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Items: 50

1.

Two human patient mitochondrial pyruvate carrier mutations reveal distinct molecular mechanisms of dysfunction.

Oonthonpan L, Rauckhorst AJ, Gray LR, Boutron AC, Taylor EB.

JCI Insight. 2019 May 30;5. pii: 126132. doi: 10.1172/jci.insight.126132.

2.

Carnitine palmitoyltransferase type 2 deficiency: novel mutation in a Native South American family with whole-body muscle magnetic resonance imaging findings: two case reports.

Avila-Smirnow D, Boutron A, Beytía-Reyes MLÁ, Contreras-Olea O, Caicedo-Feijoo A, Gejman-Enríquez R, Escobar-Henríquez R, Förster-Mujica J.

J Med Case Rep. 2018 Aug 28;12(1):249. doi: 10.1186/s13256-018-1702-3.

3.

Prenatal sonographic description of fetuses affected by pyruvate dehydrogenase or pyruvate carboxylase deficiency.

Egloff C, Eldin de Pecoulas A, Mechler C, Tassin M, Mairovitz V, Corrizi F, Dussaux C, Boutron A, Simon I, Guet A, Sibiude J, Mandelbrot L, Picone O.

Prenat Diagn. 2018 May 12. doi: 10.1002/pd.5282. [Epub ahead of print]

PMID:
29752808
4.

Fluxomic assay-assisted diagnosis orientation in a cohort of 11 patients with myopathic form of CPT2 deficiency.

Fontaine M, Kim I, Dessein AF, Mention-Mulliez K, Dobbelaere D, Douillard C, Sole G, Schiff M, Jaussaud R, Espil-Taris C, Boutron A, Wuyts W, Acquaviva C, Vianey-Saban C, Roland D, Joncquel-Chevalier Curt M, Vamecq J.

Mol Genet Metab. 2018 Apr;123(4):441-448. doi: 10.1016/j.ymgme.2018.02.005. Epub 2018 Feb 12.

PMID:
29478820
5.

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. doi: 10.1016/j.ymgme.2017.08.001. Epub 2017 Aug 3.

PMID:
28803783
6.

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 3;101(2):283-290. doi: 10.1016/j.ajhg.2017.07.001. Epub 2017 Jul 27.

7.

Assembly defects of multiple respiratory chain complexes in a child with cardiac hypertrophy associated with a novel ACAD9 mutation.

Fragaki K, Chaussenot A, Boutron A, Bannwarth S, Rouzier C, Chabrol B, Paquis-Flucklinger V.

Mol Genet Metab. 2017 Jul;121(3):224-226. doi: 10.1016/j.ymgme.2017.05.002. Epub 2017 May 4.

PMID:
28529009
8.

Ketone Bodies as a Possible Adjuvant to Ketogenic Diet in PDHc Deficiency but Not in GLUT1 Deficiency.

Habarou F, Bahi-Buisson N, Lebigot E, Pontoizeau C, Abi-Warde MT, Brassier A, Le Quan Sang KH, Broissand C, Vuillaumier-Barrot S, Roubertie A, Boutron A, Ottolenghi C, de Lonlay P.

JIMD Rep. 2018;38:53-59. doi: 10.1007/8904_2017_30. Epub 2017 May 17.

9.

A somatic mosaicism in the G6PD gene inducing a late onset chronic non-spherocytic hemolytic anemia.

Couronné L, Tertian G, Boutron A, Picard V, Ouled-Haddou H, Hughes P, Hermine O, Préhu C, Tchernia G, Garçon L.

Am J Hematol. 2017 Aug;92(8):E153-E155. doi: 10.1002/ajh.24760. Epub 2017 Jun 1. No abstract available.

10.

UQCRC2 mutation in a patient with mitochondrial complex III deficiency causing recurrent liver failure, lactic acidosis and hypoglycemia.

Gaignard P, Eyer D, Lebigot E, Oliveira C, Therond P, Boutron A, Slama A.

