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Jean-Louis Mandel

Researcher at University of Strasbourg

Publications -  372
Citations -  39716

Jean-Louis Mandel is an academic researcher from University of Strasbourg. The author has contributed to research in topics: Gene & Fragile X syndrome. The author has an hindex of 101, co-authored 362 publications receiving 37522 citations. Previous affiliations of Jean-Louis Mandel include French Institute of Health and Medical Research & Collège de France.

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α-Amanitin: A specific inhibitor of one of two DNA-dependent RNA polymerase activities from calf thymus

TL;DR: α-amanitin selectively inhibits RNA synthesis catalyzed by calf thymus RNA polymerase activity B by interacting with the enzyme and inhibiting chain elongation as discussed by the authors, which can be used to identify the source of RNA synthesis.
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Adenovirus as an expression vector in muscle cells in vivo

TL;DR: A recombinant adenovirus is constructed containing the beta-galactosidase reporter gene under the control of muscle-specific regulatory sequences and it is reported that its in vivo expression up to 75 days after infection compares very favorably with other strategies proposed for gene or myoblast transfer in muscle in vivo.
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Proteases acting on mutant huntingtin generate cleaved products that differentially build up cytoplasmic and nuclear inclusions.

TL;DR: It is reported that two distinct mhtt fragments, termed cp-A and cp-B, differentially build up nuclear and cytoplasmic inclusions in HD brain and in a cellular model for HD.
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Mutations in the kinase Rsk-2 associated with Coffin-Lowry syndrome.

TL;DR: Findings provide direct evidence that abnormalities in the MAPK/RSK signalling pathway cause Coffin-Lowry syndrome.
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Fragile X syndrome

TL;DR: Fragile X syndrome (FXS) is the leading inherited form of intellectual disability and autism spectrum disorder, and patients can present with severe behavioural alterations, including hyperactivity, impulsivity and anxiety, in addition to poor language development and seizures as mentioned in this paper.