240 related articles for article (PubMed ID: 28757203)
1. Biallelic Mutations in LIPT2 Cause a Mitochondrial Lipoylation Defect Associated with Severe Neonatal Encephalopathy.
Habarou F; Hamel Y; Haack TB; Feichtinger RG; Lebigot E; Marquardt I; Busiah K; Laroche C; Madrange M; Grisel C; Pontoizeau C; Eisermann M; Boutron A; Chrétien D; Chadefaux-Vekemans B; Barouki R; Bole-Feysot C; Nitschke P; Goudin N; Boddaert N; Nemazanyy I; Delahodde A; Kölker S; Rodenburg RJ; Korenke GC; Meitinger T; Strom TM; Prokisch H; Rotig A; Ottolenghi C; Mayr JA; de Lonlay P
Am J Hum Genet; 2017 Aug; 101(2):283-290. PubMed ID: 28757203
[TBL] [Abstract][Full Text] [Related]
2. Lipoic acid biosynthesis defects.
Mayr JA; Feichtinger RG; Tort F; Ribes A; Sperl W
J Inherit Metab Dis; 2014 Jul; 37(4):553-63. PubMed ID: 24777537
[TBL] [Abstract][Full Text] [Related]
3. Mutations in the lipoyltransferase LIPT1 gene cause a fatal disease associated with a specific lipoylation defect of the 2-ketoacid dehydrogenase complexes.
Tort F; Ferrer-Cortès X; Thió M; Navarro-Sastre A; Matalonga L; Quintana E; Bujan N; Arias A; García-Villoria J; Acquaviva C; Vianey-Saban C; Artuch R; García-Cazorla À; Briones P; Ribes A
Hum Mol Genet; 2014 Apr; 23(7):1907-15. PubMed ID: 24256811
[TBL] [Abstract][Full Text] [Related]
4. Mutations in human lipoyltransferase gene LIPT1 cause a Leigh disease with secondary deficiency for pyruvate and alpha-ketoglutarate dehydrogenase.
Soreze Y; Boutron A; Habarou F; Barnerias C; Nonnenmacher L; Delpech H; Mamoune A; Chrétien D; Hubert L; Bole-Feysot C; Nitschke P; Correia I; Sardet C; Boddaert N; Hamel Y; Delahodde A; Ottolenghi C; de Lonlay P
Orphanet J Rare Dis; 2013 Dec; 8():192. PubMed ID: 24341803
[TBL] [Abstract][Full Text] [Related]
5. Protein moonlighting elucidates the essential human pathway catalyzing lipoic acid assembly on its cognate enzymes.
Cao X; Zhu L; Song X; Hu Z; Cronan JE
Proc Natl Acad Sci U S A; 2018 Jul; 115(30):E7063-E7072. PubMed ID: 29987032
[TBL] [Abstract][Full Text] [Related]
6. Genetic dissection of the mitochondrial lipoylation pathway in yeast.
Pietikäinen LP; Rahman MT; Hiltunen JK; Dieckmann CL; Kastaniotis AJ
BMC Biol; 2021 Jan; 19(1):14. PubMed ID: 33487163
[TBL] [Abstract][Full Text] [Related]
7. Variant non ketotic hyperglycinemia is caused by mutations in LIAS, BOLA3 and the novel gene GLRX5.
Baker PR; Friederich MW; Swanson MA; Shaikh T; Bhattacharya K; Scharer GH; Aicher J; Creadon-Swindell G; Geiger E; MacLean KN; Lee WT; Deshpande C; Freckmann ML; Shih LY; Wasserstein M; Rasmussen MB; Lund AM; Procopis P; Cameron JM; Robinson BH; Brown GK; Brown RM; Compton AG; Dieckmann CL; Collard R; Coughlin CR; Spector E; Wempe MF; Van Hove JL
Brain; 2014 Feb; 137(Pt 2):366-79. PubMed ID: 24334290
[TBL] [Abstract][Full Text] [Related]
8. Differential diagnosis of lipoic acid synthesis defects.
Tort F; Ferrer-Cortes X; Ribes A
J Inherit Metab Dis; 2016 Nov; 39(6):781-793. PubMed ID: 27586888
[TBL] [Abstract][Full Text] [Related]
9. LIPT1 deficiency presenting as early infantile epileptic encephalopathy, Leigh disease, and secondary pyruvate dehydrogenase complex deficiency.
