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遠藤ゆかり（エンドウユカリ）

研究テーマ	遺伝性筋疾患、骨格筋興奮収縮連関
研究業績（論文）	Kurebayashi N, Kodama M, Inoue H, Konishi M, Sugihara M, Murayama T, Endo Y, Sakurai T, et al. A novel selective stabilizer of the ryanodine receptor 2 prevents stress-induced ventricular arrhythmias without impairing cardiac function. Br J Pharmacol. 2026. Endo Y, Groom L, Wang SM, et al. Two zebrafish cacna1s loss-of-function variants provide models of mild and severe CACNA1S-related myopathy. Hum Mol Genet, 33, 254-269 (2024). Endo Y, Groom L, Celik A, et al. Variants in ASPH cause exertional heat illness and are associated with malignant hyperthermia susceptibility. Nat Commun 13, 3403 (2022). Volpatti JR, Endo Y, Knox J, et al. Identification of drug modifiers for RYR1-related myopathy using a multi-species discovery pipeline. Elife 9(2020). Liang, W.C., Uruha, A., Suzuki, S., Murakami, N., Takeshita, E., Chen, W.Z., Jong, Y.J., Endo, Y., Komaki, H., Fujii, T., et al. Pediatric necrotizing myopathy associated with anti-3-hydroxy-3-methylglutaryl-coenzyme A reductase antibodies. Rheumatology (Oxford) 56, 287-293 (2017). Ishiyama, A., Sakai, C., Matsushima, Y., Noguchi, S., Mitsuhashi, S., Endo, Y., Hayashi, Y.K., Saito, Y., Nakagawa, E., Komaki, H., et al. IBA57 mutations abrogate iron-sulfur cluster assembly leading to cavitating leukoencephalopathy. Neurol Genet 3, e184 (2017). Endo Y, Noguchi S, Hara Y, et al. Dominant mutations in ORAI1 cause tubular aggregate myopathy with hypocalcemia via constitutive activation of store-operated Ca²⁺ channels. Hum Mol Genet 24, 637-48 (2015). Endo Y, Furuta A, Nishino I. Danon disease: a phenotypic expression of LAMP-2 deficiency. Acta Neuropathol 129, 391-8 (2015). Endo Y, Dong M, Noguchi S, et al. Milder forms of muscular dystrophy associated with POMGNT2 mutations. Neurol Genet 1, e33 (2015). Dong M, Noguchi S, Endo Y, et al. DAG1 mutations associated with asymptomatic hyperCKemia and hypoglycosylation of α-dystroglycan. Neurology 84, 273-9 (2015). Endo Y, Saito Y, Otsuki T, et al. Persistent verbal and behavioral deficits after resection of the left supplementary motor area in epilepsy surgery. Brain Dev 36, 74-9 (2014). Nagai S, Saito Y, Endo Y, et al. Hypoalbuminemia in early onset dentatorubral-pallidoluysian atrophy due to leakage of albumin in multiple organs. J Neurol 260, 1263-71 (2013).

研究テーマ

遺伝性筋疾患、骨格筋興奮収縮連関

研究業績（論文）

Kurebayashi N, Kodama M, Inoue H, Konishi M, Sugihara M, Murayama T, Endo Y, Sakurai T, et al. A novel selective stabilizer of the ryanodine receptor 2 prevents stress-induced ventricular arrhythmias without impairing cardiac function. Br J Pharmacol. 2026.

Endo Y, Groom L, Wang SM, et al. Two zebrafish cacna1s loss-of-function variants provide models of mild and severe CACNA1S-related myopathy. Hum Mol Genet, 33, 254-269 (2024).

Endo Y, Groom L, Celik A, et al. Variants in ASPH cause exertional heat illness and are associated with malignant hyperthermia susceptibility. Nat Commun 13, 3403 (2022).

Volpatti JR, Endo Y, Knox J, et al. Identification of drug modifiers for RYR1-related myopathy using a multi-species discovery pipeline. Elife 9(2020).

Liang, W.C., Uruha, A., Suzuki, S., Murakami, N., Takeshita, E., Chen, W.Z., Jong, Y.J., Endo, Y., Komaki, H., Fujii, T., et al. Pediatric necrotizing myopathy associated with anti-3-hydroxy-3-methylglutaryl-coenzyme A reductase antibodies. Rheumatology (Oxford) 56, 287-293 (2017).

Ishiyama, A., Sakai, C., Matsushima, Y., Noguchi, S., Mitsuhashi, S., Endo, Y., Hayashi, Y.K., Saito, Y., Nakagawa, E., Komaki, H., et al. IBA57 mutations abrogate iron-sulfur cluster assembly leading to cavitating leukoencephalopathy. Neurol Genet 3, e184 (2017).

Endo Y, Noguchi S, Hara Y, et al. Dominant mutations in ORAI1 cause tubular aggregate myopathy with hypocalcemia via constitutive activation of store-operated Ca²⁺ channels. Hum Mol Genet 24, 637-48 (2015).

Endo Y, Furuta A, Nishino I. Danon disease: a phenotypic expression of LAMP-2 deficiency. Acta Neuropathol 129, 391-8 (2015).

Endo Y, Dong M, Noguchi S, et al. Milder forms of muscular dystrophy associated with POMGNT2 mutations. Neurol Genet 1, e33 (2015).

Dong M, Noguchi S, Endo Y, et al. DAG1 mutations associated with asymptomatic hyperCKemia and hypoglycosylation of α-dystroglycan. Neurology 84, 273-9 (2015).

Endo Y, Saito Y, Otsuki T, et al. Persistent verbal and behavioral deficits after resection of the left supplementary motor area in epilepsy surgery. Brain Dev 36, 74-9 (2014).

Nagai S, Saito Y, Endo Y, et al. Hypoalbuminemia in early onset dentatorubral-pallidoluysian atrophy due to leakage of albumin in multiple organs. J Neurol 260, 1263-71 (2013).

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研究業績詳細

遠藤 ゆかり（エンドウ ユカリ）

遠藤ゆかり（エンドウユカリ）