171 related articles for article (PubMed ID: 23393310)
1. 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. PubMed ID: 23393310
[TBL] [Abstract][Full Text] [Related]
2. A novel homozygous SLC25A1 mutation with impaired mitochondrial complex V: Possible phenotypic expansion.
Cohen I; Staretz-Chacham O; Wormser O; Perez Y; Saada A; Kadir R; Birk OS
Am J Med Genet A; 2018 Feb; 176(2):330-336. PubMed ID: 29226520
[TBL] [Abstract][Full Text] [Related]
3. Deficiency in SLC25A1, encoding the mitochondrial citrate carrier, causes combined D-2- and L-2-hydroxyglutaric aciduria.
Nota B; Struys EA; Pop A; Jansen EE; Fernandez Ojeda MR; Kanhai WA; Kranendijk M; van Dooren SJ; Bevova MR; Sistermans EA; Nieuwint AW; Barth M; Ben-Omran T; Hoffmann GF; de Lonlay P; McDonald MT; Meberg A; Muntau AC; Nuoffer JM; Parini R; Read MH; Renneberg A; Santer R; Strahleck T; van Schaftingen E; van der Knaap MS; Jakobs C; Salomons GS
Am J Hum Genet; 2013 Apr; 92(4):627-31. PubMed ID: 23561848
[TBL] [Abstract][Full Text] [Related]
4. Manifestation of recessive combined D-2-, L-2-hydroxyglutaric aciduria in combination with 22q11.2 deletion syndrome.
Eguchi M; Ozaki E; Yamauchi T; Ohta M; Higaki T; Masuda K; Imoto I; Ishii E; Eguchi-Ishimae M
Am J Med Genet A; 2018 Feb; 176(2):351-358. PubMed ID: 29265763
[TBL] [Abstract][Full Text] [Related]
5. Novel de novo SPOCK1 mutation in a proband with developmental delay, microcephaly and agenesis of corpus callosum.
Dhamija R; Graham JM; Smaoui N; Thorland E; Kirmani S
Eur J Med Genet; 2014 Mar; 57(4):181-4. PubMed ID: 24583203
[TBL] [Abstract][Full Text] [Related]
6. A conserved role for the mitochondrial citrate transporter Sea/SLC25A1 in the maintenance of chromosome integrity.
Morciano P; Carrisi C; Capobianco L; Mannini L; Burgio G; Cestra G; De Benedetto GE; Corona DF; Musio A; Cenci G
Hum Mol Genet; 2009 Nov; 18(21):4180-8. PubMed ID: 19654186
[TBL] [Abstract][Full Text] [Related]
7. SLC1A4 mutations cause a novel disorder of intellectual disability, progressive microcephaly, spasticity and thin corpus callosum.
Heimer G; Marek-Yagel D; Eyal E; Barel O; Oz Levi D; Hoffmann C; Ruzzo EK; Ganelin-Cohen E; Lancet D; Pras E; Rechavi G; Nissenkorn A; Anikster Y; Goldstein DB; Ben Zeev B
Clin Genet; 2015 Oct; 88(4):327-35. PubMed ID: 26138499
[TBL] [Abstract][Full Text] [Related]
8. Mitochondrial Citrate Transporter-dependent Metabolic Signature in the 22q11.2 Deletion Syndrome.
Napoli E; Tassone F; Wong S; Angkustsiri K; Simon TJ; Song G; Giulivi C
J Biol Chem; 2015 Sep; 290(38):23240-53. PubMed ID: 26221035
[TBL] [Abstract][Full Text] [Related]
9. Novel ABCD1 Gene Mutation in Adrenomyeloneuropathy with Hypoplasia and Agenesis of the Corpus Callosum.
Qiu Y; Xin L; Wang Y; Yu Y; Zou K; Zhou Q; Chen Y; Chen S; Zhu M; Hong D
Neurodegener Dis; 2018; 18(2-3):156-164. PubMed ID: 29966135
[TBL] [Abstract][Full Text] [Related]
