Silva-Rojas R - Search Results

1

Silencing of the Ca²⁺ Channel ORAI1 Improves the Multi-Systemic Phenotype of Tubular Aggregate Myopathy (TAM) and Stormorken Syndrome (STRMK) in Mice.

Silva-Rojas R, Pérez-Guàrdia L, Lafabrie E, Moulaert D, Laporte J, Böhm J. Silva-Rojas R, et al. Int J Mol Sci. 2022 Jun 23;23(13):6968. doi: 10.3390/ijms23136968. Int J Mol Sci. 2022. PMID: 35805973 Free PMC article.

2

STIM1 over-activation generates a multi-systemic phenotype affecting the skeletal muscle, spleen, eye, skin, bones and immune system in mice.

Silva-Rojas R, Treves S, Jacobs H, Kessler P, Messaddeq N, Laporte J, Böhm J. Silva-Rojas R, et al. Hum Mol Genet. 2019 May 15;28(10):1579-1593. doi: 10.1093/hmg/ddy446. Hum Mol Genet. 2019. PMID: 30576443

3

Functional analyses of STIM1 mutations reveal a common pathomechanism for tubular aggregate myopathy and Stormorken syndrome.

Peche GA, Spiegelhalter C, Silva-Rojas R, Laporte J, Böhm J. Peche GA, et al. Among authors: silva rojas r. Neuropathology. 2020 Dec;40(6):559-569. doi: 10.1111/neup.12692. Epub 2020 Oct 19. Neuropathology. 2020. PMID: 33073872

4

Pathophysiological Effects of Overactive STIM1 on Murine Muscle Function and Structure.

Silva-Rojas R, Charles AL, Djeddi S, Geny B, Laporte J, Böhm J. Silva-Rojas R, et al. Cells. 2021 Jul 8;10(7):1730. doi: 10.3390/cells10071730. Cells. 2021. PMID: 34359900 Free PMC article.

5

STIM1/ORAI1 Loss-of-Function and Gain-of-Function Mutations Inversely Impact on SOCE and Calcium Homeostasis and Cause Multi-Systemic Mirror Diseases.

Silva-Rojas R, Laporte J, Böhm J. Silva-Rojas R, et al. Front Physiol. 2020 Nov 4;11:604941. doi: 10.3389/fphys.2020.604941. eCollection 2020. Front Physiol. 2020. PMID: 33250786 Free PMC article. Review.

6

Mice with muscle-specific deletion of Bin1 recapitulate centronuclear myopathy and acute downregulation of dynamin 2 improves their phenotypes.

Silva-Rojas R, Nattarayan V, Jaque-Fernandez F, Gomez-Oca R, Menuet A, Reiss D, Goret M, Messaddeq N, Lionello VM, Kretz C, Cowling BS, Jacquemond V, Laporte J. Silva-Rojas R, et al. Mol Ther. 2022 Feb 2;30(2):868-880. doi: 10.1016/j.ymthe.2021.08.006. Epub 2021 Aug 8. Mol Ther. 2022. PMID: 34371181 Free PMC article.

7

Physiological impact and disease reversion for the severe form of centronuclear myopathy linked to dynamin.

Massana Muñoz X, Kretz C, Silva-Rojas R, Ochala J, Menuet A, Romero NB, Cowling BS, Laporte J. Massana Muñoz X, et al. Among authors: silva rojas r. JCI Insight. 2020 Sep 17;5(18):e137899. doi: 10.1172/jci.insight.137899. JCI Insight. 2020. PMID: 32809972 Free PMC article.

8

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: silva rojas r. Neurogenetics. 2021 Mar;22(1):33-41. doi: 10.1007/s10048-020-00632-3. Epub 2021 Jan 6. Neurogenetics. 2021. PMID: 33405017

9

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. Ann Neurol. 2020 Aug;88(2):274-282. doi: 10.1002/ana.25771. Epub 2020 Jun 3. Ann Neurol. 2020. PMID: 32386344

10

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: silva rojas r. 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.

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