KIF1A, an axonal transporter of synaptic vesicles, is mutated in hereditary sensory and autonomic neuropathy type 2.

@article{Rivire2011KIF1AAA,
  title={KIF1A, an axonal transporter of synaptic vesicles, is mutated in hereditary sensory and autonomic neuropathy type 2.},
  author={Jean-Baptiste Rivi{\`e}re and Siriram Ramalingam and Val{\'e}rie Lavastre and Masoud Shekarabi and S{\'e}bastien Holbert and Julie Lafontaine and Myriam Srour and Nancy D Merner and Daniel L. Rochefort and Pascale Hince and R{\'e}becca Gaudet and Anne-Marie Mes-Masson and Jonathan Baets and Henry Houlden and Bernard Brais and Garth A. Nicholson and Hilde van Esch and Shahriar Nafissi and Peter de Jonghe and Mary M Reilly and Vincent Timmerman and Patrick A. Dion and Guy Rouleau},
  journal={American journal of human genetics},
  year={2011},
  volume={89 2},
  pages={219-30}
}
Hereditary sensory and autonomic neuropathy type II (HSANII) is a rare autosomal-recessive disorder characterized by peripheral nerve degeneration resulting in a severe distal sensory loss. Although mutations in FAM134B and the HSN2 exon of WNK1 were associated with HSANII, the etiology of a substantial number of cases remains unexplained. In addition, the functions of WNK1/HSN2 and FAM134B and their role in the peripheral nervous system remain poorly understood. Using a yeast two-hybrid screen… CONTINUE READING
Recent Discussions
This paper has been referenced on Twitter 1 time over the past 90 days. VIEW TWEETS
46 Citations
0 References
Similar Papers

Citations

Publications citing this paper.
Showing 1-10 of 46 extracted citations

Similar Papers

Loading similar papers…