Gene Locus : human-NDRG1
Mode of mutation : Natural mutant
Disease : Hereditary motor and sensory neuropathy, LOM Type
Summary :
AAA Change :
Allelic Variant :
Risk Factor :
Inhibitor :
Structure :
Disease by interaction :
Interact Gene Locus :
Xenobiotic sensitivity :
Modification :
Torpedo_number : No torpedo number
Kinetic Parameter : No kinetic parameter
News : No news
Comment : p.R148X Arg148Ter. Kalaydjieva et al. (1996) stated that HMSNL is characterized by distal muscle wasting and atrophy, foot and hand deformities, tendon areflexia, and sensory loss. Onset is in the first decade and most patients become severely disabled in the fifth decade. Deafness is an invariant feature of the phenotype and usually develops in the third decade. HMSNL shows features of Schwann cell dysfunction and a concomitant early axonal involvement, suggesting that impaired axon-glia interactions play a major role in its pathogenesis. Kalaydjieva et al. (2000) identified the founder HMSNL mutation, a nonsense arg148-to-ter mutation in the NDRG1 gene
| Title : Clinical, electrophysiological and pathological findings in a patient with Charcot-Marie-Tooth disease 4D caused by the NDRG1 Lom mutation - |
| Author(s) : Luigetti M , Taroni F , Milani M , Del Grande A , Romano A , Bisogni G , Conte A , Contaldo I , Mercuri E , Sabatelli M |
| Ref : Journal of Neurology Sci , 345 :271 , 2014 |
| PubMedID: 25108819 |
| Gene_locus related to this paper: human-NDRG1 |
| Title : Genetics of the Charcot-Marie-Tooth disease in the Spanish Gypsy population: the hereditary motor and sensory neuropathy-Russe in depth - Sevilla_2013_Clin.Genet_83_565 |
| Author(s) : Sevilla T , Martinez-Rubio D , Marquez C , Paradas C , Colomer J , Jaijo T , Millan J , Palau F , Espinos C , Millan JM |
| Ref : Clin Genet , 83 :565 , 2013 |
| Abstract : Sevilla_2013_Clin.Genet_83_565 |
| ESTHER : Sevilla_2013_Clin.Genet_83_565 |
| PubMedSearch : Sevilla_2013_Clin.Genet_83_565 |
| PubMedID: 22978647 |
| Gene_locus related to this paper: human-NDRG1 |
| Title : Hereditary motor and sensory neuropathy Lom type in a Serbian family - Dackovic_2008_Acta.Myol_27_59 |
| Author(s) : Dackovic J , Keckarevic-Markovic M , Komazec Z , Rakocevic-Stojanovic V , Lavrnic D , Stevic Z , Ribaric K , Romac S , Apostolski S |
| Ref : Acta Myol , 27 :59 , 2008 |
| Abstract : Dackovic_2008_Acta.Myol_27_59 |
| ESTHER : Dackovic_2008_Acta.Myol_27_59 |
| PubMedSearch : Dackovic_2008_Acta.Myol_27_59 |
| PubMedID: 19364063 |
| Gene_locus related to this paper: human-NDRG1 |
| Title : The p.R1109X mutation in SH3TC2 gene is predominant in Spanish Gypsies with Charcot-Marie-Tooth disease type 4 - Claramunt_2007_Clin.Genet_71_343 |
| Author(s) : Claramunt R , Sevilla T , Lupo V , Cuesta A , Millan JM , Vilchez JJ , Palau F , Espinos C |
| Ref : Clin Genet , 71 :343 , 2007 |
| Abstract : Claramunt_2007_Clin.Genet_71_343 |
| ESTHER : Claramunt_2007_Clin.Genet_71_343 |
| PubMedSearch : Claramunt_2007_Clin.Genet_71_343 |
| PubMedID: 17470135 |
| Gene_locus related to this paper: human-NDRG1 |
| Title : NDRG1-linked Charcot-Marie-Tooth disease (CMT4D) with central nervous system involvement - Echaniz-Laguna_2007_Neuromuscul.Disord_17_163 |
| Author(s) : Echaniz-Laguna A , Degos B , Bonnet C , Latour P , Hamadouche T , Levy N , Leheup B |
| Ref : Neuromuscular Disorders , 17 :163 , 2007 |
| Abstract : Echaniz-Laguna_2007_Neuromuscul.Disord_17_163 |
| ESTHER : Echaniz-Laguna_2007_Neuromuscul.Disord_17_163 |
| PubMedSearch : Echaniz-Laguna_2007_Neuromuscul.Disord_17_163 |
| PubMedID: 17142040 |
| Gene_locus related to this paper: human-NDRG1 |
| Title : NDRG1 interacts with APO A-I and A-II and is a functional candidate for the HDL-C QTL on 8q24 - Hunter_2005_Biochem.Biophys.Res.Commun_332_982 |
| Author(s) : Hunter M , Angelicheva D , Tournev I , Ingley E , Chan DC , Watts GF , Kremensky I , Kalaydjieva L |
| Ref : Biochemical & Biophysical Research Communications , 332 :982 , 2005 |
| Abstract : Hunter_2005_Biochem.Biophys.Res.Commun_332_982 |
| ESTHER : Hunter_2005_Biochem.Biophys.Res.Commun_332_982 |
| PubMedSearch : Hunter_2005_Biochem.Biophys.Res.Commun_332_982 |
| PubMedID: 15922294 |
| Title : Clinicopathological and genetic study of early-onset demyelinating neuropathy - Parman_2004_Brain_127_2540 |
| Author(s) : Parman Y , Battaloglu E , Baris I , Bilir B , Poyraz M , Bissar-Tadmouri N , Williams A , Ammar N , Nelis E , Timmerman V , De Jonghe P , Najafov A , Deymeer F , Serdaroglu P , Brophy PJ , Said G |
| Ref : Brain , 127 :2540 , 2004 |
| Abstract : Parman_2004_Brain_127_2540 |
| ESTHER : Parman_2004_Brain_127_2540 |
| PubMedSearch : Parman_2004_Brain_127_2540 |
| PubMedID: 15469949 |
| Title : N-myc downstream-regulated gene 1 is mutated in hereditary motor and sensory neuropathy-Lom - Kalaydjieva_2000_Am.J.Hum.Genet_67_47 |
| Author(s) : 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 |
| Ref : American Journal of Human Genetics , 67 :47 , 2000 |
| Abstract : Kalaydjieva_2000_Am.J.Hum.Genet_67_47 |
| ESTHER : Kalaydjieva_2000_Am.J.Hum.Genet_67_47 |
| PubMedSearch : Kalaydjieva_2000_Am.J.Hum.Genet_67_47 |
| PubMedID: 10831399 |
| Gene_locus related to this paper: human-NDRG1 |