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Results: 1 to 20 of 29

1.

Characteristics of demyelinating Charcot-Marie-Tooth disease with concurrent diabetes mellitus.

Yu Z, Wu X, Xie H, Han Y, Guan Y, Qin Y, Zheng H, Jiang J, Niu Z.

Int J Clin Exp Pathol. 2014 Jun 15;7(7):4329-38. eCollection 2014.

PMID:
25120817
[PubMed - in process]
Free PMC Article
2.

LITAF mutations associated with Charcot-Marie-Tooth disease 1C show mislocalization from the late endosome/lysosome to the mitochondria.

Lacerda AF, Hartjes E, Brunetti CR.

PLoS One. 2014 Jul 24;9(7):e103454. doi: 10.1371/journal.pone.0103454. eCollection 2014.

PMID:
25058650
[PubMed - in process]
Free PMC Article
3.

LITAF, a BCL6 target gene, regulates autophagy in mature B-cell lymphomas.

Bertolo C, Roa S, Sagardoy A, Mena-Varas M, Robles EF, Martinez-Ferrandis JI, Sagaert X, Tousseyn T, Orta A, Lossos IS, Amar S, Natkunam Y, Briones J, Melnick A, Malumbres R, Martinez-Climent JA.

Br J Haematol. 2013 Sep;162(5):621-30. doi: 10.1111/bjh.12440. Epub 2013 Jun 25.

PMID:
23795761
[PubMed - indexed for MEDLINE]
Free PMC Article
4.

SIMPLE: A new regulator of endosomal trafficking and signaling in health and disease.

Chin LS, Lee SM, Li L.

Commun Integr Biol. 2013 May 1;6(3):e24214. doi: 10.4161/cib.24214. Epub 2013 Apr 9.

PMID:
23713142
[PubMed]
Free PMC Article
5.

Inherited peripheral neuropathies.

Saporta MA, Shy ME.

Neurol Clin. 2013 May;31(2):597-619. doi: 10.1016/j.ncl.2013.01.009. Epub 2013 Mar 5. Review.

PMID:
23642725
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

Mutation of SIMPLE in Charcot-Marie-Tooth 1C alters production of exosomes.

Zhu H, Guariglia S, Yu RY, Li W, Brancho D, Peinado H, Lyden D, Salzer J, Bennett C, Chow CW.

Mol Biol Cell. 2013 Jun;24(11):1619-37, S1-3. doi: 10.1091/mbc.E12-07-0544. Epub 2013 Apr 10.

PMID:
23576546
[PubMed - indexed for MEDLINE]
Free PMC Article
7.

Loss of the E3 ubiquitin ligase LRSAM1 sensitizes peripheral axons to degeneration in a mouse model of Charcot-Marie-Tooth disease.

Bogdanik LP, Sleigh JN, Tian C, Samuels ME, Bedard K, Seburn KL, Burgess RW.

Dis Model Mech. 2013 May;6(3):780-92. doi: 10.1242/dmm.010942. Epub 2013 Mar 8.

PMID:
23519028
[PubMed - indexed for MEDLINE]
Free PMC Article
8.

Motor and sensory neuropathy due to myelin infolding and paranodal damage in a transgenic mouse model of Charcot-Marie-Tooth disease type 1C.

Lee SM, Sha D, Mohammed AA, Asress S, Glass JD, Chin LS, Li L.

Hum Mol Genet. 2013 May 1;22(9):1755-70. doi: 10.1093/hmg/ddt022. Epub 2013 Jan 28.

PMID:
23359569
[PubMed - indexed for MEDLINE]
Free PMC Article
9.

Early growth response genes signaling supports strong paracrine capability of mesenchymal stem cells.

Tamama K, Barbeau DJ.

Stem Cells Int. 2012;2012:428403. doi: 10.1155/2012/428403. Epub 2012 Dec 6.

PMID:
23304166
[PubMed]
Free PMC Article
10.

Molecular genetics of charcot-marie-tooth disease: from genes to genomes.

Azzedine H, Senderek J, Rivolta C, Chrast R.

Mol Syndromol. 2012 Nov;3(5):204-14. doi: 10.1159/000343487. Epub 2012 Oct 12.

PMID:
23293578
[PubMed]
Free PMC Article
11.

Charcot-Marie-Tooth disease-linked protein SIMPLE functions with the ESCRT machinery in endosomal trafficking.

Lee SM, Chin LS, Li L.

