Publications

Agrawal PB, et al. SPEG interacts with myotubularin, and its deficiency causes centronuclear myopathy with dilated cardiomyopathy. Am J Hum Genet. 2014 Aug 7;95(2):218-26. PMID: 25087613.

Almannai M, et al. Homozygous SPEG Mutation Is Associated With Isolated Dilated Cardiomyopathy.Circ Genom Precis Med. 2021 Apr;14(2):e003310. PMID: 33794647.

Cohen C, et al. Incidental and secondary findings in trio exome sequencing.Genes Dis. 2023 Oct 11;11(4):101137. PMID: 38523675.

Fujimoto HM, et al. Novel SPEG variants in a neonate with severe dilated cardiomyopathy and relatively mild hypotonia.Hum Genome Var. 2023 Sep 6;10(1):24. PMID: 37673875.

Gurgel-Giannetti J, et al. A Novel SPEG mutation causing congenital myopathy with fiber disproportion and dilated cardiomyopathy with heart transplantation.Neuromuscul Disord. 2021 Nov;31(11):1199-1206. PMID: 34742623.

Huntoon V, et al. SPEG-deficient skeletal muscles exhibit abnormal triad and defective calcium handling.Hum Mol Genet. 2018 May 1;27(9):1608-1617. PMID: 29474540.

Khalaf T, et al. The utility of exome sequencing in diagnosing pediatric neurodevelopmental disorders in a highly consanguineous population. Clin Genet. 2024 Jul;106(1):82-89. PMID: 38438125.

Jaouadi H, et al. Dilated-Left Ventricular Non-Compaction Cardiomyopathy in a Pediatric Case with SPEG Compound Heterozygous Variants.Int J Mol Sci. 2022 May 6;23(9):5205. PMID: 35563595.

Li G, et al. Striated preferentially expressed gene deficiency leads to mitochondrial dysfunction in developing cardiomyocytes. Basic Res Cardiol. 2024 Feb;119(1):151-168. PMID: 38145999.

Li Q, et al. Dynamin-2 reduction rescues the skeletal myopathy of a SPEG-deficient mouse model.JCI Insight. 2022 Aug 8;7(15):e157336. PMID: 35763354.

Li Q, et al. Integrated multi-omics approach reveals the role of striated muscle preferentially expressed protein kinase in skeletal muscle including its relationship with myospryn complex.J Cachexia Sarcopenia Muscle. 2024 Jun;15(3):1003-1015. PMID: 38725372.

Li Q, et al. Striated Preferentially Expressed Protein Kinase (SPEG)-Deficient Skeletal Muscles Display Fewer Satellite Cells with Reduced Proliferation and Delayed Differentiation.Am J Pathol. 2020 Dec;190(12):2453-2463. PMID: 32919980.

Lornage X, et al. Novel SPEG Mutations in Congenital Myopathy without Centralized Nuclei.J Neuromuscul Dis. 2018;5(2):257-260. PMID: 29614691.

Luo S, et al. SPEG binds with desmin and its deficiency causes defects in triad and focal adhesion proteins.Hum Mol Genet. 2021 Feb 25;29(24):3882-3891. PMID: 33355670.

Luo S, et al. Striated Preferentially Expressed Protein Kinase (SPEG) in Muscle Development, Function, and Disease. Int J Mol Sci. 2021 May 27;22(11):5732. PMID: 34072258.

Qualls AE, et al. Novel SPEG mutations in congenital myopathies: Genotype-phenotype correlations.Muscle Nerve. 2019 Mar;59(3):357-362. PMID: 30412272.

Shu C, et al. Pressure Overload in Mice With Haploinsufficiency of Striated Preferentially Expressed Gene Leads to Decompensated Heart Failure. Front Physiol. 2018 Jul 10;9:863. PMID: 30042693.

Wang H, et al. Insights from genotype-phenotype correlations by novel SPEG mutations causing centronuclear myopathy. Neuromuscul Disord. 2017 Sep;27(9):836-842. PMID: 28624463.