Article
Myotubularin-related 2 protein phosphatase and neurofilament light chain protein, both mutated in CMT neuropathies, interact in peripheral nerve.
Human molecular genetics - 15 Jul 2003
Previtali Stefano C, Zerega Barbara, Sherman Diane L, Brophy Peter J, Dina Giorgia, King Rosalind H M, Salih Mustafa M, Feltri Laura, Quattrini Angelo, Ravazzolo Roberto, Wrabetz Lawrence, Monaco Anthony P, Bolino Alessandra
Abstract excerpt
Charcot-Marie-Tooth disease type 4B1, CMT4B1, is a severe, autosomal-recessive, demyelinating peripheral neuropathy, due to mutations in the Myotubularin-related 2 gene, MTMR2. MTMR2 is widely expressed and encodes a phosphatase whose substrates include phosphoinositides. However, this does not explain how MTMR2 mutants specifically produce demyelination in the peripheral nerve. Therefore, we analysed the...
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