Peripheral neuropathies articles within Nature Communications

Featured

• Article
  13 January 2023 | Open Access

  Gut microbiome dysbiosis drives metabolic dysfunction in Familial dysautonomia

  Familial dysautonomia is a rare genetic disease caused in part by neurodegeneration. Here, the authors show that the gut-metabolism axis is altered in both patients and transgenic mice and that disease pathology is ameliorated by controlling microbiome divergence.

  • Alexandra M. Cheney
  • , Stephanann M. Costello
  •  & Seth T. Walk

• Article
  24 March 2022 | Open Access

  A genome-wide meta-analysis identifies 50 genetic loci associated with carpal tunnel syndrome

  The underlying genetics of carpal tunnel syndrome is not well understood. Here, the authors perform a GWAS meta-analysis for carpal tunnel syndrome finding variants at 50 loci with connections to the extracellular matrix discovered through various functional analyses.

  • Astros Th. Skuladottir
  • , Gyda Bjornsdottir
  •  & Kari Stefansson

• Article
  23 July 2021 | Open Access

  Therapeutic manipulation of IKBKAP mis-splicing with a small molecule to cure familial dysautonomia

  Familial dysautonomia is caused by splicing mutation of IKBKAP gene, which induces skipping of exon 20 and subsequent functional loss. Here, the authors report that a synthetic splice modulator RECTAS ameliorates pathogenic exon 20 skipping and shows therapeutic effects in cellular and animal models.

  • Masahiko Ajiro
  • , Tomonari Awaya
  •  & Masatoshi Hagiwara

• Article
  20 July 2021 | Open Access

  Self-healing polyurethane-elastomer with mechanical tunability for multiple biomedical applications in vivo

  The unique properties of self-healing materials hold great potential in the field of biomedical engineering. Here, the authors designed a series of biodegradable and biocompatible self-healing elastomers with tunable mechanical properties, and apply them to various disease models in vivo, including aortic aneurism, bone fracture and nerve amputation.

  • Chenyu Jiang
  • , Luzhi Zhang
  •  & Xiaofeng Ye

• Article
  29 May 2020 | Open Access

  TRPV4 disrupts mitochondrial transport and causes axonal degeneration via a CaMKII-dependent elevation of intracellular Ca²⁺

  Mutations in the TRPV4 channel cause inherited neurodegeneration syndromes, but the molecular mechanisms are unknown. Here the authors reveal that TRPV4 activation causes dose-dependent, CaMKII-mediated neuronal dysfunction and axonal degeneration via disruption of mitochondrial axonal transport.

  • Brian M. Woolums
  • , Brett A. McCray
  •  & Thomas E. Lloyd

• Article
  16 April 2019 | Open Access

  A PRPH splice-donor variant associates with reduced sural nerve amplitude and risk of peripheral neuropathy

  Diagnosis and classification of peripheral neuropathy (PN) is facilitated by nerve conduction (NC) studies. Here, Bjornsdottir et al. find a low-frequency PRPH splice-donor variant that associates with NC amplitude and neurological assessment of recalled PRPH variant carriers reveals increased risk of a mild sensory-negative PN.

  • Gyda Bjornsdottir
  • , Erna V. Ivarsdottir
  •  & Kari Stefansson

• Article
  01 April 2019 | Open Access

  NRG1 type I dependent autoparacrine stimulation of Schwann cells in onion bulbs of peripheral neuropathies

  Onion bulbs are a hallmark of demyelinating peripheral neuropathies. Here the authors identify Neuregulin-1 type I expression in Schwann cells as an essential mechanism involved in the formation of these characteristic structures.

  • Robert Fledrich
  • , Dagmar Akkermann
  •  & Ruth M. Stassart

• Article
  04 March 2019 | Open Access

  A genome-wide association analysis identifies 16 novel susceptibility loci for carpal tunnel syndrome

  Carpal tunnel syndrome (CTS) is caused by entrapment of the median nerve at the wrist. Here, Wiberg et al. perform a GWAS for CTS in the UK Biobank cohort and identify 16 genetic loci, and find a causal relationship between short stature and CTS risk using Mendelian randomisation.

  • Akira Wiberg
  • , Michael Ng
  •  & Dominic Furniss

• Article
  03 July 2015 | Open Access

  Impaired protein translation in Drosophila models for Charcot–Marie–Tooth neuropathy caused by mutant tRNA synthetases

  Charcot–Marie–Tooth (CMT) neuropathy is associated with dominant mutations in five tRNA synthetase genes. Niehues et al. use BONCAT and FUNCAT to monitor proteome dynamics in a DrosophilaCMT model, and reveal that these mutations result in translational slowdown.

  • Sven Niehues
  • , Julia Bussmann
  •  & Erik Storkebaum