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Wnt5a Promotes Lysosomal Cholesterol Egress and Protects Against Atherosclerosis.
Awan S, Lambert M, Imtiaz A, Alpy F, Tomasetto C, Oulad-Abdelghani M, Schaeffer C, Moritz C, Julien-David D, Najib S, Martinez LO, Matz RL, Collet X, Silva-Rojas R, Böhm J, Herz J, Terrand J, Boucher P. Awan S, et al. Among authors: bohm j. Circ Res. 2022 Jan 21;130(2):184-199. doi: 10.1161/CIRCRESAHA.121.318881. Epub 2021 Dec 10. Circ Res. 2022. PMID: 34886684 Free PMC article.
Selective loss of a LAP1 isoform causes a muscle-specific nuclear envelopathy.
Lornage X, Mallaret M, Silva-Rojas R, Biancalana V, Giovannini D, Dieterich K, Saker S, Deleuze JF, Wuyam B, Laporte J, Böhm J. Lornage X, et al. Among authors: bohm j. Neurogenetics. 2021 Mar;22(1):33-41. doi: 10.1007/s10048-020-00632-3. Epub 2021 Jan 6. Neurogenetics. 2021. PMID: 33405017
A New Glycogen Storage Disease Caused by a Dominant PYGM Mutation.
Echaniz-Laguna A, Lornage X, Laforêt P, Orngreen MC, Edelweiss E, Brochier G, Bui MT, Silva-Rojas R, Birck C, Lannes B, Romero NB, Vissing J, Laporte J, Böhm J. Echaniz-Laguna A, et al. Among authors: bohm j. Ann Neurol. 2020 Aug;88(2):274-282. doi: 10.1002/ana.25771. Epub 2020 Jun 3. Ann Neurol. 2020. PMID: 32386344
Constitutive activation of the calcium sensor STIM1 causes tubular-aggregate myopathy.
Böhm J, Chevessier F, Maues De Paula A, Koch C, Attarian S, Feger C, Hantaï D, Laforêt P, Ghorab K, Vallat JM, Fardeau M, Figarella-Branger D, Pouget J, Romero NB, Koch M, Ebel C, Levy N, Krahn M, Eymard B, Bartoli M, Laporte J. Böhm J, et al. Am J Hum Genet. 2013 Feb 7;92(2):271-8. doi: 10.1016/j.ajhg.2012.12.007. Epub 2013 Jan 17. Am J Hum Genet. 2013. PMID: 23332920 Free PMC article.
586 results