Heim K, Roeber S, Tarabin V, Dusi S, Krajewska-Walasek M, Jozwiak S, Hempel M, Winkelmann J, Elstner M, Oexle K, Klopstock T, Mueller-Felber W, Gasser T, Trenkwalder C, Tiranti V, Kretzschmar H, Schmitz G, Strom TM, Meitinger T, Prokisch H.

Am J Hum Genet. 2011 Oct 7;89(4):543-50. doi: 10.1016/j.ajhg.2011.09.007.

10.

Somatic cell mapping of the mitochondrial aconitase gene (ACO2) to bovine chromosome 5.

Ryan AM, Womack JE.

Anim Genet. 1994 Apr;25(2):123. No abstract available.

PMID:
7912050
11.

Clinical manifestation and a new ISCU mutation in iron-sulphur cluster deficiency myopathy.

Kollberg G, Tulinius M, Melberg A, Darin N, Andersen O, Holmgren D, Oldfors A, Holme E.

Brain. 2009 Aug;132(Pt 8):2170-9. doi: 10.1093/brain/awp152. Epub 2009 Jun 30.

PMID:
19567699
12.

Deleterious mutation in the mitochondrial arginyl-transfer RNA synthetase gene is associated with pontocerebellar hypoplasia.

Edvardson S, Shaag A, Kolesnikova O, Gomori JM, Tarassov I, Einbinder T, Saada A, Elpeleg O.

Am J Hum Genet. 2007 Oct;81(4):857-62. Epub 2007 Aug 24.

13.

Lymphocytic mitochondrial aconitase activity is reduced in Alzheimer's disease and mild cognitive impairment.

Mangialasche F, Baglioni M, Cecchetti R, Kivipelto M, Ruggiero C, Piobbico D, Kussmaul L, Monastero R, Brancorsini S, Mecocci P.

J Alzheimers Dis. 2015;44(2):649-60. doi: 10.3233/JAD-142052.

PMID:
25322927
14.

[Mixed hypotonia, neurological regression and atrophy of the cerebellum: manifestations that suggest infantile neuroaxonal dystrophy].

Blanco-Barca MO, Eiris-Puñal J, Peña-Guitian J, Fernández-Bustillo JM, Pintos-Martínez E, Castro-Gago M.

Rev Neurol. 2003 Jul 1-15;37(1):25-8. Spanish.

15.

Monoallelic and Biallelic Variants in EMC1 Identified in Individuals with Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy.

Harel T, Yesil G, Bayram Y, Coban-Akdemir Z, Charng WL, Karaca E, Al Asmari A, Eldomery MK, Hunter JV, Jhangiani SN, Rosenfeld JA, Pehlivan D, El-Hattab AW, Saleh MA, LeDuc CA, Muzny D, Boerwinkle E; Baylor-Hopkins Center for Mendelian Genomics, Gibbs RA, Chung WK, Yang Y, Belmont JW, Lupski JR.

Am J Hum Genet. 2016 Mar 3;98(3):562-570. doi: 10.1016/j.ajhg.2016.01.011.

16.

Pontocerebellar hypoplasia type 6 caused by mutations in RARS2: definition of the clinical spectrum and molecular findings in five patients.

Cassandrini D, Cilio MR, Bianchi M, Doimo M, Balestri M, Tessa A, Rizza T, Sartori G, Meschini MC, Nesti C, Tozzi G, Petruzzella V, Piemonte F, Bisceglia L, Bruno C, Dionisi-Vici C, D'Amico A, Fattori F, Carrozzo R, Salviati L, Santorelli FM, Bertini E.

J Inherit Metab Dis. 2013 Jan;36(1):43-53. doi: 10.1007/s10545-012-9487-9. Epub 2012 May 8.

PMID:
22569581
17.

Infantile cerebral and cerebellar atrophy is associated with a mutation in the MED17 subunit of the transcription preinitiation mediator complex.

Kaufmann R, Straussberg R, Mandel H, Fattal-Valevski A, Ben-Zeev B, Naamati A, Shaag A, Zenvirt S, Konen O, Mimouni-Bloch A, Dobyns WB, Edvardson S, Pines O, Elpeleg O.

Am J Hum Genet. 2010 Nov 12;87(5):667-70. doi: 10.1016/j.ajhg.2010.09.016. Epub 2010 Oct 14.

18.

A splice site mutation in the murine Opa1 gene features pathology of autosomal dominant optic atrophy.

Alavi MV, Bette S, Schimpf S, Schuettauf F, Schraermeyer U, Wehrl HF, Ruttiger L, Beck SC, Tonagel F, Pichler BJ, Knipper M, Peters T, Laufs J, Wissinger B.

Brain. 2007 Apr;130(Pt 4):1029-42. Epub 2007 Feb 21.

PMID:
17314202
19.

Somatic cell mapping of the mitochondrial aconitase gene (ACO2) to bovine chromosome 5.

Ryan AM, Womack JE.

Anim Genet. 1994 Jun;25(3):197. No abstract available.

PMID:
7943961
20.

Biallelic SZT2 mutations cause infantile encephalopathy with epilepsy and dysmorphic corpus callosum.

Basel-Vanagaite L, Hershkovitz T, Heyman E, Raspall-Chaure M, Kakar N, Smirin-Yosef P, Vila-Pueyo M, Kornreich L, Thiele H, Bode H, Lagovsky I, Dahary D, Haviv A, Hubshman MW, Pasmanik-Chor M, Nürnberg P, Gothelf D, Kubisch C, Shohat M, Macaya A, Borck G.

Am J Hum Genet. 2013 Sep 5;93(3):524-9. doi: 10.1016/j.ajhg.2013.07.005. Epub 2013 Aug 8.

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