|
Malignant neoplasm of breast
|
0.300 |
GeneticVariation
|
disease |
UNIPROT |
|
|
|
|
Amyotrophic Lateral Sclerosis
|
0.020 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the p150 subunit of the axonal transport protein dynactin (DCTN1) have been reported in patients with amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD).
|
17824900 |
2007 |
|
Amyotrophic Lateral Sclerosis
|
0.020 |
GeneticVariation
|
disease |
BEFREE |
A heterozygous R1101K mutation of the p150 subunit of dynactin (DCTN1) is reported in a family with amyotrophic lateral sclerosis (ALS) and co-occurrence of frontotemporal dementia (FTD).
|
16240349 |
2005 |
|
Frontotemporal dementia
|
0.020 |
GeneticVariation
|
disease |
BEFREE |
A heterozygous R1101K mutation of the p150 subunit of dynactin (DCTN1) is reported in a family with amyotrophic lateral sclerosis (ALS) and co-occurrence of frontotemporal dementia (FTD).
|
16240349 |
2005 |
|
Frontotemporal dementia
|
0.020 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the p150 subunit of the axonal transport protein dynactin (DCTN1) have been reported in patients with amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD).
|
17824900 |
2007 |
|
Epilepsy
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Finally, we report that mutations in VPS15 are associated with cortical atrophy and epilepsy in humans.
|
29311744 |
2018 |
|
Fatigue
|
0.010 |
GeneticVariation
|
phenotype |
BEFREE |
Mouse patellar tendons (PT) and flexor digitorum longus (FDL) tendons were fatigue loaded while an integrated plane polariscope simultaneously assessed crimp properties at P150 and P570 days of age to model mature and aged tendon phenotypes (N = 10-11/group).
|
31286548 |
2020 |
|
Cerebral atrophy
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Finally, we report that mutations in VPS15 are associated with cortical atrophy and epilepsy in humans.
|
29311744 |
2018 |
|
Vacuolar myopathy
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Distinct from the autophagy deficient Atg7(-/-) mutants, pathognomonic morphological hallmarks of autophagic vacuolar myopathy (AVM) are observed in Vps15(-/-) mutants, including elevated creatine kinase plasma levels, accumulation of autophagosomes, glycogen and sarcolemmal features within the fibres.
|
23630012 |
2013 |
|
Ciliopathies
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Here, we identify a missense mutation in PIK3R4 (phosphoinositide 3-kinase regulatory subunit 4, named VPS15) in a family with a ciliopathy phenotype.
|
27882921 |
2016 |
|
Cerebral cortical atrophy
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Finally, we report that mutations in VPS15 are associated with cortical atrophy and epilepsy in humans.
|
29311744 |
2018 |
|
Neoplasm Metastasis
|
0.020 |
Biomarker
|
phenotype |
BEFREE |
Several interactions of H19-hsa-mir-222-chromobox 2 (CBX2), H19-hsa-mir-330-phosphoinositide-3-kinase regulatory subunit 4 (PIK3R4), KCNQ1 opposite strand/antisense transcript 1 (KCNQ1OT1)/CTB-89H12.4-hsa-mir-374a-vascular endothelial growth factor A (VEGFA), MALAT1/X inactive specific transcript (XIST)/XIST antisense RNA (TSIX)-hsa-mir-340-tumor necrosis factor receptor superfamily member 10A (NFRSF10A) were identified to play key roles in the metastasis of ESCC.
|
30891809 |
2019 |
|
Rubella
|
0.020 |
Biomarker
|
disease |
BEFREE |
We measured antibodies to all rubella virus structural proteins (i.e., the glycoproteins E1 and E2 and the capsid C protein) and to the non-structural protein P150.
|
29145521 |
2017 |
|
Rubella
|
0.020 |
Biomarker
|
disease |
BEFREE |
The P150 and P90 replicase proteins of rubella virus (RUBV), a plus-strand RNA Togavirus, produce a unique cytoplasmic fiber network resembling microtubules.
|
20696450 |
2010 |
|
Malignant Neoplasms
|
0.010 |
Biomarker
|
group |
BEFREE |
Deregulation of chromatin assembly factor 1, p150 subunit A (CHAF1A) has recently been reported to be involved in the development of some cancer types.
|
24845563 |
2014 |
|
Chediak-Higashi Syndrome
|
0.010 |
Biomarker
|
disease |
BEFREE |
Analysis of the CHS polypeptide demonstrates that its modular architecture is similar to the yeast vacuolar sorting protein, VPS15.
|
8896560 |
1996 |
|
Diabetes
|
0.010 |
Biomarker
|
disease |
BEFREE |
On depletion of Vps15, the metabolic syndrome in genetic and diet-induced models of insulin resistance and diabetes is alleviated.
|
26387534 |
2015 |
|
Diabetes Mellitus
|
0.010 |
Biomarker
|
group |
BEFREE |
On depletion of Vps15, the metabolic syndrome in genetic and diet-induced models of insulin resistance and diabetes is alleviated.
|
26387534 |
2015 |
|
Glycogen storage disease type II
|
0.010 |
Biomarker
|
disease |
BEFREE |
Both DD and GSDII show accumulation and altered localization of VPS15 in autophagy-incompetent fibers.
|
28102838 |
2017 |
|
Multiple Sclerosis
|
0.010 |
Biomarker
|
disease |
BEFREE |
The p150 subunit of dynactin (DCTN1) gene in multiple sclerosis.
|
17824900 |
2007 |
|
Myopathy
|
0.010 |
Biomarker
|
group |
BEFREE |
Mice lacking Vps15 in skeletal muscles, develop a severe myopathy.
|
23630012 |
2013 |
|
Lysosomal Storage Diseases
|
0.010 |
Biomarker
|
group |
BEFREE |
Thus, the activity of the Vps34/Vps15 complex is critical in disease conditions such as AVMs, and possibly a variety of other lysosomal storage diseases.
|
23630012 |
2013 |
|
Parkinsonian Disorders
|
0.010 |
Biomarker
|
group |
BEFREE |
The dynactin p150 subunit: cell biology studies of sequence changes found in ALS/MND and Parkinsonian syndromes.
|
23143281 |
2013 |
|
Cervix carcinoma
|
0.010 |
Biomarker
|
disease |
BEFREE |
The results suggest that p150 may be a new early tumor marker for gastric carcinoma similar to that for esophagus and cervix carcinoma.
|
15382063 |
2004 |
|
Generalized glycogen storage disease of infants
|
0.010 |
Biomarker
|
disease |
BEFREE |
Both DD and GSDII show accumulation and altered localization of VPS15 in autophagy-incompetent fibers.
|
28102838 |
2017 |