J Hum Genet. 2017 Jul;62(7):729-731. doi: 10.1038/jhg.2017.22. Epub 2017 Mar 9.

PMID:
28275242
11.

E4F1 controls a transcriptional program essential for pyruvate dehydrogenase activity.

Lacroix M, Rodier G, Kirsh O, Houles T, Delpech H, Seyran B, Gayte L, Casas F, Pessemesse L, Heuillet M, Bellvert F, Portais JC, Berthet C, Bernex F, Brivet M, Boutron A, Le Cam L, Sardet C.

Proc Natl Acad Sci U S A. 2016 Sep 27;113(39):10998-1003. doi: 10.1073/pnas.1602754113. Epub 2016 Sep 12.

12.

Severe defect in mitochondrial complex I assembly with mitochondrial DNA deletions in ACAD9-deficient mild myopathy.

Fragaki K, Chaussenot A, Boutron A, Bannwarth S, Cochaud C, Richelme C, Sacconi S, Paquis-Flucklinger V.

Muscle Nerve. 2017 Jun;55(6):919-922. doi: 10.1002/mus.25262. Epub 2017 Mar 26.

PMID:
27438479
13.

AIP mutations impair AhR signaling in pituitary adenoma patients fibroblasts and in GH3 cells.

Lecoq AL, Viengchareun S, Hage M, Bouligand J, Young J, Boutron A, Zizzari P, Lombès M, Chanson P, Kamenický P.

Endocr Relat Cancer. 2016 May;23(5):433-43. doi: 10.1530/ERC-16-0041. Epub 2016 Apr 14.

PMID:
27080473
14.

SLC25A32 Mutations and Riboflavin-Responsive Exercise Intolerance.

Schiff M, Veauville-Merllié A, Su CH, Tzagoloff A, Rak M, Ogier de Baulny H, Boutron A, Smedts-Walters H, Romero NB, Rigal O, Rustin P, Vianey-Saban C, Acquaviva-Bourdain C.

N Engl J Med. 2016 Feb 25;374(8):795-7. doi: 10.1056/NEJMc1513610. No abstract available.

15.

Phenotypic and Neuropathological Characterization of Fetal Pyruvate Dehydrogenase Deficiency.

Pirot N, Crahes M, Adle-Biassette H, Soares A, Bucourt M, Boutron A, Carbillon L, Mignot C, Trestard L, Bekri S, Laquerrière A.

J Neuropathol Exp Neurol. 2016 Mar;75(3):227-38. doi: 10.1093/jnen/nlv022. Epub 2016 Feb 9.

PMID:
26865159
16.

Mitochondrial trifunctional protein deficiency in human cultured fibroblasts: effects of bezafibrate.

Djouadi F, Habarou F, Le Bachelier C, Ferdinandusse S, Schlemmer D, Benoist JF, Boutron A, Andresen BS, Visser G, de Lonlay P, Olpin S, Fukao T, Yamaguchi S, Strauss AW, Wanders RJ, Bastin J.

J Inherit Metab Dis. 2016 Jan;39(1):47-58. doi: 10.1007/s10545-015-9871-3. Epub 2015 Jun 25.

PMID:
26109258
17.

New spastic paraplegia phenotype associated to mutation of NFU1.

Tonduti D, Dorboz I, Imbard A, Slama A, Boutron A, Pichard S, Elmaleh M, Vallée L, Benoist JF, Ogier H, Boespflug-Tanguy O.

Orphanet J Rare Dis. 2015 Feb 8;10:13. doi: 10.1186/s13023-015-0237-6.

18.

Fructose 1,6-bisphosphatase deficiency: clinical, biochemical and genetic features in French patients.

Lebigot E, Brassier A, Zater M, Imanci D, Feillet F, Thérond P, de Lonlay P, Boutron A.

J Inherit Metab Dis. 2015 Sep;38(5):881-7. doi: 10.1007/s10545-014-9804-6. Epub 2015 Jan 20.

PMID:
25601412
19.

