anti-Leucine Rich Repeat and Sterile alpha Motif Containing 1 (LRSAM1) Anticorps

Human Leucine Rich Repeat and Sterile alpha Motif Containing 1 (LRSAM1) interaction partners

1. 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

2. 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)

3. Our study shows the potential function of mir-939 through regulating LRSAM1 in Hirschsprung's disease

4. 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.

5. findings suggest that the mutant LRSAM1 may aberrantly affect the formation of transcription machinery.

6. findings demonstrate that the isolated genetic entity Charcot-Marie-Tooth type 2G is caused by a missense mutation in LRSAM1.

7. 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.

8. Plant homeodomain finger protein 23 negatively regulates cell autophagy by promoting ubiquitination and degradation of E3 ligase LRSAM1

9. disruption of the C-terminal RING domain confers dominant negative properties to LRSAM1

10. Our data further confirms that LRSAM1 mutations are associated with CMT2 of AD inheritance.

11. Authors identify LRSAM1 as the E3 ligase responsible for anti-Salmonella autophagy-associated ubiquitination.

12. homozygous mutation in LRSAM1 was proposed as a strong candidate for the disease in a family with recessive axonal polyneuropathy

13. LRSAM1 as a component of the antibacterial autophagic response.

14. LRSAM1 is a strong candidate for the causal gene for the Charcot-Marie-Tooth disease.

15. 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].

16. 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

17. Tal polyubiquitinates lysine residues in the C-terminus of uncomplexed Tsg101, resulting in proteasomal degradation.

Mouse (Murine) Leucine Rich Repeat and Sterile alpha Motif Containing 1 (LRSAM1) interaction partners

1. downregulation of miR-431-5p promoted proliferation of enteric neural crest cells via targeting LRSAM1, which provides an innovative and candidate target for treatment of Hirschsprung's disease

2. TLR4/NF-kappaB-responsive microRNAs and their potential target genes: a mouse model of skeletal muscle ischemia-reperfusion injury.

3. Lrsam1 mutant mice are more sensitive to challenge with acrylamide, a neurotoxic agent that causes axon degeneration, indicating that the axons in the mutant mice are indeed compromised.