These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
109 related articles for article (PubMed ID: 24973975)
1. Erratum to: AGC1 Deficiency Causes Infantile Epilepsy, Abnormal Myelination, and Reduced N-Acetylaspartate. Falk MJ; Li D; Gai X; McCormick E; Place E; Lasorsa FM; Otieno FG; Hou C; Kim CE; Abdel-Magid N; Vazquez L; Mentch FD; Chiavacci R; Liang J; Liu X; Jiang H; Giannuzzi G; Marsh ED; Guo Y; Tian L; Palmieri F; Hakonarson H JIMD Rep; 2014; 14():119. PubMed ID: 24973975 [No Abstract] [Full Text] [Related]
2. AGC1 Deficiency Causes Infantile Epilepsy, Abnormal Myelination, and Reduced N-Acetylaspartate. Falk MJ; Li D; Gai X; McCormick E; Place E; Lasorsa FM; Otieno FG; Hou C; Kim CE; Abdel-Magid N; Vazquez L; Mentch FD; Chiavacci R; Liang J; Liu X; Jiang H; Giannuzzi G; Marsh ED; Yiran G; Tian L; Palmieri F; Hakonarson H JIMD Rep; 2014; 14():77-85. PubMed ID: 24515575 [TBL] [Abstract][Full Text] [Related]
3. The ketogenic diet compensates for AGC1 deficiency and improves myelination. Dahlin M; Martin DA; Hedlund Z; Jonsson M; von Döbeln U; Wedell A Epilepsia; 2015 Nov; 56(11):e176-81. PubMed ID: 26401995 [TBL] [Abstract][Full Text] [Related]
4. Slc25a12 disruption alters myelination and neurofilaments: a model for a hypomyelination syndrome and childhood neurodevelopmental disorders. Sakurai T; Ramoz N; Barreto M; Gazdoiu M; Takahashi N; Gertner M; Dorr N; Gama Sosa MA; De Gasperi R; Perez G; Schmeidler J; Mitropoulou V; Le HC; Lupu M; Hof PR; Elder GA; Buxbaum JD Biol Psychiatry; 2010 May; 67(9):887-94. PubMed ID: 20015484 [TBL] [Abstract][Full Text] [Related]
5. Deficiency of Mitochondrial Aspartate-Glutamate Carrier 1 Leads to Oligodendrocyte Precursor Cell Proliferation Defects Both In Vitro and In Vivo. Petralla S; Peña-Altamira LE; Poeta E; Massenzio F; Virgili M; Barile SN; Sbano L; Profilo E; Corricelli M; Danese A; Giorgi C; Ostan R; Capri M; Pinton P; Palmieri F; Lasorsa FM; Monti B Int J Mol Sci; 2019 Sep; 20(18):. PubMed ID: 31514314 [TBL] [Abstract][Full Text] [Related]
6. βOHB Protective Pathways in Aralar-KO Neurons and Brain: An Alternative to Ketogenic Diet. Pérez-Liébana I; Casarejos MJ; Alcaide A; Herrada-Soler E; Llorente-Folch I; Contreras L; Satrústegui J; Pardo B J Neurosci; 2020 Nov; 40(48):9293-9305. PubMed ID: 33087477 [TBL] [Abstract][Full Text] [Related]
7. AGC1 deficiency associated with global cerebral hypomyelination. Wibom R; Lasorsa FM; Töhönen V; Barbaro M; Sterky FH; Kucinski T; Naess K; Jonsson M; Pierri CL; Palmieri F; Wedell A N Engl J Med; 2009 Jul; 361(5):489-95. PubMed ID: 19641205 [TBL] [Abstract][Full Text] [Related]
8. Deficiency of the mitochondrial transporter of aspartate/glutamate aralar/AGC1 causes hypomyelination and neuronal defects unrelated to myelin deficits in mouse brain. Ramos M; Pardo B; Llorente-Folch I; Saheki T; Del Arco A; Satrústegui J J Neurosci Res; 2011 Dec; 89(12):2008-17. PubMed ID: 21608011 [TBL] [Abstract][Full Text] [Related]
9. ARALAR/AGC1 deficiency, a neurodevelopmental disorder with severe impairment of neuronal mitochondrial respiration, does not produce a primary increase in brain lactate. Juaristi I; García-Martín ML; Rodrigues TB; Satrústegui J; Llorente-Folch I; Pardo B J Neurochem; 2017 Jul; 142(1):132-139. PubMed ID: 28429368 [TBL] [Abstract][Full Text] [Related]
10. The Phe932Ile mutation in KCNT1 channels associated with severe epilepsy, delayed myelination and leukoencephalopathy produces a loss-of-function channel phenotype. Evely KM; Pryce KD; Bhattacharjee A Neuroscience; 2017 May; 351():65-70. PubMed ID: 28366665 [TBL] [Abstract][Full Text] [Related]
12. De novo mutations of TUBB2A cause infantile-onset epilepsy and developmental delay. Cai S; Li J; Wu Y; Jiang Y J Hum Genet; 2020 Jul; 65(7):601-608. PubMed ID: 32203252 [TBL] [Abstract][Full Text] [Related]
13. Silencing of the mitochondrial NADH shuttle component aspartate-glutamate carrier AGC1/Aralar1 in INS-1E cells and rat islets. Casimir M; Rubi B; Frigerio F; Chaffard G; Maechler P Biochem J; 2009 Dec; 424(3):459-66. PubMed ID: 19764902 [TBL] [Abstract][Full Text] [Related]
14. Transport of N-acetylaspartate by the Na(+)-dependent high-affinity dicarboxylate transporter NaDC3 and its relevance to the expression of the transporter in the brain. Huang W; Wang H; Kekuda R; Fei YJ; Friedrich A; Wang J; Conway SJ; Cameron RS; Leibach FH; Ganapathy V J Pharmacol Exp Ther; 2000 Oct; 295(1):392-403. PubMed ID: 10992006 [TBL] [Abstract][Full Text] [Related]
15. Identification of a novel de novo p.Phe932Ile KCNT1 mutation in a patient with leukoencephalopathy and severe epilepsy. Vanderver A; Simons C; Schmidt JL; Pearl PL; Bloom M; Lavenstein B; Miller D; Grimmond SM; Taft RJ Pediatr Neurol; 2014 Jan; 50(1):112-4. PubMed ID: 24120652 [TBL] [Abstract][Full Text] [Related]
16. AGC1 deficiency and cerebral hypomyelination. Wolf NI; van der Knaap MS N Engl J Med; 2009 Nov; 361(20):1997-8; author reply 1998. PubMed ID: 19907050 [No Abstract] [Full Text] [Related]