|
Non-Small Cell Lung Carcinoma
|
0.010 |
Biomarker
|
disease |
BEFREE |
The proliferation and migration were suppressed by overexpression of FBXL3, indicating the potential tumor suppressive role of FBXL3 in NSCLC.
|
30594330 |
2019 |
|
Neoplasms
|
0.010 |
Biomarker
|
group |
BEFREE |
The proliferation and migration were suppressed by overexpression of FBXL3, indicating the potential tumor suppressive role of FBXL3 in NSCLC.
|
30594330 |
2019 |
|
Abnormal behavior
|
0.010 |
Biomarker
|
phenotype |
BEFREE |
FBXL3 is part of the SCF (Skp1-Cullin-F box protein) ubiquitin ligase complex that binds and leads to phosphorylation-dependent degradation of the central clock protein cryptochromes (CRY1 and CRY2) by the proteasome and its absence causes circadian phenotypes in mice and behavioral problems.
|
30481285 |
2019 |
|
Developmental delay (disorder)
|
0.010 |
GeneticVariation
|
phenotype |
BEFREE |
The phenotypic similarity and the segregation analysis suggest that FBXL3 biallelic, LoF variants link this gene with syndromic autosomal recessive developmental delay/intellectual disability.
|
30481285 |
2019 |
|
Tumor Cell Invasion
|
0.010 |
Biomarker
|
phenotype |
BEFREE |
Functionally, MTT, colony formation assay and transwell assays were performed to determine the role of FBXL3 in regulating NSCLC cell proliferation, migration and invasion.
|
30594330 |
2019 |
|
Colorectal Carcinoma
|
0.010 |
Biomarker
|
disease |
BEFREE |
Together, our data indicate an oncogenic role of miR-181d in CRC by promoting glycolysis, and miR-181d/CRY2/FBXL3/c-myc feedback loop might be a therapeutic target for patients with CRC.
|
28749470 |
2017 |
|
Malignant neoplasm of colon and/or rectum
|
0.010 |
Biomarker
|
disease |
BEFREE |
miR-181d and c-myc-mediated inhibition of CRY2 and FBXL3 reprograms metabolism in colorectal cancer.
|
28749470 |
2017 |
|
Malignant Neoplasms
|
0.010 |
GeneticVariation
|
group |
BEFREE |
Here we describe an unexpected function for the circadian repressor CRY2 as a component of an FBXL3-containing E3 ligase that recruits T58-phosphorylated c-MYC for ubiquitylation. c-MYC is a critical regulator of cell proliferation; T58 is central in a phosphodegron long recognized as a hotspot for mutation in cancer.
|
27840026 |
2016 |
|
Primary malignant neoplasm
|
0.010 |
GeneticVariation
|
group |
BEFREE |
Here we describe an unexpected function for the circadian repressor CRY2 as a component of an FBXL3-containing E3 ligase that recruits T58-phosphorylated c-MYC for ubiquitylation. c-MYC is a critical regulator of cell proliferation; T58 is central in a phosphodegron long recognized as a hotspot for mutation in cancer.
|
27840026 |
2016 |
|
Circadian Rhythms
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
GWAS of 89,283 individuals identifies genetic variants associated with self-reporting of being a morning person.
|
26835600 |
2016 |
|
Neuronal Ceroid-Lipofuscinoses
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Proteolytic processing of the neuronal ceroid lipofuscinosis related lysosomal protein CLN5.
|
26342652 |
2015 |
|
CEROID LIPOFUSCINOSIS, NEURONAL, 5
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Proteolytic processing of the neuronal ceroid lipofuscinosis related lysosomal protein CLN5.
|
26342652 |
2015 |
|
CEROID LIPOFUSCINOSIS, NEURONAL, 5
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
Proteolytic processing of the neuronal ceroid lipofuscinosis related lysosomal protein CLN5.
|
26342652 |
2015 |
|
Neuronal Ceroid-Lipofuscinoses
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
The role of N-glycosylation in folding, trafficking, and functionality of lysosomal protein CLN5.
|
24058541 |
2013 |
|
Neuronal Ceroid-Lipofuscinoses
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Topology and membrane anchoring of the lysosomal storage disease-related protein CLN5.
|
24038957 |
2013 |
|
Neuronal Ceroid-Lipofuscinoses
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Molecular epidemiology of childhood neuronal ceroid-lipofuscinosis in Italy.
|
23374165 |
2013 |
|
CEROID LIPOFUSCINOSIS, NEURONAL, 5
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
Topology and membrane anchoring of the lysosomal storage disease-related protein CLN5.
|
24038957 |
2013 |
|
CEROID LIPOFUSCINOSIS, NEURONAL, 5
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
The role of N-glycosylation in folding, trafficking, and functionality of lysosomal protein CLN5.
|
24058541 |
2013 |
|
CEROID LIPOFUSCINOSIS, NEURONAL, 5
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
Molecular epidemiology of childhood neuronal ceroid-lipofuscinosis in Italy.
|
23374165 |
2013 |
|
CEROID LIPOFUSCINOSIS, NEURONAL, 5
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Topology and membrane anchoring of the lysosomal storage disease-related protein CLN5.
|
24038957 |
2013 |
|
Neuronal Ceroid-Lipofuscinoses
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses.
|
21990111 |
2012 |
|
Neuronal Ceroid-Lipofuscinoses
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
[Neuronal ceroid lipofuscinosis: diagnostic algorithm and clinical description of the Finnish (CLN5) and Turkish (CLN7) variants late infantile].
|
22532218 |
2012 |
|
CEROID LIPOFUSCINOSIS, NEURONAL, 5
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
An atypical case of neuronal ceroid lipofuscinosis with co-inheritance of a variably penetrant POLG1 mutation.
|
22727047 |
2012 |
|
CEROID LIPOFUSCINOSIS, NEURONAL, 5
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
[Neuronal ceroid lipofuscinosis: diagnostic algorithm and clinical description of the Finnish (CLN5) and Turkish (CLN7) variants late infantile].
|
22532218 |
2012 |
|
CEROID LIPOFUSCINOSIS, NEURONAL, 5
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses.
|
21990111 |
2012 |