Phenylbutyrate increases pyruvate dehydrogenase complex activity in cells harboring a variety of defects.

Ferriero R, Boutron A, Brivet M, Kerr D, Morava E, Rodenburg RJ, Bonafé L, Baumgartner MR, Anikster Y, Braverman NE, Brunetti-Pierri N.

Ann Clin Transl Neurol. 2014 Jul;1(7):462-70. doi: 10.1002/acn3.73. Epub 2014 Jun 19.

20.

Leukoencephalopathy with cysts and hyperglycinemia may result from NFU1 deficiency.

Nizon M, Boutron A, Boddaert N, Slama A, Delpech H, Sardet C, Brassier A, Habarou F, Delahodde A, Correia I, Ottolenghi C, de Lonlay P.

Mitochondrion. 2014 Mar;15:59-64. doi: 10.1016/j.mito.2014.01.003. Epub 2014 Jan 22.

PMID:
24462778
21.

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 17;8:192. doi: 10.1186/1750-1172-8-192.

22.

Dihydrolipoamide dehydrogenase deficiency: a still overlooked cause of recurrent acute liver failure and Reye-like syndrome.

Brassier A, Ottolenghi C, Boutron A, Bertrand AM, Valmary-Degano S, Cervoni JP, Chrétien D, Arnoux JB, Hubert L, Rabier D, Lacaille F, de Keyzer Y, Di Martino V, de Lonlay P.

Mol Genet Metab. 2013 May;109(1):28-32. doi: 10.1016/j.ymgme.2013.01.017. Epub 2013 Feb 1.

PMID:
23478190
23.

A Novel Mutation in CPT1A Resulting in Hepatic CPT Deficiency.

Fontaine M, Dessein AF, Douillard C, Dobbelaere D, Brivet M, Boutron A, Zater M, Mention-Mulliez K, Martin-Ponthieu A, Vianey-Saban C, Briand G, Porchet N, Vamecq J.

JIMD Rep. 2012;6:7-14. doi: 10.1007/8904_2011_94. Epub 2012 Jan 31.

24.

Mutation spectrum in the French cohort of galactosemic patients and structural simulation of 27 novel missense variations.

Boutron A, Marabotti A, Facchiano A, Cheillan D, Zater M, Oliveira C, Costa C, Labrune P, Brivet M; French Galactosemia Working Group.

Mol Genet Metab. 2012 Nov;107(3):438-47. doi: 10.1016/j.ymgme.2012.07.025. Epub 2012 Aug 6.

PMID:
22944367
25.

Pyruvate dehydrogenase deficiency caused by a new mutation of PDHX gene in two Moroccan patients.

Tajir M, Arnoux JB, Boutron A, Elalaoui SC, De Lonlay P, Sefiani A, Brivet M.

Eur J Med Genet. 2012 Oct;55(10):535-40. doi: 10.1016/j.ejmg.2012.06.006. Epub 2012 Jul 20.

PMID:
22766002
26.

A mitochondrial pyruvate carrier required for pyruvate uptake in yeast, Drosophila, and humans.

Bricker DK, Taylor EB, Schell JC, Orsak T, Boutron A, Chen YC, Cox JE, Cardon CM, Van Vranken JG, Dephoure N, Redin C, Boudina S, Gygi SP, Brivet M, Thummel CS, Rutter J.

Science. 2012 Jul 6;337(6090):96-100. doi: 10.1126/science.1218099. Epub 2012 May 24.

27.

Molecular characterization of 82 patients with pyruvate dehydrogenase complex deficiency. Structural implications of novel amino acid substitutions in E1 protein.

Imbard A, Boutron A, Vequaud C, Zater M, de Lonlay P, de Baulny HO, Barnerias C, Miné M, Marsac C, Saudubray JM, Brivet M.

Mol Genet Metab. 2011 Dec;104(4):507-16. doi: 10.1016/j.ymgme.2011.08.008. Epub 2011 Aug 18.

PMID:
21914562
28.

