Role of mitofusin 2 mutations in the physiopathology of Charcot–Marie–Tooth disease type 2A

@article{Cartoni2009RoleOM,
  title={Role of mitofusin 2 mutations in the physiopathology of Charcot–Marie–Tooth disease type 2A},
  author={Romain Cartoni and J C Martinou},
  journal={Experimental Neurology},
  year={2009},
  volume={218},
  pages={268-273}
}
Charcot-Marie-Tooth disease (CMT) is the most common form of hereditary peripheral neuropathy. The main axonal form of CMT, CMT2A, preferentially affects peripheral neurons with the longest neurites. CMT2A has been recently linked to mutations in the mitofusin 2 (Mfn2) gene. Mfn2 participates in mitochondrial fusion a process that together with mitochondrial fission, contributes to mitochondrial morphology. Many hypotheses have been postulated to understand how mutations in Mfn2 lead to CMT2A… CONTINUE READING

Citations

Publications citing this paper.
SHOWING 1-10 OF 70 CITATIONS, ESTIMATED 61% COVERAGE

The soluble form of Bax regulates mitochondrial fusion via MFN2 homotypic complexes.

VIEW 6 EXCERPTS
CITES BACKGROUND
HIGHLY INFLUENCED

The power of yeast to model diseases of the powerhouse of the cell.

VIEW 6 EXCERPTS
CITES BACKGROUND
HIGHLY INFLUENCED

Altered interplay between endoplasmic reticulum and mitochondria in Charcot-Marie-Tooth type 2A neuropathy.

VIEW 1 EXCERPT

Restoring mitofusin balance prevents axonal degeneration in a Charcot-Marie-Tooth type 2A model

VIEW 1 EXCERPT
CITES BACKGROUND

Late‐onset hereditary sensory and autonomic neuropathy expands the phenotypic spectrum of MFN2‐related diseases

  • Rui Wu, Jun Fu, +3 authors Yun Yuan
  • Biology, Medicine
  • Neuropathology : official journal of the Japanese Society of Neuropathology
  • 2018
VIEW 1 EXCERPT
CITES BACKGROUND

FILTER CITATIONS BY YEAR

2009
2019

CITATION STATISTICS

  • 2 Highly Influenced Citations

References

Publications referenced by this paper.
SHOWING 1-10 OF 57 REFERENCES

Early onset severe and late-onset mild Charcot-Marie-Tooth disease with mitofusin 2 (MFN2) mutations.

VIEW 5 EXCERPTS
HIGHLY INFLUENTIAL

Mitochondrial fusion protects against neurodegeneration

  • H. Chen, J. M. McCaffery, D. C. Chan
  • in the cerebellum. Cell
  • 2007
VIEW 9 EXCERPTS
HIGHLY INFLUENTIAL

Dysregulation of HSG triggers vascular proliferative disorders

VIEW 3 EXCERPTS
HIGHLY INFLUENTIAL

Charcot-Marie-Tooth disease: a clinico-genetic confrontation.

VIEW 3 EXCERPTS