Proteomic characterisation of polyglucosan bodies in skeletal muscle in RBCK1 deficiency,Neuropathology and Applied Neurobiology

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Proteomic characterisation of polyglucosan bodies in skeletal muscle in RBCK1 deficiency
Neuropathology and Applied Neurobiology ( IF 4.0 ) Pub Date : 2021-08-17 , DOI: 10.1111/nan.12761
Christer Thomsen ₁ , Edoardo Malfatti ₂ , Ana Jovanovic ₃ , Mark Roberts ₄ , Ognian Kalev ₅ , Christopher Lindberg ₆ , Anders Oldfors ₁

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Several neurodegenerative and neuromuscular disorders are characterised by storage of polyglucosan, consisting of proteins and amylopectin-like polysaccharides, which are less branched than in normal glycogen. Such diseases include Lafora disease, branching enzyme deficiency, glycogenin-1 deficiency, polyglucosan body myopathy type 1 (PGBM1) due to RBCK1 deficiency and others. The protein composition of polyglucosan bodies is largely unknown.

中文翻译：

RBCK1缺乏症骨骼肌多聚葡聚糖体的蛋白质组学特征

几种神经退行性和神经肌肉疾病的特征在于聚葡聚糖的储存，聚葡聚糖由蛋白质和支链淀粉样多糖组成，其分支比正常糖原中的少。此类疾病包括 Lafora 病、分支酶缺乏症、糖原-1 缺乏症、由于 RBCK1 缺乏症导致的 1 型多聚葡聚糖体肌病 (PGBM1) 等。聚葡聚糖体的蛋白质组成在很大程度上是未知的。

更新日期：2021-08-17

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