A novel heterozygous mutation in the C-terminal region of HSPB8 leads to limb-girdle rimmed vacuolar myopathy
暂无分享,去创建一个
[1] V. Kimonis,et al. New family with HSPB8-associated autosomal dominant rimmed vacuolar myopathy , 2019, Neurology: Genetics.
[2] Y. Hayashi,et al. Altered TDP‐43‐dependent splicing in HSPB8‐related distal hereditary motor neuropathy and myofibrillar myopathy , 2018, European journal of neurology.
[3] I. Katona,et al. A knock-in/knock-out mouse model of HSPB8-associated distal hereditary motor neuropathy and myopathy reveals toxic gain-of-function of mutant Hspb8 , 2017, Acta Neuropathologica.
[4] A. Boland,et al. HSPB8 haploinsufficiency causes dominant adult-onset axial and distal myopathy , 2017, Acta Neuropathologica.
[5] F. Shewmaker,et al. Stress granules at the intersection of autophagy and ALS , 2016, Brain Research.
[6] D. MacArthur,et al. Mutations in HSPB8 causing a new phenotype of distal myopathy and motor neuropathy , 2016, Neurology.
[7] R. Parker,et al. Eukaryotic Stress Granules Are Cleared by Autophagy and Cdc48/VCP Function , 2013, Cell.
[8] M. Hauser,et al. Mutations affecting the cytoplasmic functions of the co-chaperone DNAJB6 cause limb-girdle muscular dystrophy , 2012, Nature Genetics.
[9] M. Hoch,et al. Chaperone-Assisted Selective Autophagy Is Essential for Muscle Maintenance , 2010, Current Biology.
[10] F. Muntoni,et al. Mutation in BAG3 causes severe dominant childhood muscular dystrophy , 2008, Annals of neurology.
[11] J. Landry,et al. HspB8, a small heat shock protein mutated in human neuromuscular disorders, has in vivo chaperone activity in cultured cells. , 2005, Human molecular genetics.
[12] K. Xia,et al. Small heat-shock protein 22 mutated in autosomal dominant Charcot-Marie-Tooth disease type 2L , 2005, Human Genetics.
[13] C. Broeckhoven,et al. Hot-spot residue in small heat-shock protein 22 causes distal motor neuropathy , 2004, Nature Genetics.