Joelle Aupetit
Overview
Explore the profile of Joelle Aupetit including associated specialties, affiliations and a list of published articles.
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Articles
6
Citations
134
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0
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Recent Articles
1.
Jezegou A, Llinares E, Anne C, Kieffer-Jaquinod S, ORegan S, Aupetit J, et al.
Proc Natl Acad Sci U S A
. 2012 Nov;
109(50):E3434-43.
PMID: 23169667
Cystinosin, the lysosomal cystine exporter defective in cystinosis, is the founding member of a family of heptahelical membrane proteins related to bacteriorhodopsin and characterized by a duplicated motif termed the...
2.
Structural insights on pathogenic effects of novel mutations causing pyruvate carboxylase deficiency
Monnot S, Serre V, Chadefaux-Vekemans B, Aupetit J, Romano S, de Lonlay P, et al.
Hum Mutat
. 2009 Mar;
30(5):734-40.
PMID: 19306334
Pyruvate carboxylase (PC), a key enzyme for gluconeogenesis and anaplerotic pathways, consists of four domains, namely, biotin carboxylase (BC), carboxyltransferase (CT), pyruvate carboxylase tetramerization (PT), and biotin carboxyl carrier protein...
3.
Santiard-Baron D, Aupetit J, Janel N
Neurosci Res
. 2005 Oct;
53(4):447-9.
PMID: 16213620
Alzheimer's disease (AD) patients tend to have increased plasma levels of homocysteine. However, it is unclear whether abnormality in homocysteine levels is a primary cause of Alzheimer's disease or a...
4.
Robert K, Santiard-Baron D, Chasse J, Paly E, Aupetit J, Kamoun P, et al.
J Neurochem
. 2004 Mar;
89(1):33-43.
PMID: 15030387
Deficiency in cystathionine beta synthase (CBS) leads to high plasma homocysteine concentrations and causes hyperhomocysteinemia, a common risk factor for vascular disease, stroke and possibly neurodegenerative diseases. Various neuronal diseases...
5.
Vekemans B, Bonnefont J, Aupetit J, Royer G, Droin V, Attie-Bitach T, et al.
Prenat Diagn
. 2003 Nov;
23(11):884-7.
PMID: 14634971
Carnitine palmitoyltransferase 2 (CPT2) deficiency, the most common autosomal recessive inherited disease of the mitochondrial long-chain fatty acid (LCFA) beta-oxidation, may result in three distinct clinical phenotypes, namely, a mild...
6.
Robert K, Chasse J, Santiard-Baron D, Vayssettes C, Chabli A, Aupetit J, et al.
J Biol Chem
. 2003 Jun;
278(34):31504-11.
PMID: 12799373
Cystathionine beta-synthase (CBS) deficiency causes severe hyperhomocysteinemia and other signs of homocystinuria syndrome, in particular a premature atherosclerosis with multiple thrombosis. However, the molecular mechanisms by which homocysteine could interfere...