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Journal article

Myotubularin-related 2 protein phosphatase and neurofilament light chain protein, both mutated in CMT neuropathies, interact in peripheral nerve.

Abstract:

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 cellular and subcellular distribution of Mtmr2 in nerve. Mtmr2 was detected in all cytop...

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Publication status:
Published

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Publisher copy:
10.1093/hmg/ddg179

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Journal:
Human molecular genetics
Volume:
12
Issue:
14
Pages:
1713-1723
Publication date:
2003-07-01
DOI:
EISSN:
1460-2083
ISSN:
0964-6906
Source identifiers:
38728
Language:
English
Keywords:
Pubs id:
pubs:38728
UUID:
uuid:a785419f-ba5f-41df-b975-22fcbe291705
Local pid:
pubs:38728
Deposit date:
2012-12-19

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