| A novel mutation in the LRSAM1 gene in a family with early onset autosomal dominant Charcot-Marie-Tooth type 2P. | 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. | 03/5/2024 |
| [Novel MFN2, BSCL2 and LRSAM1 variants in a cohort of Chinese patients with Charcot-Marie-Tooth disease]. | [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. | 08/13/2022 |
| C698R mutation in Lrsam1 gene impairs nerve regeneration in a CMT2P mouse model. | C698R mutation in Lrsam1 gene impairs nerve regeneration in a CMT2P mouse model.
Moiseev D, Wazir Z, Liu D, Li J, Hu B., Free PMC Article | 07/30/2022 |
| LRSAM1 E3 ubiquitin ligase promotes proteasomal clearance of E6-AP protein. | LRSAM1 E3 ubiquitin ligase promotes proteasomal clearance of E6-AP protein.
Mishra R, Joshi V, Upadhyay A, Amanullah A, Dubey AR, Singh S, Dubey VK, Poluri KM, Jana NR, Mishra A. | 12/4/2021 |
| Location matters - Genotype-phenotype correlation in LRSAM1 mutations associated with rare Charcot-Marie-Tooth neuropathy CMT2P. | 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. | 11/22/2021 |
| Ubiquitin ligase LRSAM1 suppresses neurodegenerative diseases linked aberrant proteins induced cell death. | Ubiquitin ligase LRSAM1 suppresses neurodegenerative diseases linked aberrant proteins induced cell death.
Mishra R, Amanullah A, Upadhyay A, Dhiman R, Dubey AR, Singh S, Prasad A, Mishra A. | 10/31/2020 |
| Identification of novel pathogenic copy number variations in Charcot-Marie-Tooth disease. | Identification of novel pathogenic copy number variations in Charcot-Marie-Tooth disease.
Mortreux J, Bacquet J, Boyer A, Alazard E, Bellance R, Giguet-Valard AG, Cerino M, Krahn M, Audic F, Chabrol B, Laugel V, Desvignes JP, Béroud C, Nguyen K, Verschueren A, Lévy N, Attarian S, Delague V, Missirian C, Bonello-Palot N. | 10/10/2020 |
| Our results confirm the localization of variants in its catalytic C-terminal RING domain and broaden the phenotypic spectrum of LRSAM1-related neuropathies, including painful and predominantly sensory ataxic forms. | 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., Free PMC Article | 06/13/2020 |
| We report a novel LRSAM1 mutation c.2021-2024del (p.E674VfsX11) in 4 members of a Chinese autosomal dominant Charcot-Marie-Tooth disease type 2 family | A novel mutation of LRSAM1 in a Chinese family with Charcot-Marie-Tooth disease.
Zhao G, Song J, Yang M, Song X, Liu X. | 11/9/2019 |
| The article systematically represents the molecular functions, nature and detailed characterization of LRSAM1 E3 ubiquitin ligase, which are linked to molecular mechanisms of neurodegeneration. (Review) | 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., Free PMC Article | 05/25/2019 |
| Our study shows the potential function of mir-939 through regulating LRSAM1 in Hirschsprung's disease | MicroRNA-939 inhibits cell proliferation via targeting LRSAM1 in Hirschsprung's disease.
Chen G, Du C, Shen Z, Peng L, Xie H, Zang R, Li H, Xia Y, Tang W., Free PMC Article | 03/9/2019 |
| We identified a novel LRSAM1 missense mutation (c.2120C > T, p.Pro707Leu) mapping to the RING domain. The identified missense mutation, as well as of another recently reported pathogenic missense mutation (c.2081G > A, p.Cys694Tyr), revealed that in vitro ubiquitylation activity was largely abrogated. | 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. | 10/21/2017 |
| findings suggest that the mutant LRSAM1 may aberrantly affect the formation of transcription machinery. | A novel missense mutation of CMT2P alters transcription machinery.
Hu B, Arpag S, Zuchner S, Li J., Free PMC Article | 06/24/2017 |
| findings demonstrate that the isolated genetic entity Charcot-Marie-Tooth type 2G is caused by a missense mutation in LRSAM1. | 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. | 06/24/2017 |
| LRSAM1 exhibited self-association in vitro and in vivo. The study found the self-association of LRSAM1 promotes intermolecular ubiquitination and proved a potential N-terminal ubiquitination. | The self-association and activity regulation of LRSAM1 E3 ligase.
Bian W, Guo Y, Zhang Y, Li H. | 06/10/2017 |
| Plant homeodomain finger protein 23 negatively regulates cell autophagy by promoting ubiquitination and degradation of E3 ligase LRSAM1 | PHF23 (plant homeodomain finger protein 23) negatively regulates cell autophagy by promoting ubiquitination and degradation of E3 ligase LRSAM1.
Wang Z, Hu J, Li G, Qu L, He Q, Lou Y, Song Q, Ma D, Chen Y., Free PMC Article | 12/12/2015 |
| disruption of the C-terminal RING domain confers dominant negative properties to LRSAM1 | 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., Free PMC Article | 01/17/2015 |
| Our data further confirms that LRSAM1 mutations are associated with CMT2 of AD inheritance. | 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., Free PMC Article | 06/22/2013 |
| Authors identify LRSAM1 as the E3 ligase responsible for anti-Salmonella autophagy-associated ubiquitination. | The LRR and RING domain protein LRSAM1 is an E3 ligase crucial for ubiquitin-dependent autophagy of intracellular Salmonella Typhimurium.
Huett A, Heath RJ, Begun J, Sassi SO, Baxt LA, Vyas JM, Goldberg MB, Xavier RJ., Free PMC Article | 05/25/2013 |
| homozygous mutation in LRSAM1 was proposed as a strong candidate for the disease in a family with recessive axonal polyneuropathy | 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., Free PMC Article | 04/28/2012 |
| LRSAM1 as a component of the antibacterial autophagic response. | Human leucine-rich repeat proteins: a genome-wide bioinformatic categorization and functional analysis in innate immunity.
Ng AC, Eisenberg JM, Heath RJ, Huett A, Robinson CM, Nau GJ, Xavier RJ., Free PMC Article | 05/21/2011 |
| LRSAM1 is a strong candidate for the causal gene for the Charcot-Marie-Tooth disease. | 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., Free PMC Article | 01/1/2011 |
| Tal polyubiquitinates lysine residues in the C-terminus of uncomplexed Tsg101, resulting in proteasomal degradation. | Regulation of Tsg101 expression by the steadiness box: a role of Tsg101-associated ligase.
McDonald B, Martin-Serrano J., Free PMC Article | 01/21/2010 |
| Results suggest that RIFLE represents a novel signaling protein that mediates components of the Wnt/wingless signaling pathway and cell adhesion in PC12 cells [RIFLE protein]. | RIFLE: a novel ring zinc finger-leucine-rich repeat containing protein, regulates select cell adhesion molecules in PC12 cells.
Li B, Su Y, Ryder J, Yan L, Na S, Ni B. | 01/21/2010 |
| Tal regulates a Tsg101-associated complex responsible for the sorting of cargo into cytoplasm-containing vesicles that bud at the multivesicular body and at the plasma membrane | Tal, a Tsg101-specific E3 ubiquitin ligase, regulates receptor endocytosis and retrovirus budding.
Amit I, Yakir L, Katz M, Zwang Y, Marmor MD, Citri A, Shtiegman K, Alroy I, Tuvia S, Reiss Y, Roubini E, Cohen M, Wides R, Bacharach E, Schubert U, Yarden Y., Free PMC Article | 01/21/2010 |