J Cell Biol. 2012 Nov 26;199(5):799-816. doi: 10.1083/jcb.201204137. Epub 2012 Nov 19.

PMID:
23166352
[PubMed - indexed for MEDLINE]
Free PMC Article
12.

Inherited neuropathies.

Li J.

Semin Neurol. 2012 Jul;32(3):204-14. doi: 10.1055/s-0032-1329198. Epub 2012 Nov 1. Review.

PMID:
23117945
[PubMed - indexed for MEDLINE]
Free PMC Article
13.

Charcot-Marie-Tooth disease and intracellular traffic.

Bucci C, Bakke O, Progida C.

Prog Neurobiol. 2012 Dec;99(3):191-225. doi: 10.1016/j.pneurobio.2012.03.003. Epub 2012 Mar 22. Review.

PMID:
22465036
[PubMed - indexed for MEDLINE]
Free PMC Article
14.

Developmental Controls are Re-Expressed during Induction of Neurogenesis in the Neocortex of Young Adult Mice.

Sohur US, Arlotta P, Macklis JD.

Front Neurosci. 2012 Feb 6;6:12. doi: 10.3389/fnins.2012.00012. eCollection 2012.

PMID:
22347158
[PubMed]
Free PMC Article
15.

Accumulation of endogenous LITAF in aggresomes.

Eaton HE, Metcalf J, Lacerda AF, Brunetti CR.

PLoS One. 2012;7(1):e30003. doi: 10.1371/journal.pone.0030003. Epub 2012 Jan 19.

PMID:
22276139
[PubMed - indexed for MEDLINE]
Free PMC Article
16.

Mutations associated with Charcot-Marie-Tooth disease cause SIMPLE protein mislocalization and degradation by the proteasome and aggresome-autophagy pathways.

Lee SM, Olzmann JA, Chin LS, Li L.

J Cell Sci. 2011 Oct 1;124(Pt 19):3319-31. doi: 10.1242/jcs.087114. Epub 2011 Sep 6.

PMID:
21896645
[PubMed - indexed for MEDLINE]
Free PMC Article
17.

The LSD1-interacting protein GILP is a LITAF domain protein that negatively regulates hypersensitive cell death in Arabidopsis.

He S, Tan G, Liu Q, Huang K, Ren J, Zhang X, Yu X, Huang P, An C.

PLoS One. 2011 Apr 19;6(4):e18750. doi: 10.1371/journal.pone.0018750. Erratum in: PLoS One. 2011;6(6). doi:10.1371/annotation/64462bfc-a7c6-48e2-9710-8ecea202e4a8.

PMID:
21526181
[PubMed - indexed for MEDLINE]
Free PMC Article
18.

Update on Charcot-Marie-Tooth disease.

Patzkó A, Shy ME.

Curr Neurol Neurosci Rep. 2011 Feb;11(1):78-88. doi: 10.1007/s11910-010-0158-7. Review.

PMID:
21080241
[PubMed - indexed for MEDLINE]
Free PMC Article
19.

Compound heterozygosity for loss-of-function lysyl-tRNA synthetase mutations in a patient with peripheral neuropathy.

McLaughlin HM, Sakaguchi R, Liu C, Igarashi T, Pehlivan D, Chu K, Iyer R, Cruz P, Cherukuri PF, Hansen NF, Mullikin JC; NISC Comparative Sequencing Program, Biesecker LG, Wilson TE, Ionasescu V, Nicholson G, Searby C, Talbot K, Vance JM, Züchner S, Szigeti K, Lupski JR, Hou YM, Green ED, Antonellis A.

Am J Hum Genet. 2010 Oct 8;87(4):560-6. doi: 10.1016/j.ajhg.2010.09.008.

PMID:
20920668
[PubMed - indexed for MEDLINE]
Free PMC Article
20.

Mutation in the gene encoding ubiquitin ligase LRSAM1 in patients with Charcot-Marie-Tooth disease.

Guernsey DL, Jiang H, Bedard K, Evans SC, Ferguson M, Matsuoka M, Macgillivray C, Nightingale M, Perry S, Rideout AL, Orr A, Ludman M, Skidmore DL, Benstead T, Samuels ME.

PLoS Genet. 2010 Aug 26;6(8). pii: e1001081. doi: 10.1371/journal.pgen.1001081.

PMID:
20865121
[PubMed - indexed for MEDLINE]
Free PMC Article

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