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A canine Arylsulfatase G (ARSG) mutation leading to a sulfatase deficiency is associated with neuronal ceroid lipofuscinosis.
Abitbol M, Thibaud JL, Olby NJ, Hitte C, Puech JP, Maurer M, Pilot-Storck F, Hédan B, Dréano S, Brahimi S, Delattre D, André C, Gray F, Delisle F, Caillaud C, Bernex F, Panthier JJ, Aubin-Houzelstein G, Blot S, Tiret L. Abitbol M, et al. Proc Natl Acad Sci U S A. 2010 Aug 17;107(33):14775-80. doi: 10.1073/pnas.0914206107. Epub 2010 Aug 2. Proc Natl Acad Sci U S A. 2010. PMID: 20679209 Free PMC article.
HACD1, a regulator of membrane composition and fluidity, promotes myoblast fusion and skeletal muscle growth.
Blondelle J, Ohno Y, Gache V, Guyot S, Storck S, Blanchard-Gutton N, Barthélémy I, Walmsley G, Rahier A, Gadin S, Maurer M, Guillaud L, Prola A, Ferry A, Aubin-Houzelstein G, Demarquoy J, Relaix F, Piercy RJ, Blot S, Kihara A, Tiret L, Pilot-Storck F. Blondelle J, et al. J Mol Cell Biol. 2015 Oct;7(5):429-40. doi: 10.1093/jmcb/mjv049. Epub 2015 Jul 9. J Mol Cell Biol. 2015. PMID: 26160855 Free PMC article.
Progressive Structural Defects in Canine Centronuclear Myopathy Indicate a Role for HACD1 in Maintaining Skeletal Muscle Membrane Systems.
Walmsley GL, Blot S, Venner K, Sewry C, Laporte J, Blondelle J, Barthélémy I, Maurer M, Blanchard-Gutton N, Pilot-Storck F, Tiret L, Piercy RJ. Walmsley GL, et al. Among authors: pilot storck f. Am J Pathol. 2017 Feb;187(2):441-456. doi: 10.1016/j.ajpath.2016.10.002. Epub 2016 Dec 8. Am J Pathol. 2017. PMID: 27939133 Free article.
Differential physiological roles for BIN1 isoforms in skeletal muscle development, function and regeneration.
Prokic I, Cowling BS, Kutchukian C, Kretz C, Tasfaout H, Gache V, Hergueux J, Wendling O, Ferry A, Toussaint A, Gavriilidis C, Nattarayan V, Koch C, Lainé J, Combe R, Tiret L, Jacquemond V, Pilot-Storck F, Laporte J. Prokic I, et al. Among authors: pilot storck f. Dis Model Mech. 2020 Nov 24;13(11):dmm044354. doi: 10.1242/dmm.044354. Dis Model Mech. 2020. PMID: 32994313 Free PMC article.
Cardiolipin content controls mitochondrial coupling and energetic efficiency in muscle.
Prola A, Blondelle J, Vandestienne A, Piquereau J, Denis RGP, Guyot S, Chauvin H, Mourier A, Maurer M, Henry C, Khadhraoui N, Gallerne C, Molinié T, Courtin G, Guillaud L, Gressette M, Solgadi A, Dumont F, Castel J, Ternacle J, Demarquoy J, Malgoyre A, Koulmann N, Derumeaux G, Giraud MF, Joubert F, Veksler V, Luquet S, Relaix F, Tiret L, Pilot-Storck F. Prola A, et al. Among authors: pilot storck f. Sci Adv. 2021 Jan 1;7(1):eabd6322. doi: 10.1126/sciadv.abd6322. Print 2021 Jan. Sci Adv. 2021. PMID: 33523852 Free PMC article.
[No title available]
[No authors listed] [No authors listed] PMID: 34005043
Hacd2 deficiency in mice leads to an early and lethal mitochondrial disease.
Khadhraoui N, Prola A, Vandestienne A, Blondelle J, Guillaud L, Courtin G, Bodak M, Prost B, Huet H, Wintrebert M, Péchoux C, Solgadi A, Relaix F, Tiret L, Pilot-Storck F. Khadhraoui N, et al. Among authors: pilot storck f. Mol Metab. 2023 Mar;69:101677. doi: 10.1016/j.molmet.2023.101677. Epub 2023 Jan 21. Mol Metab. 2023. PMID: 36693621 Free PMC article.
15 results