Keyphrases
Gaucher Disease
100%
Glucocerebrosidase
58%
Glucocerebrosidase Gene
18%
Gaucher
18%
Human Glucocerebrosidase
17%
GBA1
17%
Ehd1
16%
Prosaposin
16%
Complementary DNA (cDNA)
16%
Drosophilidae
13%
Parkinson's Disease
12%
Simian Virus 40 (SV40)
12%
Glucosylceramide
12%
L444P
11%
Unfolded Protein Response
11%
SNAP29
11%
Endocytosis
11%
Genotype
10%
Enzyme Replacement Therapy
10%
Glucocerebrosidase Activity
9%
Lysosomal Enzymes
9%
Eps15
9%
Lysosome
9%
ER-associated Degradation
9%
Orthologs
9%
Disease-causing mutations
8%
Plasma Membrane
8%
D409H
7%
Endoplasmic Reticulum
7%
Neuronopathy
7%
Ashkenazi Jews
7%
Lysosomal Storage Disease
7%
N370S
6%
Amino Acids
6%
Cerebral Dysgenesis
6%
Ichthyosis
6%
Neuropathy
6%
Chloramphenicol Acetyltransferase
6%
Drosophila Melanogaster
5%
EH Domain
5%
Skin Fibroblasts
5%
EHD2
5%
Jewish
5%
Pharmacological Chaperone
5%
Transversion
5%
Clinical Features
5%
Ambroxol
5%
Glucosylsphingosine
5%
Associated Proteins
5%
Coding Sequence
5%
Biochemistry, Genetics and Molecular Biology
Glucosylceramidase
66%
Gaucher's Disease
66%
Glucocerebrosidase
64%
Enzyme
20%
Allele
18%
EHD1
17%
RNA
14%
Endocytosis
13%
Messenger RNA
12%
Fibroblast
11%
Promoter Region
11%
Prosaposin
11%
Unfolded Protein Response
10%
Simian Virus 40
9%
Exon
9%
Cell Membrane
9%
Endoplasmic Reticulum Associated Degradation
9%
Orthology
9%
Transcription
8%
Amino Acids
7%
Lysosome
6%
Chloramphenicol Acetyltransferase
6%
Maturation
6%
Genomics
5%
Transversion
5%
Genotyping
5%
Prevalence
5%
SNARE (Protein)
5%
Pharmacological Chaperone
5%
Drosophila Melanogaster
5%
Sphingolipid
5%
Neuroscience
Glucosylceramidase
61%
Parkinson's Disease
11%
Endoplasmic Reticulum
10%
SV40
9%
Amino Acid
9%
Messenger RNA
9%
Complementary DNA
9%
Lysosome Enzyme
8%
Prosaposin
8%
Glucosylceramide
7%
Lysosome
7%
Enzyme Replacement Therapy
7%
In Vitro
7%
Fibroblast
6%
Endocytosis
6%
Cell Membrane
5%
Sphingolipid Activator Protein
5%
Chaperone
5%