10. An overview of combined D-2- and L-2-hydroxyglutaric aciduria: functional analysis of CIC variants.
Pop A; Williams M; Struys EA; Monné M; Jansen EEW; De Grassi A; Kanhai WA; Scarcia P; Ojeda MRF; Porcelli V; van Dooren SJM; Lennertz P; Nota B; Abdenur JE; Coman D; Das AM; El-Gharbawy A; Nuoffer JM; Polic B; Santer R; Weinhold N; Zuccarelli B; Palmieri F; Palmieri L; Salomons GS
J Inherit Metab Dis; 2018 Mar; 41(2):169-180. PubMed ID: 29238895
[TBL] [Abstract][Full Text] [Related]
11. Neuropathological hallmarks of antenatal mitochondrial diseases with a corpus callosum defect.
Boutaud L; Ruzzenente B; Tessier A; Anselem O; Pannier E; Grotto S; Talhi N; Amram D; Willems M; Wells C; Blanchet P; Musizzano Y; Jauny C; Nitschke P; Bole-Feysot C; Bessières B; Salhi H; Achaiaa A; Metodiev MD; Razavi F; Rötig A; Loeuilllet L; Attié-Bitach T
Brain; 2023 May; 146(5):1804-1811. PubMed ID: 36349561
[TBL] [Abstract][Full Text] [Related]
12. Pathogenic mutations of the human mitochondrial citrate carrier SLC25A1 lead to impaired citrate export required for lipid, dolichol, ubiquinone and sterol synthesis.
Majd H; King MS; Smith AC; Kunji ERS
Biochim Biophys Acta Bioenerg; 2018 Jan; 1859(1):1-7. PubMed ID: 29031613
[TBL] [Abstract][Full Text] [Related]
13. Combined D2-/L2-hydroxyglutaric aciduria (SLC25A1 deficiency): clinical course and effects of citrate treatment.
Mühlhausen C; Salomons GS; Lukacs Z; Struys EA; van der Knaap MS; Ullrich K; Santer R
J Inherit Metab Dis; 2014 Sep; 37(5):775-81. PubMed ID: 24687295
[TBL] [Abstract][Full Text] [Related]
14. 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. PubMed ID: 25351951
[TBL] [Abstract][Full Text] [Related]
15. Exome sequencing study of partial agenesis of the corpus callosum in men with developmental delay, epilepsy, and microcephaly.
Meloche J; Brunet V; Gagnon PA; Lavoie MÈ; Bouchard JB; Nadaf J; Majewski J; Morin C; Laprise C
Mol Genet Genomic Med; 2020 Jan; 8(1):e992. PubMed ID: 31578829
[TBL] [Abstract][Full Text] [Related]
16. Mitochondrial DNA content is decreased in autosomal dominant optic atrophy.
Kim JY; Hwang JM; Ko HS; Seong MW; Park BJ; Park SS
Neurology; 2005 Mar; 64(6):966-72. PubMed ID: 15781809
[TBL] [Abstract][Full Text] [Related]
17. Whole-exome sequencing identifies mutated c12orf57 in recessive corpus callosum hypoplasia.
Akizu N; Shembesh NM; Ben-Omran T; Bastaki L; Al-Tawari A; Zaki MS; Koul R; Spencer E; Rosti RO; Scott E; Nickerson E; Gabriel S; da Gente G; Li J; Deardorff MA; Conlin LK; Horton MA; Zackai EH; Sherr EH; Gleeson JG
Am J Hum Genet; 2013 Mar; 92(3):392-400. PubMed ID: 23453666
[TBL] [Abstract][Full Text] [Related]
18. EARS2 mutations cause fatal neonatal lactic acidosis, recurrent hypoglycemia and agenesis of corpus callosum.
Danhauser K; Haack TB; Alhaddad B; Melcher M; Seibt A; Strom TM; Meitinger T; Klee D; Mayatepek E; Prokisch H; Distelmaier F
Metab Brain Dis; 2016 Jun; 31(3):717-21. PubMed ID: 26780086
[TBL] [Abstract][Full Text] [Related]
19. Lissencephaly with marked ventricular dilation, agenesis of corpus callosum, and cerebellar hypoplasia caused by TUBA1A mutation.
Okumura A; Hayashi M; Tsurui H; Yamakawa Y; Abe S; Kudo T; Suzuki R; Shimizu T; Shimojima K; Yamamoto T
Brain Dev; 2013 Mar; 35(3):274-9. PubMed ID: 22633752
[TBL] [Abstract][Full Text] [Related]
20. The yeast mitochondrial citrate transport protein: molecular determinants of its substrate specificity.
Aluvila S; Kotaria R; Sun J; Mayor JA; Walters DE; Harrison DHT; Kaplan RS
J Biol Chem; 2010 Aug; 285(35):27314-27326. PubMed ID: 20551333
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]