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Items: 1 to 20 of 142

1.

SIMPLE mutations in Charcot-Marie-Tooth disease and the potential role of its protein product in protein degradation.

Saifi GM, Szigeti K, Wiszniewski W, Shy ME, Krajewski K, Hausmanowa-Petrusewicz I, Kochanski A, Reeser S, Mancias P, Butler I, Lupski JR.

Hum Mutat. 2005 Apr;25(4):372-83.

PMID:
15776429
2.

SIMPLE interacts with NEDD4 and TSG101: evidence for a role in lysosomal sorting and implications for Charcot-Marie-Tooth disease.

Shirk AJ, Anderson SK, Hashemi SH, Chance PF, Bennett CL.

J Neurosci Res. 2005 Oct 1;82(1):43-50.

PMID:
16118794
3.

Mutation of a putative protein degradation gene LITAF/SIMPLE in Charcot-Marie-Tooth disease 1C.

Street VA, Bennett CL, Goldy JD, Shirk AJ, Kleopa KA, Tempel BL, Lipe HP, Scherer SS, Bird TD, Chance PF.

Neurology. 2003 Jan 14;60(1):22-6.

PMID:
12525712
4.

Genetic epidemiology of Charcot-Marie-Tooth disease.

Braathen GJ.

Acta Neurol Scand Suppl. 2012;(193):iv-22. doi: 10.1111/ane.12013.

PMID:
23106488
5.

Phenotypic spectrum of Charcot-Marie-Tooth disease due to LITAF/SIMPLE mutations: a study of 18 patients.

Guimarães-Costa R, Iancu Ferfoglia R, Leonard-Louis S, Ziegler F, Magy L, Fournier E, Dubourg O, Bouche P, Maisonobe T, Lacour A, Moerman A, Latour P, Stojkovic T.

Eur J Neurol. 2017 Mar;24(3):530-538. doi: 10.1111/ene.13239.

PMID:
28211240
6.

[Molecular genetics of inherited neuropathies].

Takashima H.

Rinsho Shinkeigaku. 2006 Jan;46(1):1-18. Review. Japanese.

PMID:
16541790
7.

[Mutation analysis of LITAF, RAB7, LMNA and MTMR2 genes in Chinese Charcot-Marie-Tooth disease.].

Zhang RX, Guo P, Ren ZJ, Zhao GH, Liu SM, Liu T, Zi XH, Hu ZM, Xia K, Tang BS.

Yi Chuan. 2010 Aug;32(8):817-23. Chinese.

PMID:
20709679
8.

A novel mutation in LRSAM1 causes axonal Charcot-Marie-Tooth disease with dominant inheritance.

Engeholm M, Sekler J, Schöndorf DC, Arora V, Schittenhelm J, Biskup S, Schell C, Gasser T.

BMC Neurol. 2014 Jun 3;14:118. doi: 10.1186/1471-2377-14-118.

9.

A novel LITAF/SIMPLE mutation within a family with a demyelinating form of Charcot-Marie-Tooth disease.

Ciotti P, Luigetti M, Geroldi A, Capponi S, Pezzini I, Gulli R, Pazzaglia C, Padua L, Massa R, Mandich P, Bellone E.

J Neurol Sci. 2014 Aug 15;343(1-2):183-6. doi: 10.1016/j.jns.2014.05.029. Epub 2014 May 22.

PMID:
24880540
10.

LRSAM1-mediated ubiquitylation is disrupted in axonal Charcot-Marie-Tooth disease 2P.

Hakonen JE, Sorrentino V, Avagliano Trezza R, de Wissel MB, van den Berg M, Bleijlevens B, van Ruissen F, Distel B, Baas F, Zelcer N, Weterman MAJ.

Hum Mol Genet. 2017 Jun 1;26(11):2034-2041. doi: 10.1093/hmg/ddx089.

PMID:
28335037
11.

Charcot-Marie-Tooth disease and related inherited neuropathies.

Murakami T, Garcia CA, Reiter LT, Lupski JR.

Medicine (Baltimore). 1996 Sep;75(5):233-50. Review.

12.

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.

14.

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.

15.

Charcot-Marie-Tooth disease type 1C: Clinical and electrophysiological findings for the c.334G>a (p.Gly112Ser) Litaf/Simple mutation.

Jerath NU, Shy ME.

Muscle Nerve. 2017 Dec;56(6):1092-1095. doi: 10.1002/mus.25600. Epub 2017 Apr 29.

PMID:
28164329
16.

Dysregulated Inflammatory Signaling upon Charcot-Marie-Tooth Type 1C Mutation of SIMPLE Protein.

Li W, Zhu H, Zhao X, Brancho D, Liang Y, Zou Y, Bennett C, Chow CW.

Mol Cell Biol. 2015 Jul;35(14):2464-78.

17.

The topology, structure and PE interaction of LITAF underpin a Charcot-Marie-Tooth disease type 1C.

Ho AK, Wagstaff JL, Manna PT, Wartosch L, Qamar S, Garman EF, Freund SM, Roberts RC.

BMC Biol. 2016 Dec 7;14(1):109.

18.

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.

19.

SIMPLE mutation analysis in dominant demyelinating Charcot-Marie-Tooth disease: three novel mutations.

Latour P, Gonnaud PM, Ollagnon E, Chan V, Perelman S, Stojkovic T, Stoll C, Vial C, Ziegler F, Vandenberghe A, Maire I.

J Peripher Nerv Syst. 2006 Jun;11(2):148-55.

PMID:
16787513
20.

Myelin protein zero (MPZ) gene mutations in nonduplication type 1 Charcot-Marie-Tooth disease.

Roa BB, Warner LE, Garcia CA, Russo D, Lovelace R, Chance PF, Lupski JR.

Hum Mutat. 1996;7(1):36-45.

PMID:
8664899

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