Table 1.
Distribution of research papers per disease and per protein target. The table summarizes how many articles use the term “pharmacological chaperone” and the corresponding disease context (we chose arbitrarily what we considered the most representative name of the disease). The UniProt entry of the affected protein, the name of the gene, the protein type, and the protein localization are also shown.
| Disease | Gene | Uniprot Code | Protein Type | Subcellular Location | N. Of Articles |
|---|---|---|---|---|---|
| Gaucher | GBA | P04062 | enzyme | lysosome | 64 |
| Fabry | GLA | P06280 | enzyme | lysosome | 42 |
| GM-1, Morqio B | GLB1 | P16278 | enzyme | lysosome | 16 |
| Pompe | GAA | P10253 | enzyme | lysosome | 14 |
| Cystic fibrosis | CFTR | P13569 | transporter | plasma membrane | 14 |
| Retinitis pigmentosa | RHO | P08100 | receptor | plasma membrane | 12 |
| Phenylketonuria | PAH | P00439 | enzyme | cytosol | 9 |
| Krabbe disease | GALC | P54803 | enzyme | lysosome | 9 |
| Nephrogenic diabetes insipidus | V2R | P30518 | receptor | plasma membrane | 8 |
| Long QT Syndrome | KCNH2 | Q12809 | transporter | plasma membrane | 7 |
| Parkinson | PARK7 | Q99497 | enzyme | plasma membrane, nucleus, mitochondrion | 5 |
| Niemann-Pick | NPC1 | O15118 | receptor | lysosome | 5 |
| Hyperoxaluria | AGXT | Q86XE5 | enzyme | mitochondrion | 5 |
| Obesity | MC4R | P32245 | receptor | plasma membrane | 4 |
| GM-2, Sanfilippo syndrome | GNRHR | P07686 | enzyme | lysosome | 4 |
| GM-2, Tay-Sachs syndrome | HEXB | P06865 | enzyme | lysosome | 4 |
| Galactosemia | HEXA | P07902 | enzyme | cytosol | 4 |
| Hypoparathyroidism | PTH | P01270 | hormone | extracellular or secreted | 3 |
| Parkinson | GALT | P04062 | enzyme | lysosome | 3 |
| Hypogonadotropic hypogonadism | ATP7B | P30968 | receptor | plasma membrane | 2 |
| Wilson | PMM2 | P35670 | transporter | Golgi apparatus | 2 |
| PMM2-CDG | SLC26A4 | O15305 | enzyme | cytosol | 2 |
| Pendred | MMAB | O43511 | transporter | plasma membrane | 2 |
| Methylmalonic aciduria | ABCB4 | Q96EY8 | enzyme | mitochondrion | 2 |
| Intrahepatic cholestasis | DRD4 | P21439 | transporter | plasma membrane | 2 |
| Hyperactivity disorder | ABCC8 | P21917 | receptor | plasma membrane | 2 |
| Diabetes | GPR56 | Q09428 | receptor | plasma membrane | 2 |
| Polymicrogyria | PGK1 | Q9Y653 | receptor | plasma membrane, extracellular or secreted | 1 |
| Phosphoglycerate kinase 1 deficiency | SNCA | P00558 | enzyme | cytosol | 1 |
| Parkinson | SUMF1 | P37840 | regulator | presynaptic vesicle | 1 |
| Multiple sulfatase deficiency | NPM | Q8NBK3 | enzyme | E.R. | 1 |
| Leukemia | PKR2 | P06748 | regulator | nucleus, cytoskeleton | 1 |
| Intrahepatic cholestasis | ABCB11 | O95342 | transporter | plasma membrane | 1 |
| Nocturnal frontal lobe epilepsy | CHRNB2/CHRNA4 | P17787/P43681 | transporter | plasma membrane | 1 |
| Hypomagnesemia | CLDN16 | Q9Y5I7 | transporter | plasma membrane | 1 |
| Creutzfeld-Jacob, Kuru | PRNP | P04156 | unclear/prion | plasma membrane | 1 |
| Homocystinuria | CBS | P35520 | enzyme | nucleus | 1 |
| Fibrodysplasia ossificans | ACVR1 | Q04771 | enzyme | plasma membrane | 1 |
| Epilepsy, Migraine | SCN1A | P35498 | transporter | plasma membrane | 1 |
| Dystonia | SLC2A1 | P11166 | transporter | plasma membrane | 1 |
| Diarrhea (cholera toxin) | NHE3 | P48764 | transporter | plasma membrane | 1 |
| Diabetes | KCNJ11 | Q14654 | transporter | plasma membrane | 1 |
| Intrahepatic cholestasis | ATP8B1 | O43520 | transporter | plasma membrane, Golgi apparatus, E.R. | 1 |
| Breast cancer | NBS | O60934 | regulator | nucleus | 1 |
| Amyotrophic lateral sclerosis | SOD1 | P00441 | enzyme | nucleus, mitochondrion | 1 |
| Amyloidosis | VPS29/VPS26 | Q9UBQ0/O75436 | transporter | endosome | 1 |
| Allan-Herndon-Dudley | SLC16A2 | P36021 | transporter | plasma membrane | 1 |
| Alkaptonuria | HGD | Q93099 | enzyme | cytosol | 1 |
| Aspartylglucosaminuria | AGA | P20933 | enzyme | lysosome | 1 |
| Ceroid lipofuscinosis | PPT1 | P50897 | enzyme | lysosome | 1 |
| Schindler disease | NAGA | P17050 | enzyme | lysosome | 1 |
| Diabetes mellitus | IAPP | P10997 | hormone | extracellular or secreted | 1 |
| GM-1 | IDS | P22304 | enzyme | lysosome | 1 |
| Morquio A, Hunter disease | GALNS | P34059 | enzyme | lysosome | 1 |