Les nouvelles maladies héréditaires du métabolisme du programme français de dépistage néonatal

Autor: Isabelle Oliver-Petit, Magali Gorce, Jérôme Ausseil, Guy Touati, Pierre Broué

Publikováno v: médecine/sciences
médecine/sciences, 2021, 37 (5), pp.507-518. ⟨10.1051/medsci/2021057⟩

Inborn Errors of Metabolism (IEM) are rare and heterogenous disorders. For most IEMs, clinical signs are non-specific or belated. Late diagnosis is frequent, leading to death or severe sequelae. Some IEM induce intermediate metabolites circulating in

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::deae06826ea2e5b874c9d2718b08c04f
https://doi.org/10.1051/medsci/2021057

Letter to the Editor: Maternally Inherited Diabetes and Deafness is Not Only Biorgan but Multiorgan

Autor: Josef Finsterer, Sinda Zarrouk-Mahjoub

Publikováno v: Acta Médica Portuguesa
Acta Médica Portuguesa, Ordem dos Médicos, 2017, 30 (9), pp.665-666. ⟨10.20344/amp.9716⟩
Acta Médica Portuguesa, Vol 30, Iss 9, Pp 665-666 (2017)

Comment on: Family Phenotypic Heterogeneity Caused by Mitochondrial DNA Mutation A3243G. [Acta Med Port. 2017]; International audience

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c53eb36f83a3b45fe20a2f6593efa0fd
https://hal-riip.archives-ouvertes.fr/pasteur-02055677/document

Pathogenic mutations causing LBSL affect mitochondrial aspartyl-tRNA synthetase in diverse ways

Autor: Catherine Florentz, Marie Sissler, Gert C. Scheper, Agnès Gaudry, Marjo S. van der Knaap, Laura van Berge, Josta T. Kevenaar, Emiel Polder

Publikováno v: Biochemical Journal, 450, 345-350. Portland Press Ltd.
Biochemical Journal
Biochemical Journal, Portland Press, 2013, 450 (2), pp.345-350. ⟨10.1042/BJ20121564⟩
van Berge, L, Kevenaar, J, Polder, E, Gaudry, A, Florentz, C, Sissler, M, van der Knaap, M S & Scheper, G C 2013, ' Pathogenic mutations causing LBSL affect mitochondrial aspartyl-tRNA synthetase in diverse ways ', Biochemical Journal, vol. 450, pp. 345-350 . https://doi.org/10.1042/BJ20121564
Biochemical journal, 450(2), 345-350. Portland Press Ltd.

International audience; The autosomal recessive white matter disorder LBSL (leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation) is caused by mutations in DARS2, coding for mtAspRS (mitochondrial aspartyl-tRNA synthe

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bda7f48fc597a290f363fdfcfebc0761
https://doi.org/10.1042/bj20121564

Doubling diet fat on sugar ratio in children with mitochondrial OXPHOS disorders: Effects of a randomized trial on resting energy expenditure, diet induced thermogenesis and body composition

Autor: Jean-Marie Cuisset, Régis Hankard, Dries Dobbelaere, Laurent Béghin, Karine Mention-Mulliez, Manuel Schiff, Joseph Vamecq, Hélène Ogier, Frédéric Gottrand, Stéphanie Coopman

Publikováno v: Clinical Nutrition
Clinical Nutrition, Elsevier, 2016, 35 (6), pp.1414-1422. ⟨10.1016/j.clnu.2016.03.015⟩
Clinical Nutrition, 2016, 35 (6), pp.1414-1422. ⟨10.1016/j.clnu.2016.03.015⟩

Summary Background & aims Mitochondrial OXPHOS disorders (MODs) affect one or several complexes of respiratory chain oxidative phosphorylation. An increased fat/low-carbohydrate ratio of the diet was recommended for treating MODs without, however, ev

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f74a219b95048abbca1a8b9da68f50e9
https://hal.univ-lille.fr/hal-02177005

Aminoacylation properties of pathology-related human mitochondrial tRNALys variants

Autor: Magali Frugier, Mark Helm, Catherine Florentz, Marie Sissler, Richard Giegé

Publikováno v: RNA
RNA, Cold Spring Harbor Laboratory Press, 2004, 10 (5), pp.841-853. ⟨10.1261/rna.5267604⟩

In vitro transcription has proven to be a successful tool for preparation of functional RNAs, especially in the tRNA field, in which, despite the absence of post-transcriptional modifications, transcripts are correctly folded and functionally active.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::056d7f6e0b0affa5381470f9b5bb5bc8
https://doi.org/10.1261/rna.5267604