Disease: Neuropathy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0442874
Disease: Neuropathy
Neuropathy 		0.100 GeneticVariation group BEFREE In this study, we modeled HSPB1 mutant-induced neuropathies in Drosophila using a human HSPB1<sup>S135F</sup> mutant that has a missense mutation in its α-crystallin domain. 31630804 2020
CUI: C0442874
Disease: Neuropathy
Neuropathy 		0.100 Biomarker group BEFREE This review extensively profiles the published literature on CMT2F and distal hereditary motor neuropathy II (dHMN II), a similar neuropathy with exclusively motor symptoms that is also due to mutations in Hsp27. 31212070 2019
CUI: C0442874
Disease: Neuropathy
Neuropathy 		0.100 Biomarker group BEFREE A detailed phenotype and natural history study of HSPB1 neuropathy is therefore required in order to inform the duration and outcome measures of any future trials. 27816334 2017
CUI: C0442874
Disease: Neuropathy
Neuropathy 		0.100 GeneticVariation group BEFREE This specific HSPB1 mutation results in a severe neuropathy phenotype affecting exclusively the motor neurons of the peripheral nervous system. 28077174 2017
CUI: C0442874
Disease: Neuropathy
Neuropathy 		0.100 GeneticVariation group BEFREE Together, these findings suggest that the mitochondrial abnormalities in mutant Hsp27-induced neuropathies may be a primary cause of pathology, leading to further deficits in the mitochondrial axonal transport and onset of disease. 28595321 2017
CUI: C0442874
Disease: Neuropathy
Neuropathy 		0.100 GeneticVariation group BEFREE Physico-chemical properties of the mutations G34R, P39L and E41K in the N-terminal domain of human heat shock protein B1 (HspB1), which have been associated with hereditary motor neuron neuropathy, were analyzed. 25965061 2015
CUI: C0442874
Disease: Neuropathy
Neuropathy 		0.100 GeneticVariation group BEFREE Targeted next-generation sequencing reveals further genetic heterogeneity in axonal Charcot-Marie-Tooth neuropathy and a mutation in HSPB1. 23963299 2014
CUI: C0442874
Disease: Neuropathy
Neuropathy 		0.100 GeneticVariation group BEFREE Some properties of G84R and L99M mutants of HspB1 associated with peripheral distal neuropathies were investigated. 23948568 2013
CUI: C0442874
Disease: Neuropathy
Neuropathy 		0.100 Biomarker group BEFREE Mutations in the small heat shock protein HSPB1 (HSP27) are a cause of axonal Charcot-Marie-Tooth neuropathy (CMT2F) and distal hereditary motor neuropathy. 23728742 2013
CUI: C0442874
Disease: Neuropathy
Neuropathy 		0.100 GeneticVariation group BEFREE However, we present a family with a novel mutation in the C-terminus of HSP27 (p.Gln175X) [corrected] with a motor predominant distal neuropathy but with definite sensory involvement compatible with CMT2. 22734906 2012
CUI: C0442874
Disease: Neuropathy
Neuropathy 		0.100 GeneticVariation group BEFREE The significant HSPB1 mutation frequency in both phenotypes indicates its relevance in the pathogenesis of these neuropathies. 22176143 2011
CUI: C0442874
Disease: Neuropathy
Neuropathy 		0.100 GeneticVariation group BEFREE Increased monomerization of mutant HSPB1 leads to protein hyperactivity in Charcot-Marie-Tooth neuropathy. 20178975 2010
CUI: C0442874
Disease: Neuropathy
Neuropathy 		0.100 GeneticVariation group BEFREE Mutations in HSPB1 and HSPB8, members of the small heat shock protein family, have recently been shown to cause some distal motor neuropathies. 15296780 2004
CUI: C0442874
Disease: Neuropathy
Neuropathy 		0.100 GeneticVariation group BEFREE We observed the additional HSPB1 mutations in four families with distal HMN and in one individual with CMT neuropathy. 15122254 2004