Stowe RC; Sun Q; Elsea SH; Scaglia F
Am J Med Genet A; 2018 May; 176(5):1184-1189. PubMed ID: 29681092
[TBL] [Abstract][Full Text] [Related]
10. Protein-protein interactions in assembly of lipoic acid on the 2-oxoacid dehydrogenases of aerobic metabolism.
Hassan BH; Cronan JE
J Biol Chem; 2011 Mar; 286(10):8263-8276. PubMed ID: 21209092
[TBL] [Abstract][Full Text] [Related]
11. Lipoylation of acyltransferase components of alpha-ketoacid dehydrogenase complexes.
Fujiwara K; Okamura-Ikeda K; Motokawa Y
J Biol Chem; 1996 May; 271(22):12932-6. PubMed ID: 8662700
[TBL] [Abstract][Full Text] [Related]
12. Lipoic acid synthesis and attachment in yeast mitochondria.
Schonauer MS; Kastaniotis AJ; Kursu VA; Hiltunen JK; Dieckmann CL
J Biol Chem; 2009 Aug; 284(35):23234-42. PubMed ID: 19570983
[TBL] [Abstract][Full Text] [Related]
13. Progress in the Enzymology of the Mitochondrial Diseases of Lipoic Acid Requiring Enzymes.
Cronan JE
Front Genet; 2020; 11():510. PubMed ID: 32508887
[TBL] [Abstract][Full Text] [Related]
14. Impact of mutations within the [Fe-S] cluster or the lipoic acid biosynthesis pathways on mitochondrial protein expression profiles in fibroblasts from patients.
Lebigot E; Gaignard P; Dorboz I; Slama A; Rio M; de Lonlay P; Héron B; Sabourdy F; Boespflug-Tanguy O; Cardoso A; Habarou F; Ottolenghi C; Thérond P; Bouton C; Golinelli-Cohen MP; Boutron A
Mol Genet Metab; 2017 Nov; 122(3):85-94. PubMed ID: 28803783
[TBL] [Abstract][Full Text] [Related]
15. Expression of mature bovine H-protein of the glycine cleavage system in Escherichia coli and in vitro lipoylation of the apoform.
Fujiwara K; Okamura-Ikeda K; Motokawa Y
J Biol Chem; 1992 Oct; 267(28):20011-6. PubMed ID: 1400316
[TBL] [Abstract][Full Text] [Related]
16. Poldip2 is an oxygen-sensitive protein that controls PDH and αKGDH lipoylation and activation to support metabolic adaptation in hypoxia and cancer.
Paredes F; Sheldon K; Lassègue B; Williams HC; Faidley EA; Benavides GA; Torres G; Sanhueza-Olivares F; Yeligar SM; Griendling KK; Darley-Usmar V; San Martin A
Proc Natl Acad Sci U S A; 2018 Feb; 115(8):1789-1794. PubMed ID: 29434038
[TBL] [Abstract][Full Text] [Related]
17. Mis-targeting of the mitochondrial protein LIPT2 leads to apoptotic cell death.
Bernardinelli E; Costa R; Scantamburlo G; To J; Morabito R; Nofziger C; Doerrier C; Krumschnabel G; Paulmichl M; Dossena S
PLoS One; 2017; 12(6):e0179591. PubMed ID: 28628643
[TBL] [Abstract][Full Text] [Related]
18. Lipoic acid synthetase deficiency causes neonatal-onset epilepsy, defective mitochondrial energy metabolism, and glycine elevation.
Mayr JA; Zimmermann FA; Fauth C; Bergheim C; Meierhofer D; Radmayr D; Zschocke J; Koch J; Sperl W
Am J Hum Genet; 2011 Dec; 89(6):792-7. PubMed ID: 22152680
[TBL] [Abstract][Full Text] [Related]
19. Lipoic acid metabolism in Arabidopsis thaliana: cloning and characterization of a cDNA encoding lipoyltransferase.
Wada M; Yasuno R; Jordan SW; Cronan JE; Wada H
Plant Cell Physiol; 2001 Jun; 42(6):650-6. PubMed ID: 11427685
[TBL] [Abstract][Full Text] [Related]
20. A fatal mitochondrial disease is associated with defective NFU1 function in the maturation of a subset of mitochondrial Fe-S proteins.
Navarro-Sastre A; Tort F; Stehling O; Uzarska MA; Arranz JA; Del Toro M; Labayru MT; Landa J; Font A; Garcia-Villoria J; Merinero B; Ugarte M; Gutierrez-Solana LG; Campistol J; Garcia-Cazorla A; Vaquerizo J; Riudor E; Briones P; Elpeleg O; Ribes A; Lill R
Am J Hum Genet; 2011 Nov; 89(5):656-67. PubMed ID: 22077971
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
