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For: Muhammad E, Reish O, Ohno Y, Scheetz T, Deluca A, Searby C, Regev M, Benyamini L, Fellig Y, Kihara A, Sheffield VC, Parvari R. Congenital myopathy is caused by mutation of HACD1. Hum Mol Genet 2013;22:5229-36. [PMID: 23933735 DOI: 10.1093/hmg/ddt380] [Cited by in Crossref: 35] [Cited by in F6Publishing: 31] [Article Influence: 3.9] [Reference Citation Analysis]
Number Citing Articles
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6 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. Progressive Structural Defects in Canine Centronuclear Myopathy Indicate a Role for HACD1 in Maintaining Skeletal Muscle Membrane Systems. Am J Pathol 2017;187:441-56. [PMID: 27939133 DOI: 10.1016/j.ajpath.2016.10.002] [Cited by in Crossref: 12] [Cited by in F6Publishing: 6] [Article Influence: 2.0] [Reference Citation Analysis]
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11 Muhammad E, Levitas A, Singh SR, Braiman A, Ofir R, Etzion S, Sheffield VC, Etzion Y, Carrier L, Parvari R. PLEKHM2 mutation leads to abnormal localization of lysosomes, impaired autophagy flux and associates with recessive dilated cardiomyopathy and left ventricular noncompaction. Hum Mol Genet 2015;24:7227-40. [PMID: 26464484 DOI: 10.1093/hmg/ddv423] [Cited by in Crossref: 30] [Cited by in F6Publishing: 31] [Article Influence: 4.3] [Reference Citation Analysis]
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13 Ganassi M, Muntoni F, Zammit PS. Defining and Identifying Satellite Cell-opathies within Muscular Dystrophies and Myopathies. Exp Cell Res 2021;:112906. [PMID: 34740639 DOI: 10.1016/j.yexcr.2021.112906] [Cited by in Crossref: 6] [Cited by in F6Publishing: 4] [Article Influence: 6.0] [Reference Citation Analysis]
14 Ghasemizadeh A, Christin E, Guiraud A, Couturier N, Abitbol M, Risson V, Girard E, Jagla C, Soler C, Laddada L, Sanchez C, Jaque-Fernandez FI, Jacquemond V, Thomas JL, Lanfranchi M, Courchet J, Gondin J, Schaeffer L, Gache V. MACF1 controls skeletal muscle function through the microtubule-dependent localization of extra-synaptic myonuclei and mitochondria biogenesis. Elife 2021;10:e70490. [PMID: 34448452 DOI: 10.7554/eLife.70490] [Reference Citation Analysis]
15 Singh N, Heneberg P, Singh N, Singh SK, Rathaur S. Identification of a novel stress regulated FERM domain containing cytosolic protein having PTP activity in Setaria cervi, a bovine filarial parasite. Biochem Biophys Res Commun 2015;458:194-200. [PMID: 25645020 DOI: 10.1016/j.bbrc.2015.01.100] [Cited by in Crossref: 4] [Article Influence: 0.6] [Reference Citation Analysis]
16 Sawai M, Uchida Y, Ohno Y, Miyamoto M, Nishioka C, Itohara S, Sassa T, Kihara A. The 3-hydroxyacyl-CoA dehydratases HACD1 and HACD2 exhibit functional redundancy and are active in a wide range of fatty acid elongation pathways. J Biol Chem 2017;292:15538-51. [PMID: 28784662 DOI: 10.1074/jbc.M117.803171] [Cited by in Crossref: 12] [Cited by in F6Publishing: 5] [Article Influence: 2.4] [Reference Citation Analysis]
17 Lehka L, Rędowicz MJ. Mechanisms regulating myoblast fusion: A multilevel interplay. Semin Cell Dev Biol 2020;104:81-92. [PMID: 32063453 DOI: 10.1016/j.semcdb.2020.02.004] [Cited by in Crossref: 9] [Cited by in F6Publishing: 9] [Article Influence: 4.5] [Reference Citation Analysis]
18 Gorokhova S, Biancalana V, Lévy N, Laporte J, Bartoli M, Krahn M. Clinical massively parallel sequencing for the diagnosis of myopathies. Rev Neurol (Paris) 2015;171:558-71. [PMID: 26022190 DOI: 10.1016/j.neurol.2015.02.019] [Cited by in Crossref: 8] [Cited by in F6Publishing: 5] [Article Influence: 1.1] [Reference Citation Analysis]
19 Garcia-cazorla À, Mochel F, Lamari F, Saudubray J. The clinical spectrum of inherited diseases involved in the synthesis and remodeling of complex lipids. A tentative overview. J Inherit Metab Dis 2015;38:19-40. [DOI: 10.1007/s10545-014-9776-6] [Cited by in Crossref: 35] [Cited by in F6Publishing: 30] [Article Influence: 4.4] [Reference Citation Analysis]
20 Abe K, Ohno Y, Sassa T, Taguchi R, Çalışkan M, Ober C, Kihara A. Mutation for nonsyndromic mental retardation in the trans-2-enoyl-CoA reductase TER gene involved in fatty acid elongation impairs the enzyme activity and stability, leading to change in sphingolipid profile. J Biol Chem 2013;288:36741-9. [PMID: 24220030 DOI: 10.1074/jbc.M113.493221] [Cited by in Crossref: 17] [Cited by in F6Publishing: 10] [Article Influence: 1.9] [Reference Citation Analysis]