Comprehensive cDNA study and quantitative analysis of mutant HADHA and HADHB transcripts in a French cohort of 52 patients with mitochondrial trifunctional protein deficiency.

Boutron A, Acquaviva C, Vianey-Saban C, de Lonlay P, de Baulny HO, Guffon N, Dobbelaere D, Feillet F, Labarthe F, Lamireau D, Cano A, de Villemeur TB, Munnich A, Saudubray JM, Rabier D, Rigal O, Brivet M.

Mol Genet Metab. 2011 Aug;103(4):341-8. doi: 10.1016/j.ymgme.2011.04.006. Epub 2011 Apr 19.

PMID:
21549624
29.

Thiamine responsive pyruvate dehydrogenase deficiency in an adult with peripheral neuropathy and optic neuropathy.

Sedel F, Challe G, Mayer JM, Boutron A, Fontaine B, Saudubray JM, Brivet M.

J Neurol Neurosurg Psychiatry. 2008 Jul;79(7):846-7. doi: 10.1136/jnnp.2007.136630. No abstract available.

PMID:
18559466
30.

Two silent substitutions in the PDHA1 gene cause exon 5 skipping by disruption of a putative exonic splicing enhancer.

Boichard A, Venet L, Naas T, Boutron A, Chevret L, de Baulny HO, De Lonlay P, Legrand A, Nordman P, Brivet M.

Mol Genet Metab. 2008 Mar;93(3):323-30. Epub 2007 Nov 26.

PMID:
18023225
31.

The deleterious G15498A mutation in mitochondrial DNA-encoded cytochrome b may remain clinically silent in homoplasmic carriers.

Haut S, de Villemeur TB, Brivet M, Guiochon-Mantel A, Boutron A, Rustin P, Legrand A, Slama A.

Eur J Hum Genet. 2004 Mar;12(3):220-4.

32.

A deletion in the human QP-C gene causes a complex III deficiency resulting in hypoglycaemia and lactic acidosis.

Haut S, Brivet M, Touati G, Rustin P, Lebon S, Garcia-Cazorla A, Saudubray JM, Boutron A, Legrand A, Slama A.

Hum Genet. 2003 Jul;113(2):118-22. Epub 2003 Apr 23.

PMID:
12709789
33.

Impaired mitochondrial pyruvate importation in a patient and a fetus at risk.

Brivet M, Garcia-Cazorla A, Lyonnet S, Dumez Y, Nassogne MC, Slama A, Boutron A, Touati G, Legrand A, Saudubray JM.

Mol Genet Metab. 2003 Mar;78(3):186-92.

PMID:
12649063
34.

Differential effect of DCA treatment on the pyruvate dehydrogenase complex in patients with severe PDHC deficiency.

Fouque F, Brivet M, Boutron A, Vequaud C, Marsac C, Zabot MT, Benelli C.

Pediatr Res. 2003 May;53(5):793-9. Epub 2003 Mar 5.

PMID:
12621116
35.

Mutational spectrum and DNA-based prenatal diagnosis in carnitine-acylcarnitine translocase deficiency.

Costa C, Costa JM, Slama A, Boutron A, Vequaud C, Legrand A, Brivet M.

Mol Genet Metab. 2003 Jan;78(1):68-73.

PMID:
12559850
36.

Defects in activation and transport of fatty acids.

Brivet M, Boutron A, Slama A, Costa C, Thuillier L, Demaugre F, Rabier D, Saudubray JM, Bonnefont JP.

J Inherit Metab Dis. 1999 Jun;22(4):428-41. Review.

PMID:
10407779
37.

Identification of the molecular defect in a severe case of carnitine-acylcarnitine carrier deficiency.

Costa C, Costa JM, Nuoffer JM, Slama A, Boutron A, Saudubray JM, Legrand A, Brivet M.

J Inherit Metab Dis. 1999 May;22(3):267-70. No abstract available.

PMID:
10384384
38.

