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References
These sources were used to develop the Genetics Home Reference
gene summary
on the
NDRG1
gene.
Claramunt R, Sevilla T, Lupo V, Cuesta A, Millán JM, Vílchez JJ, Palau F, Espinós C. The p.R1109X mutation in SH3TC2 gene is predominant in Spanish Gypsies with Charcot-Marie-Tooth disease type 4. Clin Genet. 2007 Apr;71(4):343-9.
PubMed citation
Dubourg O, Azzedine H, Verny C, Durosier G, Birouk N, Gouider R, Salih M, Bouhouche A, Thiam A, Grid D, Mayer M, Ruberg M, Tazir M, Brice A, LeGuern E. Autosomal-recessive forms of demyelinating Charcot-Marie-Tooth disease. Neuromolecular Med. 2006;8(1-2):75-86. Review.
PubMed citation
Entrez
Gene
Gene Review: Charcot-Marie-Tooth Neuropathy Type
4
Hirata K, Masuda K, Morikawa W, He JW, Kuraoka A, Kuwano M, Kawabuchi M. N-myc downstream-regulated gene 1 expression in injured sciatic nerves. Glia. 2004 Sep;47(4):325-34.
PubMed citation
Hunter M, Angelicheva D, Tournev I, Ingley E, Chan DC, Watts GF, Kremensky I, Kalaydjieva L. NDRG1 interacts with APO A-I and A-II and is a functional candidate for the HDL-C QTL on 8q24. Biochem Biophys Res Commun. 2005 Jul 15;332(4):982-92.
PubMed citation
Hunter M, Bernard R, Freitas E, Boyer A, Morar B, Martins IJ, Tournev I, Jordanova A, Guergelcheva V, Ishpekova B, Kremensky I, Nicholson G, Schlotter B, Lochmüller H, Voit T, Colomer J, Thomas PK, Levy N, Kalaydjieva L. Mutation screening of the N-myc downstream-regulated gene 1 (NDRG1) in patients with Charcot-Marie-Tooth Disease. Hum Mutat. 2003 Aug;22(2):129-35.
PubMed citation
Kabzinska D, Hausmanowa-Petrusewicz I, Kochanski A. Charcot-Marie-Tooth disorders with an autosomal recessive mode of inheritance. Clin Neuropathol. 2008 Jan-Feb;27(1):1-12. Review.
PubMed citation
Kalaydjieva L, Gresham D, Gooding R, Heather L, Baas F, de Jonge R, Blechschmidt K, Angelicheva D, Chandler D, Worsley P, Rosenthal A, King RH, Thomas PK. N-myc downstream-regulated gene 1 is mutated in hereditary motor and sensory neuropathy-Lom. Am J Hum Genet. 2000 Jul;67(1):47-58. Epub 2000 May 30.
PubMed citation
Okuda T, Higashi Y, Kokame K, Tanaka C, Kondoh H, Miyata T. Ndrg1-deficient mice exhibit a progressive demyelinating disorder of peripheral nerves. Mol Cell Biol. 2004 May;24(9):3949-56.
PubMed citation
Young P, Suter U. The causes of Charcot-Marie-Tooth disease. Cell Mol Life Sci. 2003 Dec;60(12):2547-60. Review.
PubMed citation
Reviewed: January 2010
Published: May 20, 2013