Keyphrases
Gaucher Disease
100%
Glucocerebrosidase
60%
Glucocerebrosidase Gene
19%
Gaucher
19%
Human Glucocerebrosidase
18%
Ehd1
17%
Prosaposin
17%
Complementary DNA (cDNA)
17%
GBA1
14%
Parkinson's Disease
13%
Simian Virus 40 (SV40)
12%
Glucosylceramide
12%
L444P
12%
Drosophilidae
11%
SNAP29
11%
Endocytosis
11%
Unfolded Protein Response
11%
Genotype
11%
Lysosomal Enzymes
10%
Eps15
10%
Glucocerebrosidase Activity
10%
ER-associated Degradation
10%
Enzyme Replacement Therapy
9%
Disease-causing mutations
8%
Lysosome
8%
Plasma Membrane
8%
Orthologs
8%
D409H
8%
Endoplasmic Reticulum
8%
Neuronopathy
7%
Ashkenazi Jews
7%
N370S
6%
Amino Acids
6%
Cerebral Dysgenesis
6%
Ichthyosis
6%
Neuropathy
6%
Chloramphenicol Acetyltransferase
6%
EH Domain
6%
Skin Fibroblasts
6%
EHD2
6%
Drosophila Melanogaster
5%
Jewish
5%
Pharmacological Chaperone
5%
Transversion
5%
Clinical Features
5%
Associated Proteins
5%
Coding Sequence
5%
EHD3
5%
Human Cells
5%
Fibroblasts
5%
Biochemistry, Genetics and Molecular Biology
Glucosylceramidase
69%
Glucocerebrosidase
66%
Gaucher's Disease
66%
Enzyme
21%
Allele
19%
EHD1
18%
Diptera
16%
Mouse
15%
RNA
13%
Messenger RNA
13%
Fibroblast
12%
Endocytosis
12%
Promoter Region
11%
Prosaposin
11%
Simian Virus 40
10%
Unfolded Protein Response
9%
Exon
9%
Transcription
9%
Cell Membrane
9%
Amino Acids
8%
Orthology
7%
Lysosome
7%
Chloramphenicol Acetyltransferase
6%
Maturation
6%
Transversion
6%
Genotyping
5%
Prevalence
5%
Pharmacological Chaperone
5%
Sphingolipid
5%
Serine
5%
Neuroscience
Glucosylceramidase
64%
Parkinson's Disease
11%
Endoplasmic reticulum
11%
SV40
10%
Amino Acid
10%
Complementary DNA
9%
Lysosome Enzyme
9%
Prosaposin
9%
Glucosylceramide
8%
Lysosome
7%
Enzyme Replacement Therapy
7%
In Vitro
7%
Fibroblast
7%
Endocytosis
7%
Cell Membrane
6%
Sphingolipid Activator Protein
5%
Chaperone
5%