Interleukin-1 beta and interleukin-6 stimulate 2-methylaminoisobutyric acid uptake in HepG2 cells.

Goenner S, Cosson C, Boutron A, Legrand A, Moatti N.

Int J Biochem Cell Biol. 1997 Apr;29(4):667-74.

PMID:
9363644
39.

Complementation analysis of carnitine palmitoyltransferase I and II defects.

Slama A, Brivet M, Boutron A, Legrand A, Saudubray JM, Demaugre F.

Pediatr Res. 1996 Oct;40(4):542-6.

PMID:
8888280
40.

Retrospective diagnosis of carnitine-acylcarnitine translocase deficiency by acylcarnitine analysis in the proband Guthrie card and enzymatic studies in the parents.

Brivet M, Slama A, Millington DS, Roe CR, Demaugre F, Legrand A, Boutron A, Poggi F, Saudubray JM.

J Inherit Metab Dis. 1996;19(2):181-4. No abstract available.

PMID:
8739960
41.

Diagnosis of carnitine acylcarnitine translocase deficiency by complementation analysis.

Brivet M, Slama A, Ogier H, Boutron A, Demaugre F, Saudubray JM, Lemonnier A.

J Inherit Metab Dis. 1994;17(3):271-4. No abstract available.

PMID:
7807931
42.

[Production of oxygenated free radicals and the role of exogenous antioxidants in liver transplantation in rats].

Yandza T, Boutron A, Conti M, Fabre M, Lambotte L, Lemonnier A, Martin E, Valayer J.

Chirurgie. 1993-1994;119(3):109-12. French.

PMID:
7995115
43.

Amino acid transport systems in the human hepatoma cell line Hep G2.

Goenner S, Boutron A, Soni T, Lemonnier A, Moatti N.

Biochem Biophys Res Commun. 1992 Nov 30;189(1):472-9.

PMID:
1333197
44.

Lipase/amylase ratio in pancreatitis: an etiologic index?

Laurent-Puig P, Boutron A, Briantais MJ, Vahedi K, Fritsch J, Choury AD, Pelletier G, Buffet C.

Gastroenterology. 1992 Jul;103(1):353-4. No abstract available.

PMID:
1377146
45.

Interleukin-1 beta-induced changes in the kinetic constants of L-proline uptake in human skin fibroblasts.

Fénéant-Thibault M, Galera P, Maccario J, Boutron A, Pujol JP, Moatti N.

Biochem J. 1991 May 15;276 ( Pt 1):57-62.

46.

Riboflavin responsive ethylmalonic-adipic aciduria in a 9-month-old boy with liver cirrhosis, myopathy and encephalopathy.

Brivet M, Tardieu M, Khellaf A, Boutron A, Rocchiccioli F, Haengeli CA, Lemonnier A.

J Inherit Metab Dis. 1991;14(3):333-7. No abstract available.

PMID:
1770786
47.

Mitochondrial aspartate aminotransferase in nonalcoholic cirrhosis.

Cadiot G, Ink O, Boutron A, Hanny P, Laurent-Puig P, Buffet C.

Gastroenterology. 1989 Jul;97(1):240-1. No abstract available.

PMID:
2721872
48.

[Role of the serum level of mitochondrial aspartate aminotransferase as marker of alcoholic intoxication in cirrhotic patients].

Ink O, Boutron A, Hanny P, Goenner S, Buffet C.

Presse Med. 1989 Jan 28;18(3):111-4. French.

PMID:
2563911
49.

[Serum activity of mitochondrial aspartate aminotransferase and extrahepatic cholestasis].

Hanny P, Ink O, Goenner S, Boutron A, Buffet C.

Gastroenterol Clin Biol. 1989 Jan;13(1):66-70. French.

PMID:
2925044
50.

[Aminotransferase aspartate of mitochondrial origin and anticonvulsant therapy].

Buffet C, Hanny P, Boutron A, Ink J.

Gastroenterol Clin Biol. 1988 Mar;12(3):294-5. French. No abstract available.

PMID:
3371605

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