User profiles for "author:Céline Chery"
Céline CHERYUniversité de Lorraine CHRU de Nancy Verified email at inserm.fr Cited by 1311 |
Molecular genetics of tetrahydrobiopterin‐responsive phenylalanine hydroxylase deficiency
MR Zurflüh, J Zschocke, M Lindner, F Feillet… - Human …, 2008 - Wiley Online Library
Mutations in the phenylalanine hydroxylase (PAH) gene result in phenylketonuria (PKU).
Tetrahydrobiopterin (BH4)‐responsive hyperphenylalaninemia has been recently described …
Tetrahydrobiopterin (BH4)‐responsive hyperphenylalaninemia has been recently described …
[HTML][HTML] A PRDX1 mutant allele causes a MMACHC secondary epimutation in cblC patients
To date, epimutations reported in man have been somatic and erased in germlines. Here,
we identify a cause of the autosomal recessive cblC class of inborn errors of vitamin B12 …
we identify a cause of the autosomal recessive cblC class of inborn errors of vitamin B12 …
Epimutation in inherited metabolic disorders: the influence of aberrant transcription in adjacent genes
Epigenetic diseases can be produced by a stable alteration, called an epimutation, in DNA
methylation, in which epigenome alterations are directly involved in the underlying …
methylation, in which epigenome alterations are directly involved in the underlying …
[HTML][HTML] Molecular characterization of Richter syndrome identifies de novo diffuse large B-cell lymphomas with poor prognosis
J Broséus, S Hergalant, J Vogt, E Tausch… - Nature …, 2023 - nature.com
Richter syndrome (RS) is the transformation of chronic lymphocytic leukemia (CLL) into
aggressive lymphoma, most commonly diffuse large B-cell lymphoma (DLBCL). We …
aggressive lymphoma, most commonly diffuse large B-cell lymphoma (DLBCL). We …
[HTML][HTML] Stemness of Normal and Cancer Cells: The Influence of Methionine Needs and SIRT1/PGC-1α/PPAR-α Players
Stem cells are a population of undifferentiated cells with self-renewal and differentiation
capacities. Normal and cancer stem cells share similar characteristics in relation to their …
capacities. Normal and cancer stem cells share similar characteristics in relation to their …
A splicing variant leads to complete loss of function of betaine–homocysteine methyltransferase (BHMT) gene in hepatocellular carcinoma
H Pellanda, F Namour, A Bressenot, JM Alberto… - The international journal …, 2012 - Elsevier
The remethylation of homocyteine into methionine is catalyzed either by methionine
synthase (MTR) or by betaine–homocysteine methyltransferase (BHMT), in the liver …
synthase (MTR) or by betaine–homocysteine methyltransferase (BHMT), in the liver …
[HTML][HTML] Folate can promote the methionine-dependent reprogramming of glioblastoma cells towards pluripotency
R Zgheib, SF Battaglia-Hsu, S Hergalant… - Cell Death & …, 2019 - nature.com
Methionine dependency of tumor growth, although not well-understood, is detectable by
11C-methionine positron emission tomography and may contribute to the aggressivity of …
11C-methionine positron emission tomography and may contribute to the aggressivity of …
[HTML][HTML] Epimutations in both the TESK2 and MMACHC promoters in the Epi-cblC inherited disorder of intracellular metabolism of vitamin B12
Background epi-cblC is a recently discovered inherited disorder of intracellular vitamin B12
metabolism associating hematological, neurological, and cardiometabolic outcomes. It is …
metabolism associating hematological, neurological, and cardiometabolic outcomes. It is …
Diagnostic yield of clinical exome sequencing as a first-tier genetic test for the diagnosis of genetic disorders in pediatric patients: results from a referral center study
The emergence of next-generation sequencing enabled a cost-effective and straightforward
diagnostic approach to genetic disorders using clinical exome sequencing (CES) panels …
diagnostic approach to genetic disorders using clinical exome sequencing (CES) panels …
Interaction between methionine synthase isoforms and MMACHC: characterization in cblG-variant, cblG and cblC inherited causes of megaloblastic anaemia
MB Fofou-Caillierez, NT Mrabet, C Chéry… - Human molecular …, 2013 - academic.oup.com
The cblG and cblC disorders of cobalamin (Cbl) metabolism are two inherited causes of
megaloblastic anaemia. In cblG, mutations in methionine synthase (MTR) decrease …
megaloblastic anaemia. In cblG, mutations in methionine synthase (MTR) decrease …