Citations for
1LIAS, LIPT1, LIPT1D, LIPT2, NELABA
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 101(2):283-290. doi: 10.1016/j.ajhg.2017.07.001. Epub 2017 Jul 27. 2017
2LIAS
Influence of Different Levels of Lipoic Acid Synthase Gene Expression on Diabetic Nephropathy.
Xu L, Hiller S, Simington S, Nickeleit V, Maeda N, James LR, Yi X.
PLoS One 11(10):e0163208. doi: 10.1371/journal.pone.0163208. eCollection 2016. 2016
3LIAS, LIASD
Novel compound heterozygous LIAS mutations cause glycine encephalopathy.
Tsurusaki Y, Tanaka R, Shimada S, Shimojima K, Shiina M, Nakashima M, Saitsu H, Miyake N, Ogata K, Yamamoto T, Matsumoto N.
J Hum Genet 60(10):631-5. doi: 10.1038/jhg.2015.72. Epub 2015 Jun 25. 2015
4LIAS, LIASD
Variant non ketotic hyperglycinemia is caused by mutations in LIAS, BOLA3 and the novel gene GLRX5.
Baker PR 2nd, 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 2nd, Spector E, Wempe MF, Van Hove JL.
Brain 137(Pt 2):366-79. doi: 10.1093/brain/awt328. Epub 2013 Dec 11. 2014
5LIAS
Interactions of organophosphates with keratins in the cornified epithelium of human skin.
Verstappen DR, Hulst AG, Fidder A, Vermeulen NP, Noort D.
Chem Biol Interact 197(2-3):93-102. doi: 10.1016/j.cbi.2012.04.001. Epub 2012 Apr 13. 2012
6LIAS, LIASD
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 89(6):792-7. 2011
7LIAS
Reduced Expression of Lipoic Acid Synthase Accelerates Diabetic Nephropathy.
Yi X, Xu L, Hiller S, Kim HS, Nickeleit V, James LR, Maeda N.
J Am Soc Nephrol Am Soc Nephrol. 2011 Oct 21. [Epub ahead of print] 2011
8LIAS
Genetic reduction of lipoic acid synthase expression modestly increases atherosclerosis in male, but not in female, apolipoprotein E-deficient mice.
Yi X, Xu L, Kim K, Kim HS, Maeda N.
Atherosclerosis 211(2):424-30. Epub 2010 Mar 10. 2010
9LIAS
Lipoic acid synthase (LASY): a novel role in inflammation, mitochondrial function, and insulin resistance.
Padmalayam I, Hasham S, Saxena U, Pillarisetti S.
Diabetes 58(3):600-8. Epub 2008 Dec 15. 2009
10LIAS
Do mammalian cells synthesize lipoic acid? Identification of a mouse cDNA encoding a lipoic acid synthase located in mitochondria.
Morikawa T, Yasuno R, Wada H.
FEBS Lett 498(1):16-21. 2001
11ARIH1, DDX52, DIMT1, EIF5B, GLRX3, GPN1, LIAS, NFS1, NLE1, NSA2, NSUN5, TAF5L
Characterization of 16 novel human genes showing high similarity to yeast sequences.
Stanchi F, Bertocco E, Toppo S, Dioguardi R, Simionati B, Cannata N,Zimbello R, Lanfranchi G, Valle G.
Yeast 18(1):69-80. 2001