Publications 2023


Mitochondrial dysfunction and calcium dysregulation in COQ8A-ataxia Purkinje neurons are rescued by CoQ10 treatment

Manoloras I., Del Bondio A., Griso O., Reutenauer L., Eisenmann A., Habermann BH., Puccio H.

Brain 2023 Sep;

Homozygous COQ7 mutation: a new cause of potentially treatable distal hereditary motor neuropathy

Jacquier A., Theuriet J., Fontaine F., Mosbach V., Lacoste N., Ribault S., Risson V., Carras J., Coudert L., Simonet T., Latour P., Stojkovic T., Piard J., Cosson A., Lesca G., Bouhour F., Allouche S., Puccio H., Pegat A., Schaeffer L.

Brain 2023 Aug;

The new missense G376V-TDP-43 variant induces late-onset distal myopathy but not amyotrophic lateral sclerosis

Zibold J., Lessard L., Picard F., Gruijs da Silva L., Zadorozhna Y., Streichenberger N., Belotti E., Osseni A., Emerit A., Errazuriz-Cerda E., Michel-Calemard L., Menassa R., Coudert L., Wiessner M., Stucka R., Klopstock T., Simonetti F., Hutten S., Nonaka T., Hasegawa M., Strom T., Bernard E., Ollagnon E., Urtizberea A., Dormann D., Petiot P., Schaeffer L., Senderek J. and Leblanc P.

Brain 2023 Dec;

Spatial Transcriptomics Reveals Signatures of Histopathological Changes in Muscular Sarcoidosis

Lequain H., Dégletagne C., Streichenberger N., Valantin J., Simonet T., Schaeffer L., Sève P., Leblanc P.

Cells 2023 Nov; 12, 2747

Nucleolar reorganization after cellular stress is orchestrated by SMN shuttling between nuclear compartments.

Musawi S, Donnio LM, Zhao Z, Magnani C, Rassinoux P, Binda O, Huang J, Jacquier A, Courdert L, Lomonte P, Martinat C, Schaeffer L, Mottet D, Côté J, Mari PO, Giglia-Mari G.

Nat Commun 2023 Nov (14). doi: 10.1038/s41467-023-42390-4

Influence of sexual dimorphism on satellite cell regulation and inflammatory response during skeletal muscle regeneration.

Jomard C, Gondin J

Physiol Rep. 2023 Oct;11(19):e15798. doi: 10.14814/phy2.15798.

Kinetics of skeletal muscle regeneration after mild and severe muscle damage induced by electrically-evoked lengthening contractions.

Bernard C, Jomard C, Chazaud B, Gondin J

FASEB J. 2023 Sep;37(9):e23107. doi: 10.1096/fj.202201708RR.

H syndrome mimicking Erdheim Chester disease: new entity and therapeutic perspectives

Lequain H., Gerfaud-Valentin M., Emile J-F., Gangloff Y-G., Boursier G., Deligny C., Le Guenno G., Tantot J., Valantin J., Savey L., Bachmeyer C., Jamilloux Y., Schaeffer L., Leblanc P., Sève P.

Haematologica 2023 Aug; Vol.108. No.8

Acute effects of conventional versus wide-pulse neuromuscular electrical stimulation on quadriceps evoked torque and neuromuscular function.

Espeit L, Luneau E, Brownstein CG, Gondin J, Millet GY, Rozand V, Maffiuletti NA, Lapole T

Scand J Med Sci Sports 2023 Aug;33(8):1307-1321. doi: 10.1111/sms.14375. Epub 2023 Apr 17.

Altered muscle niche contributes to myogenic deficit in the D2-mdx model of severe DMD.

Mázala DAG, Hindupur R, Moon YJ, Shaikh F, Gamu IH, Alladi D, Panci G, Weiss-Gayet M, Chazaud B, Partridge TA, Novak JS, Jaiswal JK

Cell Death Discov. 2023 Jul 4;9(1):224. doi: 10.1038/s41420-023-01503-0

Interplay between PML NBs and HIRA for H3.3 dynamics following type I interferon stimulus.

Kleijwegt C, Bressac F, Seurre C, Bouchereau W, Cohen C, Texier P, Simonet T, Schaeffer L, Lomonte P, Corpet A.

eLife 12:e80156. doi:10.7554/eLife.80156 May 25, 2023

Hydroxypropyl-β-Cyclodextrin Depletes Membrane Cholesterol and Inhibits SARS-CoV-2 Entry into HEK293T-ACEhi Cells

Alboni S.,Secco V., Papotti B., Vilella A., Pia Adorni M., Zimetti F., Schaeffer L., Tascedda F., Zoli M., Leblanc P., Villa E.

Pathogens 2023 Apr;12(5), 647.

Macrophagic AMPKα1 orchestrates regenerative inflammation induced by glucocorticoids

Caratti G, Desgeorges T, Juban G, Stifel U, Fessard A, Koenen M, Caratti B, Théret M, Skurk C, Chazaud B, Tuckermann JP, Mounier R.

EMBO Rep 2023 Feb 6;24(2):e55363. doi: 10.15252/embr.202255363

SMA-linked SMN mutants prevent phase separation properties and SMN interactions with FMRP family members

Binda O, Juillard F, Ducassou JN, Kleijwegt C, Paris G, Didillon A, Baklouti F, Corpet A, Couté Y, Côté J, Lomonte P

Life Sci Alliance 2023 6:e202201429. doi:10.26508/lsa.202201429

The TUDOR domain of SMN is an H3K79 me1 histone mark reader

Binda O, Kimenyi Ishimwe AB, Galloy M, Jacquet K, Corpet A, Fradet-Turcotte A, Côté J, Lomonte P.

Life Sci Alliance 2023 6:e202201752. doi:10.26508/lsa.202201752

Novel Intronic Mutation in VMA21 Causing Severe Phenotype of X-Linked Myopathy with Excessive Autophagy-Case Report.

A. Pegat, N. Streichenberger, N. Lacoste, M. Hermier, R. Menassa, L. Coudert, J. Theuriet, R. Froissart, S. Terrone, F. Bouhour, L. Michel-Calemard, L. Schaeffer and A. Jacquier

Genes 2022, 13, 2245.

Immune-Mediated Rippling Muscle Disease Associated With Thymoma and Anti-MURC/Cavin-4 Autoantibodies.

J. Svahn , L. Coudert , N. Streichenberger, A. Kraut , A. Gravier-Dumonceau-Mazelier, L. Rotard , L. Calemard-Michel, R. Menassa, E. Errazuriz-Cerda, L. Chalabreysse, A. Osseni, C. Vial, L. Jomir, F. Tronc, D. Le Duy, E. Bernard, V. Gache, Y. Couté, V. Jacquemond, L. Schaeffer, P. Leblanc

Neurology: Neuroimmunology & Neuroinflammation January 2023; 10 (1), DOI:

HDAC6, une désacétylase très spécifique porteuse d’espoir thérapeutique.

A. Osseni et L. Schaeffer

medecine/sciences Volume 38 / Numéro 13 (Decembre 2022) Hors série n° 1,