21 Ianiri G, Abhyankar R, Kihara A, Idnurm A. Phs1 and the synthesis of very long chain Fatty acids are required for ballistospore formation. PLoS One 2014;9:e105147. [PMID: 25148260 DOI: 10.1371/journal.pone.0105147] [Cited by in Crossref: 6] [Cited by in F6Publishing: 6] [Article Influence: 0.8] [Reference Citation Analysis]
22 Phadke R. Myopathology of Congenital Myopathies: Bridging the Old and the New. Seminars in Pediatric Neurology 2019;29:55-70. [DOI: 10.1016/j.spen.2019.01.007] [Cited by in Crossref: 7] [Cited by in F6Publishing: 5] [Article Influence: 2.3] [Reference Citation Analysis]
23 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. HACD1, a regulator of membrane composition and fluidity, promotes myoblast fusion and skeletal muscle growth. J Mol Cell Biol 2015;7:429-40. [PMID: 26160855 DOI: 10.1093/jmcb/mjv049] [Cited by in Crossref: 27] [Cited by in F6Publishing: 22] [Article Influence: 3.9] [Reference Citation Analysis]
24 Lamari F, Mochel F, Saudubray J. An overview of inborn errors of complex lipid biosynthesis and remodelling. J Inherit Metab Dis 2015;38:3-18. [DOI: 10.1007/s10545-014-9764-x] [Cited by in Crossref: 41] [Cited by in F6Publishing: 38] [Article Influence: 5.1] [Reference Citation Analysis]
25 Sassa T, Kihara A. Metabolism of very long-chain Fatty acids: genes and pathophysiology. Biomol Ther (Seoul). 2014;22:83-92. [PMID: 24753812 DOI: 10.4062/biomolther.2014.017] [Cited by in Crossref: 124] [Cited by in F6Publishing: 109] [Article Influence: 15.5] [Reference Citation Analysis]
26 Davignon L, Chauveau C, Julien C, Dill C, Duband-Goulet I, Cabet E, Buendia B, Lilienbaum A, Rendu J, Minot MC, Guichet A, Allamand V, Vadrot N, Fauré J, Odent S, Lazaro L, Leroy JP, Marcorelles P, Dubourg O, Ferreiro A. The transcription coactivator ASC-1 is a regulator of skeletal myogenesis, and its deficiency causes a novel form of congenital muscle disease. Hum Mol Genet 2016;25:1559-73. [PMID: 27008887 DOI: 10.1093/hmg/ddw033] [Cited by in Crossref: 16] [Cited by in F6Publishing: 14] [Article Influence: 2.7] [Reference Citation Analysis]
27 Kihara A. Synthesis and degradation pathways, functions, and pathology of ceramides and epidermal acylceramides. Prog Lipid Res 2016;63:50-69. [PMID: 27107674 DOI: 10.1016/j.plipres.2016.04.001] [Cited by in Crossref: 92] [Cited by in F6Publishing: 90] [Article Influence: 15.3] [Reference Citation Analysis]
28 Jiang TT, Wei LL, Shi LY, Chen ZL, Wang C, Liu CM, Li ZJ, Li JC. Microarray expression profile analysis of mRNAs and long non-coding RNAs in pulmonary tuberculosis with different traditional Chinese medicine syndromes. BMC Complement Altern Med 2016;16:472. [PMID: 27855662 DOI: 10.1186/s12906-016-1436-y] [Cited by in Crossref: 12] [Cited by in F6Publishing: 12] [Article Influence: 2.0] [Reference Citation Analysis]
29 Ravenscroft G, Davis MR, Lamont P, Forrest A, Laing NG. New era in genetics of early-onset muscle disease: Breakthroughs and challenges. Semin Cell Dev Biol 2017;64:160-70. [PMID: 27519468 DOI: 10.1016/j.semcdb.2016.08.002] [Cited by in Crossref: 13] [Cited by in F6Publishing: 11] [Article Influence: 2.2] [Reference Citation Analysis]
30 Bargui R, Solgadi A, Prost B, Chester M, Ferreiro A, Piquereau J, Moulin M. Phospholipids: Identification and Implication in Muscle Pathophysiology. Int J Mol Sci 2021;22:8176. [PMID: 34360941 DOI: 10.3390/ijms22158176] [Reference Citation Analysis]
31 Parker HG, Gilbert SF. From caveman companion to medical innovator: genomic insights into the origin and evolution of domestic dogs. Adv Genomics Genet 2015;5:239-55. [PMID: 28490917 DOI: 10.2147/AGG.S57678] [Cited by in Crossref: 3] [Cited by in F6Publishing: 1] [Article Influence: 0.4] [Reference Citation Analysis]
32 Rodríguez Cruz PM, Sewry C, Beeson D, Jayawant S, Squier W, Mcwilliam R, Palace J. Congenital myopathies with secondary neuromuscular transmission defects; A case report and review of the literature. Neuromuscular Disorders 2014;24:1103-10. [DOI: 10.1016/j.nmd.2014.07.005] [Cited by in Crossref: 29] [Cited by in F6Publishing: 23] [Article Influence: 3.6] [Reference Citation Analysis]
33 Abbasi-Moheb L, Westenberger A, Alotaibi M, Alghamdi MA, Hertecant JL, Ariamand A, Beetz C, Rolfs A, Bertoli-Avella AM, Bauer P. Biallelic loss-of-function HACD1 variants are a bona fide cause of congenital myopathy. Clin Genet 2021;99:513-8. [PMID: 33354762 DOI: 10.1111/cge.13905] [Cited by in Crossref: 2] [Cited by in F6Publishing: 1] [Article Influence: 2.0] [Reference Citation Analysis]