HSPB1 and HSPB8 in inherited neuropathies: study of an Italian cohort of dHMN and CMT2 patients.
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Neuropathy- and myopathy-associated mutations in human small heat shock proteins: Characteristics and evolutionary history of the mutation sitesChaperonopathies: Spotlight on Hereditary Motor NeuropathiesCharacterization of Mutants of Human Small Heat Shock Protein HspB1 Carrying Replacements in the N-Terminal Domain and Associated with Hereditary Motor Neuron DiseasesAxonal Neuropathies due to Mutations in Small Heat Shock Proteins: Clinical, Genetic, and Functional Insights into Novel MutationsProline isomerization in the C-terminal region of HSP27.Truncated HSPB1 causes axonal neuropathy and impairs tolerance to unfolded protein stress.Effect of N-terminal region of nuclear Drosophila melanogaster small heat shock protein DmHsp27 on function and quaternary structure.Animal models and therapeutic prospects for Charcot-Marie-Tooth disease.Chaperoning heat shock proteins: proteomic analysis and relevance for normal and dystrophin-deficient muscle.A novel p.T139M mutation in HSPB1 highlighting the phenotypic spectrum in a family.A knock-in/knock-out mouse model of HSPB8-associated distal hereditary motor neuropathy and myopathy reveals toxic gain-of-function of mutant Hspb8.Mutant HSPB1 causes loss of translational repression by binding to PCBP1, an RNA binding protein with a possible role in neurodegenerative diseaseCharcot-Marie-Tooth 2F: phenotypic presentation of the Arg136Leu HSP27 mutation in a multigenerational family.Molecular Chaperones in the Pathogenesis of Amyotrophic Lateral Sclerosis: The Role of HSPB1.Mutation analysis of MFN2, GJB1, MPZ and PMP22 in Italian patients with axonal Charcot-Marie-Tooth disease.Modulation of Protein Quality Control and Proteasome to Autophagy Switch in Immortalized Myoblasts from Duchenne Muscular Dystrophy Patients.Novel insights in the disease biology of mutant small heat shock proteins in neuromuscular diseases.Clinical and genetic features of Charcot-Marie-Tooth disease 2F and hereditary motor neuropathy 2B in Japan.Mitochondrial deficits and abnormal mitochondrial retrograde axonal transport play a role in the pathogenesis of mutant Hsp27-induced Charcot Marie Tooth Disease.
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HSPB1 and HSPB8 in inherited neuropathies: study of an Italian cohort of dHMN and CMT2 patients.
description
2011 nî lūn-bûn
@nan
2011年の論文
@ja
2011年学术文章
@wuu
2011年学术文章
@zh
2011年学术文章
@zh-cn
2011年学术文章
@zh-hans
2011年学术文章
@zh-my
2011年学术文章
@zh-sg
2011年學術文章
@yue
2011年學術文章
@zh-hant
name
HSPB1 and HSPB8 in inherited n ...... ort of dHMN and CMT2 patients.
@en
HSPB1 and HSPB8 in inherited n ...... ort of dHMN and CMT2 patients.
@nl
type
label
HSPB1 and HSPB8 in inherited n ...... ort of dHMN and CMT2 patients.
@en
HSPB1 and HSPB8 in inherited n ...... ort of dHMN and CMT2 patients.
@nl
prefLabel
HSPB1 and HSPB8 in inherited n ...... ort of dHMN and CMT2 patients.
@en
HSPB1 and HSPB8 in inherited n ...... ort of dHMN and CMT2 patients.
@nl
P2093
P2860
P1476
HSPB1 and HSPB8 in inherited n ...... ort of dHMN and CMT2 patients.
@en
P2093
Alessandro Geroldi
Angelo Schenone
Emilia Bellone
Marina Grandis
Paola Ciotti
Paola Fossa
Rossella Gulli
Simona Capponi
P2860
P304
P356
10.1111/J.1529-8027.2011.00361.X
P577
2011-12-01T00:00:00Z