134 related articles for article (PubMed ID: 28335037)
1. 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; 26(11):2034-2041. PubMed ID: 28335037
[TBL] [Abstract][Full Text] [Related]
2. LRSAM1 and the RING domain: Charcot-Marie-Tooth disease and beyond.
Palaima P; Berciano J; Peeters K; Jordanova A
Orphanet J Rare Dis; 2021 Feb; 16(1):74. PubMed ID: 33568173
[TBL] [Abstract][Full Text] [Related]
3. Charcot-Marie-Tooth disease type 2G redefined by a novel mutation in LRSAM1.
Peeters K; Palaima P; Pelayo-Negro AL; García A; Gallardo E; García-Barredo R; Mateiu L; Baets J; Menten B; De Vriendt E; De Jonghe P; Timmerman V; Infante J; Berciano J; Jordanova A
Ann Neurol; 2016 Dec; 80(6):823-833. PubMed ID: 27686364
[TBL] [Abstract][Full Text] [Related]
4. 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; 14():118. PubMed ID: 24894446
[TBL] [Abstract][Full Text] [Related]
5. A novel missense mutation of CMT2P alters transcription machinery.
Hu B; Arpag S; Zuchner S; Li J
Ann Neurol; 2016 Dec; 80(6):834-845. PubMed ID: 27615052
[TBL] [Abstract][Full Text] [Related]
6. Genetic epidemiology of Charcot-Marie-Tooth disease.
Braathen GJ
Acta Neurol Scand Suppl; 2012; (193):iv-22. PubMed ID: 23106488
[TBL] [Abstract][Full Text] [Related]
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. PubMed ID: 23519028
[TBL] [Abstract][Full Text] [Related]
8. A novel mutation in the LRSAM1 gene in a family with early onset autosomal dominant Charcot-Marie-Tooth type 2P.
Milella G; Amati A; Lastella P; Zanfardino P; Petruzzella V; Zoccolella S
Clin Neurol Neurosurg; 2024 Feb; 237():108158. PubMed ID: 38330802
[TBL] [Abstract][Full Text] [Related]
9. A novel LRSAM1 mutation is associated with autosomal dominant axonal Charcot-Marie-Tooth disease.
Nicolaou P; Cianchetti C; Minaidou A; Marrosu G; Zamba-Papanicolaou E; Middleton L; Christodoulou K
Eur J Hum Genet; 2013 Feb; 21(2):190-4. PubMed ID: 22781092
[TBL] [Abstract][Full Text] [Related]
10. A novel mutation of LRSAM1 in a Chinese family with Charcot-Marie-Tooth disease.
Zhao G; Song J; Yang M; Song X; Liu X
J Peripher Nerv Syst; 2018 Mar; 23(1):55-59. PubMed ID: 29341362
[TBL] [Abstract][Full Text] [Related]
11. Deregulation of LRSAM1 expression impairs the levels of TSG101, UBE2N, VPS28, MDM2 and EGFR.
Minaidou A; Nicolaou P; Christodoulou K
PLoS One; 2019; 14(2):e0211814. PubMed ID: 30726272
[TBL] [Abstract][Full Text] [Related]
12. Location matters - Genotype-phenotype correlation in LRSAM1 mutations associated with rare Charcot-Marie-Tooth neuropathy CMT2P.
Reilich P; Schlotter B; Montagnese F; Jordan B; Stock F; Schäff-Vogelsang M; Hotter B; Eger K; Diebold I; Erdmann H; Becker K; Schön U; Abicht A
Neuromuscul Disord; 2021 Feb; 31(2):123-133. PubMed ID: 33414056
[TBL] [Abstract][Full Text] [Related]
13. 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; 6(8):. PubMed ID: 20865121
[TBL] [Abstract][Full Text] [Related]
14. 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. PubMed ID: 15776429
[TBL] [Abstract][Full Text] [Related]
15. LRSAM1 E3 ubiquitin ligase: molecular neurobiological perspectives linked with brain diseases.
Mishra R; Upadhyay A; Prajapati VK; Dhiman R; Poluri KM; Jana NR; Mishra A
Cell Mol Life Sci; 2019 Jun; 76(11):2093-2110. PubMed ID: 30826859
[TBL] [Abstract][Full Text] [Related]
16. LRSAM1 variants and founder effect in French families with ataxic form of Charcot-Marie-Tooth type 2.
Peretti A; Perie M; Vincent D; Bouhour F; Dieterich K; Mallaret M; Duval F; Goizet C; Juntas-Morales R; Magy L; Solé G; Nollet S; Not A; Léonard-Louis S; Francou B; Leguern E; Lia AS; Magdelaine C; Latour P; Stojkovic T
Eur J Hum Genet; 2019 Sep; 27(9):1406-1418. PubMed ID: 30996334
[TBL] [Abstract][Full Text] [Related]
17. C698R mutation in Lrsam1 gene impairs nerve regeneration in a CMT2P mouse model.
Moiseev D; Wazir Z; Liu D; Li J; Hu B
Sci Rep; 2022 Jul; 12(1):12160. PubMed ID: 35842440
[TBL] [Abstract][Full Text] [Related]
18. A frameshift mutation in LRSAM1 is responsible for a dominant hereditary polyneuropathy.
Weterman MA; Sorrentino V; Kasher PR; Jakobs ME; van Engelen BG; Fluiter K; de Wissel MB; Sizarov A; Nürnberg G; Nürnberg P; Zelcer N; Schelhaas HJ; Baas F
Hum Mol Genet; 2012 Jan; 21(2):358-70. PubMed ID: 22012984
[TBL] [Abstract][Full Text] [Related]
19. [Novel MFN2, BSCL2 and LRSAM1 variants in a cohort of Chinese patients with Charcot-Marie-Tooth disease].
Sun B; He ZQ; Wang HF; Li YR; Yang F; Cui F; Chen ZH; Huang XS
Zhonghua Nei Ke Za Zhi; 2022 Aug; 61(8):901-907. PubMed ID: 35922214
[No Abstract] [Full Text] [Related]
20. DGAT2 Mutation in a Family with Autosomal-Dominant Early-Onset Axonal Charcot-Marie-Tooth Disease.
Hong YB; Kang J; Kim JH; Lee J; Kwak G; Hyun YS; Nam SH; Hong HD; Choi YR; Jung SC; Koo H; Lee JE; Choi BO; Chung KW
Hum Mutat; 2016 May; 37(5):473-80. PubMed ID: 26786738
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
