A novel heterozygous mutation in the C-terminal region of HSPB8 leads to limb-girdle rimmed vacuolar myopathy

[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.