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Alexandre Janer

Showing results (11-20 of 18) with videos related to

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Life Science Alliance|November 6, 2023
ESYT1 tethers the ER to mitochondria and is required for mitochondrial lipid and calcium homeostasisAlexandre Janer, Jordan L Morris, Michiel Krols, et al.
Nature Cell Biology|October 13, 2025
MAPL regulates gasdermin-mediated release of mtDNA from lysosomes to drive pyroptotic cell deathMai Nguyen, Jack J Collier, Olesia Ignatenko, et al.
Human Mutation|June 29, 2016
Inborn Error of Cobalamin Metabolism Associated with the Intracellular Accumulation of Transcobalamin-Bound Cobalamin and Mutations in ZNF143, Which Codes for a Transcriptional ActivatorMihaela Pupavac, David Watkins, Francis Petrella, et al.
Human Molecular Genetics|February 6, 2015
The 3' addition of CCA to mitochondrial tRNASer(AGY) is specifically impaired in patients with mutations in the tRNA nucleotidyl transferase TRNT1Florin Sasarman, Isabelle Thiffault, Woranontee Weraarpachai, et al.
EMBO Molecular Medicine|July 9, 2016
SLC25A46 is required for mitochondrial lipid homeostasis and cristae maintenance and is responsible for Leigh syndromeAlexandre Janer, Julien Prudent, Vincent Paupe, et al.
European Journal of Human Genetics : EJHG|January 22, 2015
RMND1 deficiency associated with neonatal lactic acidosis, infantile onset renal failure, deafness, and multiorgan involvementAlexandre Janer, Clara Dm van Karnebeek, Florin Sasarman, et al.
Brain : a Journal of Neurology|March 23, 2013
Interferon β induces clearance of mutant ataxin 7 and improves locomotion in SCA7 knock-in miceAlice Chort, Sandro Alves, Martina Marinello, et al.
Brain : a Journal of Neurology|November 17, 2021
NPTX1 mutations trigger endoplasmic reticulum stress and cause autosomal dominant cerebellar ataxiaMarie Coutelier, Maxime Jacoupy, Alexandre Janer, et al.
Pageof 2

Showing results (11-20 of 18) with videos related to

Sort By:
Pageof 2
You have reached the last page of results.This site can display upto 18 results.
Life Science Alliance|November 6, 2023
ESYT1 tethers the ER to mitochondria and is required for mitochondrial lipid and calcium homeostasisAlexandre Janer, Jordan L Morris, Michiel Krols, et al.
Nature Cell Biology|October 13, 2025
MAPL regulates gasdermin-mediated release of mtDNA from lysosomes to drive pyroptotic cell deathMai Nguyen, Jack J Collier, Olesia Ignatenko, et al.
Human Mutation|June 29, 2016
Inborn Error of Cobalamin Metabolism Associated with the Intracellular Accumulation of Transcobalamin-Bound Cobalamin and Mutations in ZNF143, Which Codes for a Transcriptional ActivatorMihaela Pupavac, David Watkins, Francis Petrella, et al.
Human Molecular Genetics|February 6, 2015
The 3' addition of CCA to mitochondrial tRNASer(AGY) is specifically impaired in patients with mutations in the tRNA nucleotidyl transferase TRNT1Florin Sasarman, Isabelle Thiffault, Woranontee Weraarpachai, et al.
EMBO Molecular Medicine|July 9, 2016
SLC25A46 is required for mitochondrial lipid homeostasis and cristae maintenance and is responsible for Leigh syndromeAlexandre Janer, Julien Prudent, Vincent Paupe, et al.
European Journal of Human Genetics : EJHG|January 22, 2015
RMND1 deficiency associated with neonatal lactic acidosis, infantile onset renal failure, deafness, and multiorgan involvementAlexandre Janer, Clara Dm van Karnebeek, Florin Sasarman, et al.
Brain : a Journal of Neurology|March 23, 2013
Interferon β induces clearance of mutant ataxin 7 and improves locomotion in SCA7 knock-in miceAlice Chort, Sandro Alves, Martina Marinello, et al.
Brain : a Journal of Neurology|November 17, 2021
NPTX1 mutations trigger endoplasmic reticulum stress and cause autosomal dominant cerebellar ataxiaMarie Coutelier, Maxime Jacoupy, Alexandre Janer, et al.
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