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Page 1
Compromised mitochondrial quality control triggers lipin1-related rhabdomyolysis.
Hamel Y, Mauvais FX, Madrange M, Renard P, Lebreton C, Nemazanyy I, Pellé O, Goudin N, Tang X, Rodero MP, Tuchmann-Durand C, Nusbaum P, Brindley DN, van Endert P, de Lonlay P. Hamel Y, et al. Among authors: de lonlay p. Cell Rep Med. 2021 Aug 17;2(8):100370. doi: 10.1016/j.xcrm.2021.100370. eCollection 2021 Aug 17. Cell Rep Med. 2021. PMID: 34467247 Free PMC article.
Fatal rhabdomyolysis in 2 children with LPIN1 mutations.
Bergounioux J, Brassier A, Rambaud C, Bustarret O, Michot C, Hubert L, Arnoux JB, Laquerriere A, Bekri S, Galene-Gromez S, Bonnet D, Hubert P, de Lonlay P. Bergounioux J, et al. Among authors: de lonlay p. J Pediatr. 2012 Jun;160(6):1052-4. doi: 10.1016/j.jpeds.2012.02.033. Epub 2012 Apr 4. J Pediatr. 2012. PMID: 22480698
A thermolabile aldolase A mutant causes fever-induced recurrent rhabdomyolysis without hemolytic anemia.
Mamoune A, Bahuau M, Hamel Y, Serre V, Pelosi M, Habarou F, Nguyen Morel MA, Boisson B, Vergnaud S, Viou MT, Nonnenmacher L, Piraud M, Nusbaum P, Vamecq J, Romero N, Ottolenghi C, Casanova JL, de Lonlay P. Mamoune A, et al. Among authors: de lonlay p. PLoS Genet. 2014 Nov 13;10(11):e1004711. doi: 10.1371/journal.pgen.1004711. eCollection 2014 Nov. PLoS Genet. 2014. PMID: 25392908 Free PMC article.
Acute rhabdomyolysis and inflammation.
Hamel Y, Mamoune A, Mauvais FX, Habarou F, Lallement L, Romero NB, Ottolenghi C, de Lonlay P. Hamel Y, et al. Among authors: de lonlay p. J Inherit Metab Dis. 2015 Jul;38(4):621-8. doi: 10.1007/s10545-015-9827-7. Epub 2015 Mar 17. J Inherit Metab Dis. 2015. PMID: 25778939 Review.
A unique CD8(+) T lymphocyte signature in pediatric type 1 diabetes.
Hamel Y, Mauvais FX, Pham HP, Kratzer R, Marchi C, Barilleau É, Waeckel-Enée E, Arnoux JB, Hartemann A, Cordier C, Mégret J, Rocha B, de Lonlay P, Beltrand J, Six A, Robert JJ, van Endert P. Hamel Y, et al. Among authors: de lonlay p. J Autoimmun. 2016 Sep;73:54-63. doi: 10.1016/j.jaut.2016.06.003. Epub 2016 Jun 16. J Autoimmun. 2016. PMID: 27318739
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. Habarou F, et al. Among authors: 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. Am J Hum Genet. 2017. PMID: 28757203 Free PMC article.
Cardiac function and exercise adaptation in 8 children with LPIN1 mutations.
Legendre A, Khraiche D, Ou P, Mauvais FX, Madrange M, Guemann AS, Jais JP, Bonnet D, Hamel Y, de Lonlay P. Legendre A, et al. Among authors: de lonlay p. Mol Genet Metab. 2018 Mar;123(3):375-381. doi: 10.1016/j.ymgme.2017.12.429. Epub 2018 Jan 5. Mol Genet Metab. 2018. PMID: 29325813
Lipin1 deficiency causes sarcoplasmic reticulum stress and chaperone-responsive myopathy.
Rashid T, Nemazanyy I, Paolini C, Tatsuta T, Crespin P, de Villeneuve D, Brodesser S, Benit P, Rustin P, Baraibar MA, Agbulut O, Olivier A, Protasi F, Langer T, Chrast R, de Lonlay P, de Foucauld H, Blaauw B, Pende M. Rashid T, et al. Among authors: de villeneuve d, de lonlay p, de foucauld h. EMBO J. 2019 Jan 3;38(1):e99576. doi: 10.15252/embj.201899576. Epub 2018 Nov 12. EMBO J. 2019. PMID: 30420558 Free PMC article.
Administration of gamma-hydroxybutyrate instead of beta-hydroxybutyrate to a liver transplant recipient suffering from propionic acidemia and cardiomyopathy: A case report on a medication prescribing error.
Tuchmann-Durand C, Thevenet E, Moulin F, Lesage F, Bouchereau J, Oualha M, Khraiche D, Brassier A, Wicker C, Gobin-Limballe S, Arnoux JB, Lacaille F, Wicart C, Coat B, Schlattler J, Cisternino S, Renolleau S, Secretan PH, De Lonlay P. Tuchmann-Durand C, et al. Among authors: de lonlay p. JIMD Rep. 2020 Jan 3;51(1):25-29. doi: 10.1002/jmd2.12090. eCollection 2020 Jan. JIMD Rep. 2020. PMID: 32071836 Free PMC article.
357 results